Incidental Mutation 'R1869:Pcdhga1'
ID 210600
Institutional Source Beutler Lab
Gene Symbol Pcdhga1
Ensembl Gene ENSMUSG00000103144
Gene Name protocadherin gamma subfamily A, 1
Synonyms
MMRRC Submission 039891-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1869 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37794846-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37973143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 907 (N907K)
Ref Sequence ENSEMBL: ENSMUSP00000111325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003599] [ENSMUST00000025337] [ENSMUST00000044851] [ENSMUST00000055935] [ENSMUST00000061279] [ENSMUST00000066140] [ENSMUST00000066149] [ENSMUST00000076807] [ENSMUST00000192511] [ENSMUST00000115661] [ENSMUST00000192535] [ENSMUST00000091935] [ENSMUST00000073447] [ENSMUST00000115629] [ENSMUST00000115631] [ENSMUST00000115634] [ENSMUST00000192103] [ENSMUST00000080033] [ENSMUST00000195112] [ENSMUST00000195823] [ENSMUST00000194190] [ENSMUST00000193404] [ENSMUST00000192931] [ENSMUST00000193869] [ENSMUST00000193414] [ENSMUST00000195363] [ENSMUST00000194928] [ENSMUST00000194418] [ENSMUST00000195239] [ENSMUST00000208907] [ENSMUST00000195764] [ENSMUST00000193890] [ENSMUST00000193941]
AlphaFold Q91XZ0
PDB Structure Structure of EC1 domain of CNR [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000003599
AA Change: N918K

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088
AA Change: N918K

DomainStartEndE-ValueType
CA 47 131 8.06e-6 SMART
CA 155 240 2.29e-19 SMART
CA 264 345 3.36e-26 SMART
CA 369 450 4.94e-24 SMART
CA 474 560 7.6e-25 SMART
CA 591 672 9.18e-10 SMART
Pfam:Cadherin_C_2 687 768 3.5e-20 PFAM
Pfam:Cadherin_tail 807 930 8.1e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025337
SMART Domains Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
Drf_GBD 84 268 1.07e-57 SMART
Drf_FH3 274 466 2.06e-68 SMART
coiled coil region 471 571 N/A INTRINSIC
Pfam:Drf_FH1 609 756 6.1e-43 PFAM
FH2 761 1206 2.46e-182 SMART
Predicted Effect unknown
Transcript: ENSMUST00000044851
AA Change: N920K
SMART Domains Protein: ENSMUSP00000036359
Gene: ENSMUSG00000102428
AA Change: N920K

DomainStartEndE-ValueType
low complexity region 12 23 N/A INTRINSIC
CA 45 131 3.28e-1 SMART
CA 155 240 1.8e-17 SMART
CA 264 345 9.22e-24 SMART
CA 369 450 1.28e-22 SMART
CA 474 560 1.09e-25 SMART
CA 591 669 9.24e-15 SMART
Pfam:Cadherin_C_2 688 772 3.6e-25 PFAM
Pfam:Cadherin_tail 809 932 8.1e-38 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000055935
AA Change: N932K
SMART Domains Protein: ENSMUSP00000060949
Gene: ENSMUSG00000102543
AA Change: N932K

DomainStartEndE-ValueType
CA 54 131 3.02e-2 SMART
CA 155 240 6.84e-18 SMART
CA 264 348 7.91e-23 SMART
CA 372 452 4.4e-21 SMART
CA 476 562 3.31e-25 SMART
CA 592 674 5.69e-15 SMART
Pfam:Cadherin_C_2 689 791 1.1e-18 PFAM
low complexity region 808 819 N/A INTRINSIC
Pfam:Cadherin_tail 821 944 8.3e-38 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000061279
AA Change: N921K
SMART Domains Protein: ENSMUSP00000058362
Gene: ENSMUSG00000102742
AA Change: N921K

DomainStartEndE-ValueType
CA 45 131 3.23e-2 SMART
CA 155 240 2.22e-17 SMART
CA 264 345 3.36e-26 SMART
CA 369 450 7.09e-25 SMART
CA 474 560 3.55e-25 SMART
CA 591 669 2.53e-12 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 914 933 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000066140
AA Change: N929K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000068846
Gene: ENSMUSG00000023036
AA Change: N929K

