Incidental Mutation 'R6843:Pcdhga11'
ID 534646
Institutional Source Beutler Lab
Gene Symbol Pcdhga11
Ensembl Gene ENSMUSG00000102742
Gene Name protocadherin gamma subfamily A, 11
Synonyms
MMRRC Submission 044949-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R6843 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37888826-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37889378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 129 (N129D)
Ref Sequence ENSEMBL: ENSMUSP00000058362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003599] [ENSMUST00000061279] [ENSMUST00000066149] [ENSMUST00000073447] [ENSMUST00000091935] [ENSMUST00000115661] [ENSMUST00000192511] [ENSMUST00000192535] [ENSMUST00000192931] [ENSMUST00000193404] [ENSMUST00000193414] [ENSMUST00000193869] [ENSMUST00000194190] [ENSMUST00000194418] [ENSMUST00000194544] [ENSMUST00000194928] [ENSMUST00000195112] [ENSMUST00000195363] [ENSMUST00000195823]
AlphaFold Q91XY8
Predicted Effect probably benign
Transcript: ENSMUST00000003599
SMART Domains Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088

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 damaging
Transcript: ENSMUST00000061279
AA Change: N129D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058362
Gene: ENSMUSG00000102742
AA Change: N129D

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 benign
Transcript: ENSMUST00000066149
SMART Domains Protein: ENSMUSP00000067728
Gene: ENSMUSG00000103897

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 probably benign
Transcript: ENSMUST00000073447
SMART Domains Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346

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 probably benign
Transcript: ENSMUST00000091935
SMART Domains Protein: ENSMUSP00000089555
Gene: ENSMUSG00000102440

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 probably benign
Transcript: ENSMUST00000115661
SMART Domains Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

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 probably benign
Transcript: ENSMUST00000192511
SMART Domains Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472

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 benign
Transcript: ENSMUST00000192535
SMART Domains Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749

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 probably benign
Transcript: ENSMUST00000192931
SMART Domains Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037

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 probably benign
Transcript: ENSMUST00000193404
SMART Domains Protein: ENSMUSP00000141359
Gene: ENSMUSG00000102222

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 probably benign
Transcript: ENSMUST00000193414
SMART Domains Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567

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 probably benign
Transcript: ENSMUST00000193869
SMART Domains Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332

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 probably benign
Transcript: ENSMUST00000193984
Predicted Effect probably benign
Transcript: ENSMUST00000194190
SMART Domains Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144

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 probably benign
Transcript: ENSMUST00000194418
SMART Domains Protein: ENSMUSP00000142140
Gene: ENSMUSG00000103677

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 probably benign
Transcript: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000194928
SMART Domains Protein: ENSMUSP00000141997
Gene: ENSMUSG00000104063

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 probably benign
Transcript: ENSMUST00000195112
SMART Domains Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748

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: ENSMUST00000195363
SMART Domains Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585

