Incidental Mutation 'R9072:Pcdhga5'
ID 700840
Institutional Source Beutler Lab
Gene Symbol Pcdhga5
Ensembl Gene ENSMUSG00000103567
Gene Name protocadherin gamma subfamily A, 5
Synonyms
MMRRC Submission 068894-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R9072 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37827433-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37829537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 662 (I662V)
Ref Sequence ENSEMBL: ENSMUSP00000141893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073447] [ENSMUST00000115661] [ENSMUST00000192931] [ENSMUST00000193414] [ENSMUST00000193869] [ENSMUST00000194190] [ENSMUST00000194418] [ENSMUST00000194544] [ENSMUST00000195112]
AlphaFold Q91XY3
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
AA Change: I662V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567
AA Change: I662V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (63/63)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,240,834 (GRCm39) E899A possibly damaging Het
Best2 T A 8: 85,737,418 (GRCm39) I230F probably damaging Het
C2cd2 T C 16: 97,676,403 (GRCm39) E448G probably damaging Het
C2cd3 T G 7: 100,040,291 (GRCm39) S287A probably benign Het
Camta2 G A 11: 70,567,234 (GRCm39) P677S probably benign Het
Cand2 C T 6: 115,769,490 (GRCm39) R767C probably damaging Het
Celsr3 G A 9: 108,704,293 (GRCm39) E259K probably benign Het
Cep250 C G 2: 155,834,035 (GRCm39) Q1987E probably benign Het
Chn1 T C 2: 73,443,430 (GRCm39) D440G probably benign Het
Cmbl A T 15: 31,585,449 (GRCm39) D111V possibly damaging Het
Col5a3 T A 9: 20,682,453 (GRCm39) I1664F unknown Het
Cp T C 3: 20,033,158 (GRCm39) S662P possibly damaging Het
Cpne5 G A 17: 29,430,677 (GRCm39) R78C probably damaging Het
Cst5 A G 2: 149,249,261 (GRCm39) T104A probably benign Het
Cyp11b2 A G 15: 74,725,662 (GRCm39) F195S possibly damaging Het
Dcaf17 T C 2: 70,920,136 (GRCm39) Y475H probably benign Het
Edem2 G C 2: 155,571,212 (GRCm39) L16V unknown Het
Eeig1 A G 2: 32,455,674 (GRCm39) S267G probably benign Het
Ext2 A G 2: 93,644,144 (GRCm39) W46R probably benign Het
Gal3st3 T A 19: 5,352,605 (GRCm39) S11T probably benign Het
Garin5b A T 7: 4,762,253 (GRCm39) H265Q Het
Gfi1 T A 5: 107,865,725 (GRCm39) I451F possibly damaging Het
Gfpt2 T C 11: 49,714,185 (GRCm39) L314P probably damaging Het
Gm3250 A T 10: 77,618,127 (GRCm39) C84S unknown Het
Hmcn1 A T 1: 150,565,320 (GRCm39) V2269E probably benign Het
Ighv1-55 T C 12: 115,172,013 (GRCm39) H18R probably benign Het
Iqgap3 G A 3: 87,998,883 (GRCm39) G328E probably benign Het
Klf6 G T 13: 5,917,233 (GRCm39) C303F probably benign Het
Klhl35 A T 7: 99,122,129 (GRCm39) S77C probably damaging Het
Ktn1 T G 14: 47,941,694 (GRCm39) V822G probably benign Het
Lbhd2 G T 12: 111,375,040 (GRCm39) G21W probably damaging Het
Lrp1b G A 2: 40,615,457 (GRCm39) R3649* probably null Het
Map2 C A 1: 66,453,312 (GRCm39) T734N probably damaging Het
Mas1 A G 17: 13,060,839 (GRCm39) F195L possibly damaging Het
Med1 A T 11: 98,080,009 (GRCm39) M44K possibly damaging Het
Morc3 T C 16: 93,667,482 (GRCm39) V620A probably benign Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Naip2 C T 13: 100,291,459 (GRCm39) D1160N probably benign Het
Nucb2 T A 7: 116,125,631 (GRCm39) I159N probably damaging Het
Olfm5 A G 7: 103,802,984 (GRCm39) L493P probably benign Het
Or1e1 T G 11: 73,244,797 (GRCm39) F73V probably damaging Het
Or2ag15 A T 7: 106,340,759 (GRCm39) C127* probably null Het