DomainStartEndE-ValueType
CA 52 134 4.39e-1 SMART
CA 158 243 1.25e-20 SMART
CA 267 351 5.09e-26 SMART
CA 375 456 1.26e-21 SMART
CA 480 566 6.56e-29 SMART
CA 596 674 6.95e-10 SMART
transmembrane domain 693 715 N/A INTRINSIC
low complexity region 922 941 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000066149
AA Change: N920K
SMART Domains Protein: ENSMUSP00000067728
Gene: ENSMUSG00000103897
AA Change: N920K

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
CA 31 131 4.84e-2 SMART
CA 155 240 1.48e-22 SMART
CA 264 345 1.14e-23 SMART
CA 369 450 9.44e-21 SMART
CA 474 560 1.03e-26 SMART
CA 591 669 3.64e-13 SMART
Pfam:Cadherin_C_2 688 772 3e-25 PFAM
Pfam:Cadherin_tail 809 932 8.1e-38 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000076807
AA Change: N922K
SMART Domains Protein: ENSMUSP00000076085
Gene: ENSMUSG00000102918
AA Change: N922K

DomainStartEndE-ValueType
low complexity region 20 26 N/A INTRINSIC
CA 51 133 8.56e-3 SMART
CA 157 242 1.78e-16 SMART
CA 266 350 2.18e-25 SMART
CA 374 455 7.09e-25 SMART
CA 479 565 1.87e-24 SMART
CA 593 674 1.79e-12 SMART
Pfam:Cadherin_C_2 689 774 3.9e-14 PFAM
Pfam:Cadherin_tail 811 934 8.2e-38 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000192511
AA Change: N923K
SMART Domains Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472
AA Change: N923K

DomainStartEndE-ValueType
CA 47 133 1.57e-2 SMART
CA 157 242 3.24e-19 SMART
CA 266 347 3.21e-23 SMART
CA 371 452 9.08e-23 SMART
CA 476 562 1.32e-24 SMART
CA 593 671 3.5e-15 SMART
transmembrane domain 694 716 N/A INTRINSIC
low complexity region 916 935 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115661
AA Change: N907K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458
AA Change: N907K

DomainStartEndE-ValueType
CA 20 131 5.3e-2 SMART
CA 155 240 1.51e-19 SMART
CA 264 348 7.6e-25 SMART
CA 372 453 1.42e-24 SMART
CA 477 563 1.42e-24 SMART
CA 594 674 4.12e-12 SMART
low complexity region 706 721 N/A INTRINSIC
Pfam:Cadherin_tail 796 930 3.9e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192861
Predicted Effect probably benign
Transcript: ENSMUST00000192535
AA Change: N914K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749
AA Change: N914K

DomainStartEndE-ValueType
low complexity region 17 25 N/A INTRINSIC
CA 56 131 8e-3 SMART
CA 155 240 2.49e-20 SMART
CA 264 341 4.97e-29 SMART
CA 365 446 1.09e-25 SMART
CA 470 556 1.75e-24 SMART
CA 587 668 9.18e-10 SMART
transmembrane domain 687 709 N/A INTRINSIC
low complexity region 907 926 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192875
Predicted Effect unknown
Transcript: ENSMUST00000091935
AA Change: N920K
SMART Domains Protein: ENSMUSP00000089555
Gene: ENSMUSG00000102440
AA Change: N920K

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
CA 32 132 8.37e-3 SMART
CA 156 241 5.51e-22 SMART
CA 265 346 8.27e-26 SMART
CA 370 451 1.4e-23 SMART
CA 475 561 2.97e-27 SMART
CA 592 670 1.18e-12 SMART
Pfam:Cadherin_C_2 688 772 3.9e-24 PFAM
Pfam:Cadherin_tail 809 932 8.1e-38 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000073447
AA Change: N916K
SMART Domains Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346
AA Change: N916K

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CA 42 128 2.15e-2 SMART
CA 152 237 4.8e-13 SMART
CA 261 342 9.36e-25 SMART
CA 366 447 6.62e-25 SMART
CA 471 557 6.72e-26 SMART
CA 588 666 2.15e-15 SMART
Pfam:Cadherin_C_2 685 768 4.8e-24 PFAM
Pfam:Cadherin_tail 805 928 8.1e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192109
Predicted Effect probably benign
Transcript: ENSMUST00000115629
SMART Domains Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456

