Incidental Mutation 'R3950:Pcdhga7'
ID 474819
Institutional Source Beutler Lab
Gene Symbol Pcdhga7
Ensembl Gene ENSMUSG00000103472
Gene Name protocadherin gamma subfamily A, 7
Synonyms
MMRRC Submission 040930-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R3950 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37847887-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37849568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 525 (E525G)
Ref Sequence ENSEMBL: ENSMUSP00000142126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073447] [ENSMUST00000115661] [ENSMUST00000192511] [ENSMUST00000192931] [ENSMUST00000193414] [ENSMUST00000193476] [ENSMUST00000193869] [ENSMUST00000195112] [ENSMUST00000194190] [ENSMUST00000195823] [ENSMUST00000194544] [ENSMUST00000194418] [ENSMUST00000195363]
AlphaFold Q6DD96
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: 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 damaging
Transcript: ENSMUST00000192511
AA Change: E525G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472
AA Change: E525G

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: 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: 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 damaging
Transcript: ENSMUST00000193476
AA Change: E525G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142126
Gene: ENSMUSG00000103472
AA Change: E525G

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
CA 47 133 7.6e-5 SMART
CA 157 242 1.6e-21 SMART
CA 266 347 1.6e-25 SMART
CA 371 452 4.5e-25 SMART
CA 476 562 6.6e-27 SMART
CA 593 671 1.7e-17 SMART
transmembrane domain 694 716 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193815
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195069
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: 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: 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: 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
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: 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: 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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,494,747 (GRCm39) probably null Het
Ahnak2 A T 12: 112,749,409 (GRCm39) I186N probably damaging Het
Appbp2 A G 11: 85,085,532 (GRCm39) I458T probably damaging Het
Arhgef25 T C 10: 127,021,013 (GRCm39) Y291C probably damaging Het
Ate1 T C 7: 130,069,022 (GRCm39) Y415C probably damaging Het
B4galt4 G T 16: 38,588,384 (GRCm39) A72S probably benign Het
C3 T C 17: 57,532,286 (GRCm39) R178G probably benign Het
Cdh23 T C 10: 60,493,105 (GRCm39) Y3C probably benign Het
Col11a1 T C 3: 113,915,094 (GRCm39) probably null Het
Col22a1 A G 15: 71,849,207 (GRCm39) F294L possibly damaging Het
Dera A G 6: 137,814,118 (GRCm39) Y100C probably damaging Het
Dync2h1 A T 9: 7,112,061 (GRCm39) Y276* probably null Het
Eea1 A T 10: 95,877,996 (GRCm39) N1389I probably damaging Het
Epha4 A T 1: 77,376,353 (GRCm39) Y509N probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fezf1 T A 6: 23,247,419 (GRCm39) K219* probably null Het
Fsd1 G A 17: 56,302,517 (GRCm39) probably null Het
Haspin A G 11: 73,027,221 (GRCm39) Y623H probably damaging Het
Hsd3b1 C T 3: 98,763,454 (GRCm39) V56M possibly damaging Het
Hyou1 C T 9: 44,296,524 (GRCm39) T483I probably damaging Het
Kdm2a A G 19: 4,393,260 (GRCm39) L365S possibly damaging Het
Kdm6b G T 11: 69,296,441 (GRCm39) P609T probably damaging Het
Klhl18 T A 9: 110,257,970 (GRCm39) Y490F probably damaging Het
Ky C T 9: 102,419,627 (GRCm39) Q545* probably null Het
L1td1 T C 4: 98,625,590 (GRCm39) L595P probably benign Het
Map3k20 T G 2: 72,268,644 (GRCm39) I550M probably damaging Het
Mug1 T A 6: 121,855,489 (GRCm39) V941E probably damaging Het
Ndst1 T C 18: 60,830,211 (GRCm39) N633S probably benign Het
Ninl A T 2: 150,794,408 (GRCm39) I740K possibly damaging Het
Npepl1 A G 2: 173,962,906 (GRCm39) N431D probably damaging Het
Or5w10 T C 2: 87,375,409 (GRCm39) T160A probably damaging Het
Pacs2 T C 12: 113,024,733 (GRCm39) S408P probably damaging Het
Pard6b C T 2: 167,941,114 (GRCm39) T367I probably damaging Het
Pctp A G 11: 89,878,144 (GRCm39) I130T probably benign Het
