Incidental Mutation 'R9393:Pcdhga6'
ID 710715
Institutional Source Beutler Lab
Gene Symbol Pcdhga6
Ensembl Gene ENSMUSG00000103793
Gene Name protocadherin gamma subfamily A, 6
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R9393 (G1)
Quality Score 209.009
Status Not validated
Chromosome 18
Chromosomal Location 37840154-37974923 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to T at 37840212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073447] [ENSMUST00000115661] [ENSMUST00000192931] [ENSMUST00000193414] [ENSMUST00000193869] [ENSMUST00000194190] [ENSMUST00000194418] [ENSMUST00000194544] [ENSMUST00000195112] [ENSMUST00000195823]
AlphaFold Q91XY2
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 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 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: 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: 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: 99.6%
  • 20x: 98.7%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,616,270 (GRCm39) S133G possibly damaging Het
Agps A G 2: 75,735,256 (GRCm39) E567G possibly damaging Het
Ak9 T C 10: 41,285,068 (GRCm39) I1381T unknown Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Arrb1 T A 7: 99,238,891 (GRCm39) C150S probably damaging Het
Asz1 T C 6: 18,051,330 (GRCm39) I450V probably benign Het
Atp10b A G 11: 43,063,608 (GRCm39) N181S probably damaging Het
Bptf A C 11: 106,965,134 (GRCm39) D1353E probably benign Het
Cacna2d1 T C 5: 16,140,013 (GRCm39) M1T probably null Het
Ccdc106 T A 7: 5,059,200 (GRCm39) I6N possibly damaging Het
Celf6 A T 9: 59,510,525 (GRCm39) Q252L probably benign Het
Colgalt2 A T 1: 152,360,598 (GRCm39) K212* probably null Het
Cryba4 T C 5: 112,394,632 (GRCm39) S166G probably benign Het
Cyp2w1 A G 5: 139,342,035 (GRCm39) E123G probably benign Het
Cyp4a10 G C 4: 115,382,566 (GRCm39) K285N probably damaging Het
Cyth1 G T 11: 118,074,710 (GRCm39) T197K probably benign Het
Ddhd1 A G 14: 45,894,685 (GRCm39) W262R probably damaging Het
Dnah8 T A 17: 30,872,361 (GRCm39) V450D possibly damaging Het
Eml5 C T 12: 98,842,433 (GRCm39) V222I probably benign Het
Fbxw19 A G 9: 109,324,873 (GRCm39) S15P probably damaging Het
Fhip2b G A 14: 70,831,463 (GRCm39) Q24* probably null Het
Fignl2 C A 15: 100,951,466 (GRCm39) R272L unknown Het
Gm10842 A T 11: 105,037,885 (GRCm39) D56V unknown Het
Gmps T A 3: 63,900,640 (GRCm39) N305K probably benign Het
Gnai1 A T 5: 18,565,055 (GRCm39) L38Q Het
Golim4 A T 3: 75,785,464 (GRCm39) D642E probably benign Het
Gp1ba A T 11: 70,531,293 (GRCm39) Q353L unknown Het
Gpnmb T C 6: 49,024,996 (GRCm39) S343P possibly damaging Het
Hexb G A 13: 97,313,336 (GRCm39) R507* probably null Het
Ifitm10 A T 7: 141,924,704 (GRCm39) V45D probably damaging Het
Khsrp T C 17: 57,330,350 (GRCm39) Y585C probably damaging Het
Kif21a A T 15: 90,853,981 (GRCm39) D795E probably benign Het
Klkb1 A T 8: 45,729,392 (GRCm39) V309E probably benign Het
Krtap9-1 C A 11: 99,764,664 (GRCm39) C133* probably null Het
Krtcap2 T C 3: 89,153,578 (GRCm39) probably benign Het
Lilra5 T C 7: 4,240,758 (GRCm39) M1T probably null Het
Magi1 G A 6: 93,659,890 (GRCm39) T1019I probably benign Het
Mdn1 T A 4: 32,713,825 (GRCm39) H1967Q Het
Mgat4f A G 1: 134,318,596 (GRCm39) D456G probably benign Het
Mroh2b A T 15: 4,980,666 (GRCm39) T1412S probably benign Het
Myh13 A T 11: 67,242,894 (GRCm39) M936L probably benign Het
Nalf2 C T X: 98,889,097 (GRCm39) R321W probably damaging Het
Ncapd3 A G 9: 26,962,682 (GRCm39) T373A possibly damaging Het
Noc2l T C 4: 156,320,784 (GRCm39) probably null Het
Nrg4 C T 9: 55,149,420 (GRCm39) S59N probably benign Het
Nrip1 A G 16: 76,091,353 (GRCm39) V68A probably benign Het
Or11g24 T C 14: 50,662,255 (GRCm39) V93A probably benign Het
Or9k2 T C 10: 129,999,016 (GRCm39) T60A probably benign Het
Phf20l1 A G 15: 66,475,955 (GRCm39) N196S probably damaging Het