DomainStartEndE-ValueType
Drf_GBD 40 224 1.07e-57 SMART
Drf_FH3 230 422 2.06e-68 SMART
coiled coil region 427 527 N/A INTRINSIC
Pfam:Drf_FH1 554 712 7.6e-52 PFAM
FH2 717 1162 3.73e-182 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115631
SMART Domains Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456

DomainStartEndE-ValueType
Drf_GBD 40 224 1.07e-57 SMART
Drf_FH3 230 422 2.06e-68 SMART
coiled coil region 427 527 N/A INTRINSIC
Pfam:Drf_FH1 554 712 1.1e-51 PFAM
FH2 717 1162 2.46e-182 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115634
SMART Domains Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
Drf_GBD 75 259 1.07e-57 SMART
Drf_FH3 265 457 2.06e-68 SMART
coiled coil region 462 562 N/A INTRINSIC
Pfam:Drf_FH1 589 747 9.4e-52 PFAM
FH2 752 1197 2.46e-182 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192103
SMART Domains Protein: ENSMUSP00000141611
Gene: ENSMUSG00000102918

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Cadherin_2 31 78 2.3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080033
SMART Domains Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
Drf_GBD 75 259 1.07e-57 SMART
Drf_FH3 265 457 2.06e-68 SMART
coiled coil region 462 562 N/A INTRINSIC
Pfam:Drf_FH1 589 747 7.9e-52 PFAM
FH2 752 1197 3.73e-182 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194980
Predicted Effect unknown
Transcript: ENSMUST00000195112
AA Change: N916K
SMART Domains Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748
AA Change: N916K

DomainStartEndE-ValueType
CA 24 130 8.18e-3 SMART
CA 154 239 1.39e-18 SMART
CA 263 344 7.91e-23 SMART
CA 368 449 2.27e-23 SMART
CA 473 559 1.24e-24 SMART
CA 590 671 1.3e-9 SMART
transmembrane domain 690 712 N/A INTRINSIC
low complexity region 909 928 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195823
AA Change: N920K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793
AA Change: N920K

DomainStartEndE-ValueType
low complexity region 13 24 N/A INTRINSIC
CA 45 131 2.41e-2 SMART
CA 155 240 5.77e-16 SMART
CA 264 345 1.1e-21 SMART
CA 369 450 2.75e-22 SMART
low complexity region 453 462 N/A INTRINSIC
CA 474 560 9.22e-24 SMART
CA 591 669 2.4e-13 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 913 932 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194190
AA Change: N919K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144
AA Change: N919K

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 31 131 3.16e-2 SMART
CA 155 240 5.39e-16 SMART
CA 264 345 6.72e-26 SMART
CA 369 450 1.32e-24 SMART
CA 474 560 4.17e-22 SMART
CA 591 669 4.48e-13 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 912 931 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000193404
AA Change: N918K
SMART Domains Protein: ENSMUSP00000141359
Gene: ENSMUSG00000102222
AA Change: N918K

DomainStartEndE-ValueType
CA 43 129 2.76e-2 SMART
CA 153 238 1.16e-20 SMART
CA 262 343 1.25e-25 SMART
CA 367 448 4.75e-26 SMART
CA 472 558 3.69e-23 SMART
CA 589 667 3.84e-12 SMART
transmembrane domain 690 712 N/A INTRINSIC
low complexity region 911 930 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192984
Predicted Effect unknown
Transcript: ENSMUST00000192931
AA Change: N906K
SMART Domains Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037
AA Change: N906K

DomainStartEndE-ValueType
CA 36 119 8e-3 SMART
CA 143 228 1.34e-20 SMART
CA 252 333 1.52e-24 SMART
CA 357 438 9.22e-24 SMART
CA 462 548 1.24e-24 SMART
CA 579 660 1.3e-9 SMART
transmembrane domain 679 701 N/A INTRINSIC
low complexity region 899 918 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000193869
AA Change: N919K
SMART Domains Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332
AA Change: N919K

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 45 131 1.64e-2 SMART
CA 155 240 6.42e-23 SMART
CA 264 345 1.76e-20 SMART
CA 369 450 2.27e-23 SMART
CA 474 560 1.5e-23 SMART
CA 591 669 1.17e-16 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 912 931 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000193414
AA Change: N920K
SMART Domains Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567
AA Change: N920K