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 probably benign
Transcript: ENSMUST00000195823
SMART Domains Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
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]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,615,360 (GRCm39) Q78L probably benign Het
Akr1c21 A G 13: 4,625,213 (GRCm39) H48R probably damaging Het
Anks1b T A 10: 90,784,460 (GRCm39) S1143T probably damaging Het
Apip T G 2: 102,922,834 (GRCm39) F217L probably benign Het
Ash1l T A 3: 88,892,695 (GRCm39) Y1525N probably damaging Het
Bcl2l13 G A 6: 120,825,578 (GRCm39) probably null Het
Cep85 C G 4: 133,883,167 (GRCm39) A241P probably benign Het
Clk4 T G 11: 51,167,076 (GRCm39) probably null Het
Cnr2 C T 4: 135,644,900 (GRCm39) P326L probably benign Het
Cryaa A G 17: 31,897,147 (GRCm39) D58G possibly damaging Het
Crybg3 G A 16: 59,380,159 (GRCm39) T365M probably benign Het
Csmd2 A G 4: 128,357,587 (GRCm39) N1683D probably benign Het
Dbx2 T G 15: 95,552,340 (GRCm39) I102L possibly damaging Het
Dll4 A T 2: 119,156,475 (GRCm39) probably benign Het
Epb42 T A 2: 120,858,166 (GRCm39) Y264F possibly damaging Het
Exoc3l T A 8: 106,016,729 (GRCm39) H695L probably benign Het
Fhip1a G A 3: 85,580,352 (GRCm39) P618S probably damaging Het
Ghsr A C 3: 27,426,676 (GRCm39) D244A probably benign Het
Gm9195 A G 14: 72,678,651 (GRCm39) Y2268H possibly damaging Het
Hdac1 A G 4: 129,436,383 (GRCm39) Y14H probably damaging Het
Hdac3 A T 18: 38,075,007 (GRCm39) Y282N probably benign Het
Heg1 T A 16: 33,539,896 (GRCm39) N285K probably benign Het
Igkv4-90 A G 6: 68,784,670 (GRCm39) F8S possibly damaging Het
Map2k1 A T 9: 64,094,973 (GRCm39) D336E probably damaging Het
Map4k2 A T 19: 6,403,477 (GRCm39) I796F probably damaging Het
Mapk13 T A 17: 28,994,427 (GRCm39) probably null Het
Mprip A G 11: 59,650,554 (GRCm39) I1419M possibly damaging Het
Nrap T C 19: 56,368,651 (GRCm39) E255G probably damaging Het
Oprl1 A G 2: 181,357,547 (GRCm39) E11G probably damaging Het
Or1i2 T C 10: 78,447,891 (GRCm39) N195D probably damaging Het
Or4f14 T C 2: 111,743,260 (GRCm39) N5S probably damaging Het
Or52b3 A G 7: 102,203,928 (GRCm39) I146V probably benign Het
Or5b99 G T 19: 12,976,362 (GRCm39) C4F probably benign Het
Or6c209 A G 10: 129,483,048 (GRCm39) D17G possibly damaging Het
Palmd T A 3: 116,717,864 (GRCm39) D211V probably damaging Het
Plekha6 T A 1: 133,202,616 (GRCm39) M359K probably damaging Het
Plekha7 G T 7: 115,742,555 (GRCm39) H756Q probably benign Het
Ppfibp2 C T 7: 107,326,938 (GRCm39) P441S probably benign Het
Ptprk T C 10: 28,467,978 (GRCm39) I1373T possibly damaging Het
Serpinb9g G T 13: 33,676,900 (GRCm39) L227F probably damaging Het
Snapc4 C A 2: 26,263,611 (GRCm39) A11S probably benign Het
Sqor T C 2: 122,626,900 (GRCm39) V7A probably benign Het
Sqor G T 2: 122,651,215 (GRCm39) G437V probably damaging Het
Srrm3 T C 5: 135,881,135 (GRCm39) V145A probably benign Het
Stx1b G A 7: 127,414,151 (GRCm39) Q72* probably null Het
Syt7 A G 19: 10,399,135 (GRCm39) D77G probably damaging Het
Tvp23a G A 16: 10,264,884 (GRCm39) A9V probably benign Het
Vmn1r66 T A 7: 10,008,692 (GRCm39) I114F probably damaging Het
Vmn2r80 C A 10: 79,005,502 (GRCm39) Q380K probably benign Het
Xdh C T 17: 74,230,125 (GRCm39) E269K probably damaging Het
Zfp932 T C 5: 110,156,581 (GRCm39) M92T probably benign Het
Other mutations in Pcdhga11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0062:Pcdhga11 UTSW 18 37,941,528 (GRCm39) missense probably benign 0.01
R2571:Pcdhga11 UTSW 18 37,889,921 (GRCm39) missense probably damaging 1.00
R3840:Pcdhga11 UTSW 18 37,890,602 (GRCm39) missense probably damaging 0.96
R4871:Pcdhga11 UTSW 18 37,890,459 (GRCm39) missense probably damaging 1.00
R4945:Pcdhga11 UTSW 18 37,891,085 (GRCm39) missense probably benign 0.00
R5250:Pcdhga11 UTSW 18 37,890,990 (GRCm39) missense probably damaging 0.99
R5913:Pcdhga11 UTSW 18 37,891,142 (GRCm39) missense probably benign 0.14
R5913:Pcdhga11 UTSW 18 37,889,045 (GRCm39) missense probably benign 0.00
R6281:Pcdhga11 UTSW 18 37,890,426 (GRCm39) missense probably damaging 1.00
R7170:Pcdhga11 UTSW 18 37,889,717 (GRCm39) missense probably damaging 1.00
R7434:Pcdhga11 UTSW 18 37,891,005 (GRCm39) missense probably benign 0.12
R7502:Pcdhga11 UTSW 18 37,889,554 (GRCm39) missense probably benign 0.12
R7660:Pcdhga11 UTSW 18 37,890,183 (GRCm39) missense possibly damaging 0.93
R7731:Pcdhga11 UTSW 18 37,889,564 (GRCm39) missense probably benign 0.00
R7995:Pcdhga11 UTSW 18 37,890,078 (GRCm39) nonsense probably null
R8773:Pcdhga11 UTSW 18 37,890,364 (GRCm39) nonsense probably null
R9722:Pcdhga11 UTSW 18 37,890,398 (GRCm39) missense possibly damaging 0.70
Z1088:Pcdhga11 UTSW 18 37,889,237 (GRCm39) missense probably damaging 0.98
Z1177:Pcdhga11 UTSW 18 37,889,598 (GRCm39) missense probably damaging 1.00
Z1177:Pcdhga11 UTSW 18 37,889,596 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCATCTCCAGGGGACAATCG -3'
(R):5'- AGACCTTCCTCCAGCACTAG -3'

Sequencing Primer
(F):5'- AGGGGACAATCGCAGCTTTTC -3'
(R):5'- GCACTAGCTCTGGATTCTTGTC -3'
Posted On 2018-09-12