Ppp4r4 T A 12: 103,571,296 (GRCm39) Y787* probably null Het
Psma8 G A 18: 14,839,298 (GRCm39) R4Q probably null Het
Reg4 A G 3: 98,137,168 (GRCm39) K46E probably benign Het
Rnf14 T A 18: 38,442,680 (GRCm39) M327K possibly damaging Het
Rtn1 A T 12: 72,263,586 (GRCm39) Y753* probably null Het
Slc26a11 A G 11: 119,259,627 (GRCm39) R275G probably benign Het
Stard9 A G 2: 120,518,656 (GRCm39) T527A possibly damaging Het
Stk26 C T X: 49,930,618 (GRCm39) probably benign Het
Tas1r1 C T 4: 152,116,413 (GRCm39) C407Y probably damaging Het
Tcstv1b A T 13: 120,634,958 (GRCm39) Y80F probably benign Het
Tenm3 A G 8: 49,127,559 (GRCm39) S40P probably damaging Het
Tespa1 T A 10: 130,183,066 (GRCm39) S4T probably damaging Het
Tlr11 A G 14: 50,599,547 (GRCm39) N511S probably benign Het
Tmprss15 A G 16: 78,754,211 (GRCm39) I1014T probably benign Het
Tpte T A 8: 22,774,990 (GRCm39) M20K probably benign Het
Ttn A G 2: 76,612,390 (GRCm39) V17199A possibly damaging Het
Tubgcp3 A G 8: 12,703,411 (GRCm39) Y305H probably damaging Het
Ubr4 T A 4: 139,212,613 (GRCm39) V5081E unknown Het
Unkl T C 17: 25,448,392 (GRCm39) S322P probably damaging Het
Uqcc6 A G 10: 82,458,475 (GRCm39) S59P unknown Het
Vav3 T A 3: 109,485,682 (GRCm39) probably null Het
Vmn1r76 A G 7: 11,664,765 (GRCm39) S150P probably benign Het
Xpot A G 10: 121,445,600 (GRCm39) probably null Het
Xylt1 A G 7: 117,242,906 (GRCm39) I650V probably benign Het
Zan C A 5: 137,403,682 (GRCm39) A3955S unknown Het
Other mutations in Pcdhga6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3551:Pcdhga6 UTSW 18 37,841,270 (GRCm39) missense probably benign 0.42
R3552:Pcdhga6 UTSW 18 37,841,270 (GRCm39) missense probably benign 0.42
R3688:Pcdhga6 UTSW 18 37,841,594 (GRCm39) missense probably damaging 1.00
R3713:Pcdhga6 UTSW 18 37,840,976 (GRCm39) missense probably damaging 0.99
R3832:Pcdhga6 UTSW 18 37,841,479 (GRCm39) missense probably damaging 1.00
R3833:Pcdhga6 UTSW 18 37,841,479 (GRCm39) missense probably damaging 1.00
R4607:Pcdhga6 UTSW 18 37,841,671 (GRCm39) missense probably damaging 1.00
R5594:Pcdhga6 UTSW 18 37,841,581 (GRCm39) missense probably benign 0.40
R5608:Pcdhga6 UTSW 18 37,840,514 (GRCm39) missense possibly damaging 0.50
R5887:Pcdhga6 UTSW 18 37,841,612 (GRCm39) missense probably damaging 1.00
R6188:Pcdhga6 UTSW 18 37,841,324 (GRCm39) missense probably benign 0.00
R6276:Pcdhga6 UTSW 18 37,840,697 (GRCm39) missense probably benign 0.28
R6494:Pcdhga6 UTSW 18 37,841,594 (GRCm39) missense probably damaging 1.00
R6619:Pcdhga6 UTSW 18 37,842,702 (GRCm39) missense probably benign 0.00
R7145:Pcdhga6 UTSW 18 37,840,781 (GRCm39) missense probably damaging 0.99
R7211:Pcdhga6 UTSW 18 37,842,173 (GRCm39) missense probably benign 0.01
R7313:Pcdhga6 UTSW 18 37,841,072 (GRCm39) missense possibly damaging 0.60
R7425:Pcdhga6 UTSW 18 37,841,619 (GRCm39) missense probably damaging 1.00
R7893:Pcdhga6 UTSW 18 37,841,066 (GRCm39) missense probably damaging 1.00
R7911:Pcdhga6 UTSW 18 37,842,479 (GRCm39) missense not run
R8257:Pcdhga6 UTSW 18 37,841,868 (GRCm39) missense probably benign 0.00
R8897:Pcdhga6 UTSW 18 37,841,642 (GRCm39) missense probably benign 0.04
R8938:Pcdhga6 UTSW 18 37,841,562 (GRCm39) missense probably benign 0.35
R8954:Pcdhga6 UTSW 18 37,841,540 (GRCm39) missense probably damaging 1.00
R8978:Pcdhga6 UTSW 18 37,840,716 (GRCm39) missense probably benign 0.42
R9009:Pcdhga6 UTSW 18 37,841,878 (GRCm39) missense possibly damaging 0.62
R9101:Pcdhga6 UTSW 18 37,841,393 (GRCm39) missense possibly damaging 0.64
R9265:Pcdhga6 UTSW 18 37,841,102 (GRCm39) missense possibly damaging 0.71
R9377:Pcdhga6 UTSW 18 37,841,570 (GRCm39) missense probably damaging 0.99
R9381:Pcdhga6 UTSW 18 37,841,371 (GRCm39) missense probably damaging 0.98
Z1177:Pcdhga6 UTSW 18 37,841,494 (GRCm39) missense probably benign 0.14
Predicted Primers
Posted On 2022-04-18