DomainStartEndE-ValueType
CA 45 131 2.45e-1 SMART
CA 155 240 1.05e-18 SMART
CA 264 345 6.52e-24 SMART
CA 369 450 5.99e-23 SMART
CA 474 560 6.99e-24 SMART
CA 591 669 5.31e-15 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 913 932 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000195363
AA Change: N900K
SMART Domains Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585
AA Change: N900K

DomainStartEndE-ValueType
low complexity region 17 25 N/A INTRINSIC
CA 56 131 1.47e-2 SMART
CA 155 240 1.23e-19 SMART
CA 264 343 5.54e-27 SMART
CA 367 448 5.09e-26 SMART
CA 472 558 1.98e-23 SMART
CA 589 670 1.3e-9 SMART
transmembrane domain 689 711 N/A INTRINSIC
low complexity region 893 912 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000194928
AA Change: N917K
SMART Domains Protein: ENSMUSP00000141997
Gene: ENSMUSG00000104063
AA Change: N917K

DomainStartEndE-ValueType
CA 47 131 2.48e-6 SMART
CA 155 240 1.57e-17 SMART
CA 264 343 1.29e-27 SMART
CA 367 448 9.14e-28 SMART
CA 472 558 1.24e-24 SMART
CA 589 670 3.73e-10 SMART
transmembrane domain 689 711 N/A INTRINSIC
low complexity region 716 721 N/A INTRINSIC
low complexity region 910 929 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000194418
AA Change: N918K
SMART Domains Protein: ENSMUSP00000142140
Gene: ENSMUSG00000103677
AA Change: N918K

DomainStartEndE-ValueType
CA 44 130 1.64e-2 SMART
CA 154 239 3.93e-18 SMART
CA 263 344 5.22e-23 SMART
CA 368 449 5.02e-25 SMART
CA 473 559 2.07e-26 SMART
CA 590 668 6.84e-18 SMART
transmembrane domain 690 712 N/A INTRINSIC
low complexity region 911 930 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000195239
AA Change: N119K
SMART Domains Protein: ENSMUSP00000141244
Gene: ENSMUSG00000023036
AA Change: N119K

DomainStartEndE-ValueType
low complexity region 112 131 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000208907
AA Change: N919K
Predicted Effect unknown
Transcript: ENSMUST00000195764
AA Change: N919K
SMART Domains Protein: ENSMUSP00000142272
Gene: ENSMUSG00000103081
AA Change: N919K