Or56b1 C T 7: 104,285,291 (GRCm39) R137C probably benign Het
Pcdhb22 T A 18: 37,651,813 (GRCm39) C94S probably damaging Het
Plcb2 G A 2: 118,547,878 (GRCm39) T472M possibly damaging Het
Plcb4 A G 2: 135,849,795 (GRCm39) E1142G possibly damaging Het
Pmm1 C T 15: 81,839,896 (GRCm39) R143H probably damaging Het
Polr2l T C 7: 141,053,285 (GRCm39) Y43C probably damaging Het
Prkcb T A 7: 122,127,771 (GRCm39) N298K probably benign Het
Ptar1 T A 19: 23,695,414 (GRCm39) C294S probably benign Het
Ptprq T C 10: 107,401,736 (GRCm39) I1919V Het
Slc25a18 C T 6: 120,769,022 (GRCm39) R180C probably benign Het
Slc27a3 A C 3: 90,295,768 (GRCm39) S285R probably damaging Het
Smg1 C T 7: 117,783,032 (GRCm39) V1092I unknown Het
Spata19 T G 9: 27,309,024 (GRCm39) I54R possibly damaging Het
St6galnac5 T C 3: 152,551,956 (GRCm39) T204A probably benign Het
Tdpoz8 T A 3: 92,981,341 (GRCm39) C46S probably benign Het
Trpc3 T C 3: 36,694,831 (GRCm39) I708V probably benign Het
Ttn T C 2: 76,775,183 (GRCm39) E1999G unknown Het
Ube3b C T 5: 114,542,607 (GRCm39) T488M probably damaging Het
Vmn1r235 A T 17: 21,482,271 (GRCm39) I199F probably benign Het
Vsig8 A T 1: 172,388,340 (GRCm39) N215Y possibly damaging Het
Wapl A G 14: 34,399,417 (GRCm39) K162R possibly damaging Het
Wdpcp A G 11: 21,614,014 (GRCm39) T60A probably benign Het
Wdr26 A T 1: 181,010,351 (GRCm39) I566N probably damaging Het
Wdr46 C T 17: 34,163,555 (GRCm39) T371M probably benign Het
Zdbf2 T C 1: 63,344,923 (GRCm39) S1101P possibly damaging Het
Other mutations in Pcdhga5
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4581001:Pcdhga5 UTSW 18 37,829,910 (GRCm39) missense probably benign 0.01
R3775:Pcdhga5 UTSW 18 37,828,167 (GRCm39) missense possibly damaging 0.89
R4232:Pcdhga5 UTSW 18 37,829,001 (GRCm39) missense possibly damaging 0.54
R4234:Pcdhga5 UTSW 18 37,829,001 (GRCm39) missense possibly damaging 0.54
R4235:Pcdhga5 UTSW 18 37,829,001 (GRCm39) missense possibly damaging 0.54
R4815:Pcdhga5 UTSW 18 37,828,247 (GRCm39) missense probably damaging 0.99
R4884:Pcdhga5 UTSW 18 37,827,680 (GRCm39) missense probably damaging 0.99
R5159:Pcdhga5 UTSW 18 37,828,719 (GRCm39) missense probably benign 0.24
R5279:Pcdhga5 UTSW 18 37,827,774 (GRCm39) missense probably benign 0.12
R5393:Pcdhga5 UTSW 18 37,829,720 (GRCm39) missense probably benign 0.25
R6271:Pcdhga5 UTSW 18 37,829,735 (GRCm39) missense probably benign 0.01
R6574:Pcdhga5 UTSW 18 37,828,434 (GRCm39) missense probably damaging 1.00
R7727:Pcdhga5 UTSW 18 37,828,098 (GRCm39) missense probably benign 0.41
R7747:Pcdhga5 UTSW 18 37,829,835 (GRCm39) missense possibly damaging 0.69
R7775:Pcdhga5 UTSW 18 37,828,578 (GRCm39) missense probably damaging 1.00
R7778:Pcdhga5 UTSW 18 37,828,578 (GRCm39) missense probably damaging 1.00
R7819:Pcdhga5 UTSW 18 37,829,633 (GRCm39) missense probably damaging 1.00
R8745:Pcdhga5 UTSW 18 37,828,974 (GRCm39) missense possibly damaging 0.86
R8773:Pcdhga5 UTSW 18 37,829,823 (GRCm39) missense probably benign 0.07
R8780:Pcdhga5 UTSW 18 37,828,826 (GRCm39) missense probably benign 0.00
R8783:Pcdhga5 UTSW 18 37,828,596 (GRCm39) missense probably benign 0.00
R9150:Pcdhga5 UTSW 18 37,827,933 (GRCm39) missense probably damaging 1.00
Z1177:Pcdhga5 UTSW 18 37,828,587 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGAATGCCTGGTTGTCCTAC -3'
(R):5'- CCAATCTGCCTGTGGAAGTC -3'

Sequencing Primer
(F):5'- GTCCTACCGCCTGCTCAAG -3'
(R):5'- CAATCTGCCTGTGGAAGTCTGAAG -3'
Posted On 2022-02-07