Pcx C T 19: 4,667,995 (GRCm39) H506Y probably benign Het
Pdhx A G 2: 102,865,586 (GRCm39) S199P probably damaging Het
Pdia2 C A 17: 26,416,590 (GRCm39) probably null Het
Pif1 C A 9: 65,499,116 (GRCm39) N445K probably damaging Het
Prickle4 T C 17: 47,999,507 (GRCm39) K349E probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptpdc1 A T 13: 48,742,670 (GRCm39) M173K probably damaging Het
Rb1 A G 14: 73,500,102 (GRCm39) L515P probably damaging Het
Rcvrn A G 11: 67,590,877 (GRCm39) K154E probably damaging Het
Ros1 C T 10: 51,942,484 (GRCm39) V2059I probably damaging Het
Rtn4ip1 T A 10: 43,785,893 (GRCm39) probably null Het
Sema5a T C 15: 32,689,484 (GRCm39) Y1050H probably damaging Het
Slc25a28 C T 19: 43,652,708 (GRCm39) V318I probably benign Het
Srek1 G A 13: 103,881,403 (GRCm39) R408W unknown Het
Synrg C T 11: 83,880,641 (GRCm39) T444I probably damaging Het
Ticrr T C 7: 79,331,817 (GRCm39) L776S probably damaging Het
Tmem127 T C 2: 127,090,577 (GRCm39) L31P probably damaging Het
Tmprss15 T A 16: 78,870,074 (GRCm39) T190S probably benign Het
Trip10 T A 17: 57,560,411 (GRCm39) probably null Het
Ttc6 A G 12: 57,696,292 (GRCm39) Y31C probably damaging Het
Unc80 A T 1: 66,661,729 (GRCm39) H1718L possibly damaging Het
Zbtb38 A G 9: 96,569,599 (GRCm39) F495S probably damaging Het
Zfp280d G T 9: 72,203,301 (GRCm39) Q16H possibly damaging Het
Zfp521 A G 18: 13,979,403 (GRCm39) S337P probably damaging Het
Zswim9 T A 7: 12,995,503 (GRCm39) T218S possibly damaging Het
Other mutations in Pcdhga7
AlleleSourceChrCoordTypePredicted EffectPPH Score
micro UTSW 18 37,850,327 (GRCm39) missense probably benign 0.04
milli UTSW 18 37,849,483 (GRCm39) missense probably benign 0.27
R3012:Pcdhga7 UTSW 18 37,848,691 (GRCm39) missense probably benign 0.01
R4697:Pcdhga7 UTSW 18 37,850,261 (GRCm39) missense probably damaging 1.00
R4985:Pcdhga7 UTSW 18 37,848,698 (GRCm39) missense probably benign 0.02
R5073:Pcdhga7 UTSW 18 37,849,025 (GRCm39) missense probably damaging 1.00
R5137:Pcdhga7 UTSW 18 37,850,433 (GRCm39) missense probably damaging 0.99
R5424:Pcdhga7 UTSW 18 37,848,388 (GRCm39) missense probably benign 0.07
R5534:Pcdhga7 UTSW 18 37,849,331 (GRCm39) missense probably damaging 1.00
R5619:Pcdhga7 UTSW 18 37,848,800 (GRCm39) missense probably benign 0.00
R5689:Pcdhga7 UTSW 18 37,849,736 (GRCm39) missense probably damaging 1.00
R6200:Pcdhga7 UTSW 18 37,849,135 (GRCm39) missense probably damaging 0.99
R6235:Pcdhga7 UTSW 18 37,849,483 (GRCm39) missense probably benign 0.27
R6597:Pcdhga7 UTSW 18 37,850,059 (GRCm39) missense probably benign 0.24
R6684:Pcdhga7 UTSW 18 37,849,103 (GRCm39) missense probably damaging 1.00
R6714:Pcdhga7 UTSW 18 37,850,330 (GRCm39) missense probably benign 0.00
R6810:Pcdhga7 UTSW 18 37,848,926 (GRCm39) missense probably benign 0.24
R6920:Pcdhga7 UTSW 18 37,848,199 (GRCm39) missense probably benign 0.00
R6922:Pcdhga7 UTSW 18 37,848,710 (GRCm39) missense probably damaging 0.99
R7051:Pcdhga7 UTSW 18 37,849,994 (GRCm39) missense probably damaging 1.00
R7072:Pcdhga7 UTSW 18 37,850,329 (GRCm39) missense probably benign 0.01
R7265:Pcdhga7 UTSW 18 37,849,969 (GRCm39) missense probably damaging 1.00
R7397:Pcdhga7 UTSW 18 37,850,327 (GRCm39) missense probably benign 0.04
R7450:Pcdhga7 UTSW 18 37,849,079 (GRCm39) missense probably benign 0.27
R7451:Pcdhga7 UTSW 18 37,849,057 (GRCm39) missense possibly damaging 0.67
R7790:Pcdhga7 UTSW 18 37,847,996 (GRCm39) start codon destroyed probably null 0.85
R7833:Pcdhga7 UTSW 18 37,849,077 (GRCm39) missense possibly damaging 0.52
R7922:Pcdhga7 UTSW 18 37,849,226 (GRCm39) missense probably benign 0.00
R7935:Pcdhga7 UTSW 18 37,849,562 (GRCm39) missense possibly damaging 0.91
R8007:Pcdhga7 UTSW 18 37,849,946 (GRCm39) missense probably benign 0.06
R8073:Pcdhga7 UTSW 18 37,848,398 (GRCm39) missense probably damaging 1.00
R8724:Pcdhga7 UTSW 18 37,848,146 (GRCm39) missense probably benign 0.02
R8962:Pcdhga7 UTSW 18 37,848,879 (GRCm39) missense probably benign 0.01
R9191:Pcdhga7 UTSW 18 37,848,932 (GRCm39) missense probably benign 0.00
R9684:Pcdhga7 UTSW 18 37,848,667 (GRCm39) missense probably damaging 0.98
Predicted Primers
Posted On 2017-04-14