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
CA 57 132 1.5e-4 SMART
CA 156 241 1.2e-20 SMART
CA 265 346 7.8e-29 SMART
CA 370 451 1.7e-26 SMART
CA 475 561 2.2e-26 SMART
CA 592 673 6.4e-12 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 911 930 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193890
Predicted Effect probably benign
Transcript: ENSMUST00000193941
Meta Mutation Damage Score 0.0904 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null/reporter allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 127 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik A G 11: 3,840,067 (GRCm39) L110P probably damaging Het
6030458C11Rik T C 15: 12,817,993 (GRCm39) D168G probably damaging Het
Abca13 A T 11: 9,242,134 (GRCm39) E1332D probably benign Het
Abhd11 A G 5: 135,040,471 (GRCm39) Y168C probably damaging Het
Actr5 A C 2: 158,480,643 (GRCm39) T554P probably damaging Het
Adam34l A T 8: 44,078,132 (GRCm39) Y697* probably null Het
Adamts16 A G 13: 70,883,866 (GRCm39) L1103P probably damaging Het
Adgrb3 A T 1: 25,865,519 (GRCm39) I108K possibly damaging Het
Agbl4 T A 4: 111,423,826 (GRCm39) M284K possibly damaging Het
Aoc3 T A 11: 101,222,293 (GRCm39) Y176* probably null Het
Aox1 A G 1: 58,115,262 (GRCm39) E749G probably damaging Het
Ap4b1 T A 3: 103,728,184 (GRCm39) Y399* probably null Het
Arhgef5 A T 6: 43,265,616 (GRCm39) I1553F probably damaging Het
Bag6 T C 17: 35,361,802 (GRCm39) V541A probably benign Het
Bdp1 A C 13: 100,178,709 (GRCm39) V1879G probably damaging Het
Bod1l G A 5: 41,991,018 (GRCm39) S179F possibly damaging Het
Bsnd C T 4: 106,343,833 (GRCm39) V158I probably benign Het
Cachd1 C A 4: 100,840,587 (GRCm39) H880N probably damaging Het
Ccdc27 T C 4: 154,111,220 (GRCm39) probably null Het
Cd74 C T 18: 60,943,484 (GRCm39) P190S probably benign Het
Cep68 A T 11: 20,190,217 (GRCm39) L265Q probably damaging Het
Cfap70 G A 14: 20,458,678 (GRCm39) Q772* probably null Het
CK137956 T A 4: 127,864,327 (GRCm39) S101C possibly damaging Het
Clca3a2 G A 3: 144,512,164 (GRCm39) T524M probably benign Het
Cxcr6 T C 9: 123,639,022 (GRCm39) S15P probably benign Het
Cyfip2 T A 11: 46,114,995 (GRCm39) Y904F probably benign Het
D130040H23Rik T A 8: 69,755,354 (GRCm39) I253N probably benign Het
Ddx56 C T 11: 6,213,993 (GRCm39) V389M possibly damaging Het
Dmp1 A T 5: 104,359,942 (GRCm39) D206V probably damaging Het
Dnah17 A T 11: 117,938,015 (GRCm39) C3350* probably null Het
Dst A T 1: 34,291,913 (GRCm39) S877C probably damaging Het
Ermp1 A G 19: 29,623,415 (GRCm39) S192P possibly damaging Het
F13b G A 1: 139,438,672 (GRCm39) D359N probably benign Het
Fam171a1 A T 2: 3,227,189 (GRCm39) Q769L possibly damaging Het
Fap T C 2: 62,359,071 (GRCm39) R411G probably damaging Het
Fbn1 A G 2: 125,193,947 (GRCm39) V1340A probably benign Het
Fbxw19 T C 9: 109,311,100 (GRCm39) I370V probably benign Het
Foxi1 A T 11: 34,157,937 (GRCm39) N29K possibly damaging Het
Frem2 T G 3: 53,442,617 (GRCm39) D2640A probably benign Het
Fzd4 T C 7: 89,056,454 (GRCm39) V167A probably benign Het
Galnt3 T C 2: 65,928,123 (GRCm39) I258V possibly damaging Het
Galr2 T C 11: 116,174,069 (GRCm39) V233A possibly damaging Het
Gldc G T 19: 30,116,732 (GRCm39) Q407K probably benign Het
Gmcl1 T C 6: 86,674,498 (GRCm39) D460G probably benign Het
Gpr89 A G 3: 96,782,975 (GRCm39) I325T probably benign Het
Grap T A 11: 61,555,015 (GRCm39) Y61N possibly damaging Het
Hbs1l G T 10: 21,234,305 (GRCm39) probably null Het
Hexb T A 13: 97,327,767 (GRCm39) E134D probably benign Het
Hydin T A 8: 111,227,337 (GRCm39) V1507D possibly damaging Het
Igkv8-16 C A 6: 70,363,971 (GRCm39) G17V probably benign Het
Kdm4a T A 4: 117,996,068 (GRCm39) Q987L probably null Het
Krt76 A G 15: 101,797,922 (GRCm39) probably null Het
Lap3 T C 5: 45,660,729 (GRCm39) S238P probably benign Het
Letm2 T C 8: 26,071,729 (GRCm39) D391G probably damaging Het
Lipn A G 19: 34,058,139 (GRCm39) T287A possibly damaging Het
Macf1 T C 4: 123,244,921 (GRCm39) S466G probably damaging Het
Map3k5 C A 10: 20,007,855 (GRCm39) S1220* probably null Het
Map4 T A 9: 109,897,996 (GRCm39) S754R possibly damaging Het
Map4 T C 9: 109,864,032 (GRCm39) V419A probably benign Het
Mroh9 A G 1: 162,854,082 (GRCm39) S773P probably damaging Het
Mtus1 A C 8: 41,529,267 (GRCm39) probably null Het
Muc1 C T 3: 89,139,117 (GRCm39) P533S probably damaging Het
Muc13 A T 16: 33,624,970 (GRCm39) I282F probably damaging Het
Mucl3 A G 17: 35,949,305 (GRCm39) L98P possibly damaging Het
Myh14 T A 7: 44,261,067 (GRCm39) Q1816L possibly damaging Het
Nalcn A C 14: 123,831,965 (GRCm39) V103G possibly damaging Het
Nlrp9c G A 7: 26,084,245 (GRCm39) Q445* probably null Het
Olfml2b A G 1: 170,496,812 (GRCm39) D481G probably damaging Het
Or13g1 T A 7: 85,955,875 (GRCm39) I149F possibly damaging Het
Or2ag19 T G 7: 106,444,301 (GRCm39) I161S probably benign Het
Or5g23 A G 2: 85,438,844 (GRCm39) S137P probably benign Het
Or8b37 T A 9: 37,959,498 (GRCm39) probably null Het
Or8k3b T A 2: 86,520,735 (GRCm39) I195F probably damaging Het
Pcdhb2 A T 18: 37,430,408 (GRCm39) probably null Het
Pcdhb22 A C 18: 37,652,200 (GRCm39) T223P probably damaging Het
Pcnt T C 10: 76,215,740 (GRCm39) E2347G probably null Het
Phax T A 18: 56,706,176 (GRCm39) V22D probably benign Het
Pik3ca T C 3: 32,504,499 (GRCm39) F667S probably damaging Het
Pkd1 T C 17: 24,813,905 (GRCm39) F4123S probably damaging Het
Pkhd1 A G 1: 20,685,491 (GRCm39) probably null Het
Plcb1 G A 2: 135,152,934 (GRCm39) R368K probably benign Het
Prrc2a G T 17: 35,372,284 (GRCm39) R1739S possibly damaging Het
Psg23 A T 7: 18,348,543 (GRCm39) M88K probably benign Het
Pstk T A 7: 130,989,526 (GRCm39) Y354N probably damaging Het
Rab39 A G 9: 53,617,231 (GRCm39) I62T possibly damaging Het
Ranbp2 A G 10: 58,328,383 (GRCm39) I2800V probably damaging Het
Rasgrp1 T C 2: 117,120,828 (GRCm39) Y431C probably damaging Het
Rest T A 5: 77,416,209 (GRCm39) V141E possibly damaging Het
Rnf167 T A 11: 70,540,965 (GRCm39) I197N possibly damaging Het
Rtn1 A G 12: 72,354,942 (GRCm39) S335P probably damaging Het
Ryr2 G T 13: 11,676,961 (GRCm39) R3297S probably damaging Het
S1pr3 A C 13: 51,573,952 (GRCm39) K378Q probably benign Het
Scgb1b24 T C 7: 33,443,469 (GRCm39) Y43H probably damaging Het
Sh3rf3 T A 10: 58,919,335 (GRCm39) M484K probably damaging Het
Shank1 A T 7: 43,991,539 (GRCm39) R69* probably null Het
Siglecf A G 7: 43,004,967 (GRCm39) N399S probably benign Het
Slc1a7 A G 4: 107,865,561 (GRCm39) T350A probably damaging Het
Slc25a54 T A 3: 108,987,932 (GRCm39) Y24* probably null Het
Slk T C 19: 47,613,891 (GRCm39) F916L probably damaging Het
Snap91 T A 9: 86,672,194 (GRCm39) probably null Het
Snrpb2 A T 2: 142,907,106 (GRCm39) R25S possibly damaging Het
Specc1l T C 10: 75,097,659 (GRCm39) Y811H probably damaging Het
Sprr2h A G 3: 92,293,925 (GRCm39) probably benign Het
Sult2a5 A T 7: 13,358,045 (GRCm39) I26F probably benign Het
Syt13 C T 2: 92,776,448 (GRCm39) T245I possibly damaging Het
Tecrl T A 5: 83,502,706 (GRCm39) T33S probably benign Het
Telo2 T A 17: 25,333,968 (GRCm39) D93V probably benign Het
Tet2 A T 3: 133,187,202 (GRCm39) probably null Het
Tgm7 A T 2: 120,931,570 (GRCm39) C198S probably damaging Het
Ticrr T C 7: 79,328,883 (GRCm39) F674S probably damaging Het
Tmem129 C A 5: 33,811,843 (GRCm39) C31F probably damaging Het
Tmem132a T A 19: 10,836,052 (GRCm39) D826V possibly damaging Het
Tpd52 T C 3: 9,018,862 (GRCm39) probably null Het
Trub2 A G 2: 29,667,678 (GRCm39) S321P probably benign Het
Ttc29 A G 8: 79,009,014 (GRCm39) T295A probably benign Het
Tubb1 G A 2: 174,298,482 (GRCm39) S89N probably benign Het
Tut4 T A 4: 108,386,497 (GRCm39) F1122L probably damaging Het
Ubap2 C A 4: 41,233,617 (GRCm39) G91V probably damaging Het
Ugt2b35 A G 5: 87,149,147 (GRCm39) N133D probably damaging Het
Usp34 A G 11: 23,314,479 (GRCm39) H807R probably benign Het
Vmn1r220 A C 13: 23,368,457 (GRCm39) C80G probably damaging Het
Vmn1r79 A G 7: 11,910,574 (GRCm39) E152G probably benign Het
Vmn2r28 T C 7: 5,489,345 (GRCm39) Y498C probably benign Het
Wif1 A G 10: 120,920,824 (GRCm39) I215M probably benign Het
Wnk1 T C 6: 119,928,050 (GRCm39) T1134A probably damaging Het
Zfp90 A G 8: 107,145,755 (GRCm39) H29R probably benign Het
Zfp972 A G 2: 177,563,480 (GRCm39) probably null Het
Other mutations in Pcdhga1
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB009:Pcdhga1 UTSW 18 37,796,513 (GRCm39) missense probably damaging 1.00
BB019:Pcdhga1 UTSW 18 37,796,513 (GRCm39) missense probably damaging 1.00
R1074:Pcdhga1 UTSW 18 37,958,140 (GRCm39) splice site probably benign
R1871:Pcdhga1 UTSW 18 37,973,143 (GRCm39) missense probably damaging 0.98
R3723:Pcdhga1 UTSW 18 37,796,045 (GRCm39) missense possibly damaging 0.89
R3732:Pcdhga1 UTSW 18 37,797,176 (GRCm39) missense probably benign 0.00
R4243:Pcdhga1 UTSW 18 37,796,605 (GRCm39) missense probably damaging 1.00
R4245:Pcdhga1 UTSW 18 37,796,605 (GRCm39) missense probably damaging 1.00
R4424:Pcdhga1 UTSW 18 37,795,632 (GRCm39) missense probably damaging 0.97
R4898:Pcdhga1 UTSW 18 37,795,407 (GRCm39) missense possibly damaging 0.63
R4941:Pcdhga1 UTSW 18 37,795,659 (GRCm39) missense probably benign 0.10
R5021:Pcdhga1 UTSW 18 37,796,876 (GRCm39) missense probably damaging 1.00
R5765:Pcdhga1 UTSW 18 37,796,714 (GRCm39) missense probably benign 0.31
R6176:Pcdhga1 UTSW 18 37,797,282 (GRCm39) missense probably benign 0.22
R6380:Pcdhga1 UTSW 18 37,796,022 (GRCm39) missense probably damaging 1.00
R7062:Pcdhga1 UTSW 18 37,958,130 (GRCm39) missense probably damaging 1.00
R7146:Pcdhga1 UTSW 18 37,795,164 (GRCm39) missense probably benign 0.04
R7266:Pcdhga1 UTSW 18 37,973,028 (GRCm39) missense possibly damaging 0.94
R7525:Pcdhga1 UTSW 18 37,795,281 (GRCm39) missense probably damaging 1.00
R7553:Pcdhga1 UTSW 18 37,882,735 (GRCm39) splice site probably null
R7581:Pcdhga1 UTSW 18 37,795,230 (GRCm39) missense probably damaging 1.00
R7932:Pcdhga1 UTSW 18 37,796,513 (GRCm39) missense probably damaging 1.00
R8330:Pcdhga1 UTSW 18 37,796,376 (GRCm39) missense probably benign 0.19
R8385:Pcdhga1 UTSW 18 37,795,149 (GRCm39) missense probably damaging 1.00
R8549:Pcdhga1 UTSW 18 37,966,386 (GRCm39) makesense probably null
R9147:Pcdhga1 UTSW 18 37,796,433 (GRCm39) missense possibly damaging 0.54
R9148:Pcdhga1 UTSW 18 37,796,433 (GRCm39) missense possibly damaging 0.54
R9192:Pcdhga1 UTSW 18 37,973,084 (GRCm39) missense probably damaging 1.00
R9336:Pcdhga1 UTSW 18 37,795,251 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- ACTGACCCCATCTGACCATCTG -3'
(R):5'- TGTTTCTGTTTCCCAACGGG -3'

Sequencing Primer
(F):5'- TGCTGATGGGAGCTCTACC -3'
(R):5'- CCAACGGGGAGCATGGC -3'
Posted On 2014-06-30