Incidental Mutation 'R8783:Pcdhga5'
ID 670445
Institutional Source Beutler Lab
Gene Symbol Pcdhga5
Ensembl Gene ENSMUSG00000103567
Gene Name protocadherin gamma subfamily A, 5
Synonyms
MMRRC Submission 068631-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R8783 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37827433-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37828596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 348 (I348T)
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: I348T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567
AA Change: I348T

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: 99.3%
Validation Efficiency 100% (75/75)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik T A 13: 54,700,520 (GRCm39) M273L probably benign Het
Aars1 A G 8: 111,776,515 (GRCm39) N657S probably benign Het
Ahnak A T 19: 8,988,837 (GRCm39) N3374Y probably damaging Het
Ank2 T C 3: 126,846,455 (GRCm39) E180G probably damaging Het
Arhgap20 T A 9: 51,727,967 (GRCm39) probably benign Het
Armc5 G A 7: 127,837,425 (GRCm39) A43T probably damaging Het
Atad3a T A 4: 155,840,152 (GRCm39) D142V probably damaging Het
B4galnt4 A T 7: 140,643,759 (GRCm39) K54M probably damaging Het
Bcl11b T C 12: 107,883,562 (GRCm39) E251G probably damaging Het
Bptf A G 11: 107,022,357 (GRCm39) V131A unknown Het
Btbd7 T A 12: 102,754,501 (GRCm39) H755L probably benign Het
Cadps2 A G 6: 23,302,303 (GRCm39) V1128A possibly damaging Het
Ccl2 T C 11: 81,927,360 (GRCm39) I43T probably damaging Het
Cdc25b T G 2: 131,033,772 (GRCm39) S207A probably benign Het
Chd4 A G 6: 125,100,347 (GRCm39) T1725A possibly damaging Het
Cmya5 A T 13: 93,225,888 (GRCm39) S3067T possibly damaging Het
Col9a3 G A 2: 180,255,970 (GRCm39) D448N probably damaging Het
Cpxm1 C A 2: 130,237,643 (GRCm39) R187S probably benign Het
Cramp1 T A 17: 25,193,732 (GRCm39) N916I probably damaging Het
Creld1 A G 6: 113,468,686 (GRCm39) Y269C probably damaging Het
Ctsz G T 2: 174,280,675 (GRCm39) S6* probably null Het
Cul7 T C 17: 46,966,575 (GRCm39) S633P probably benign Het
Eci2 T A 13: 35,174,180 (GRCm39) N160I probably damaging Het
Eef2 T A 10: 81,015,499 (GRCm39) M340K probably damaging Het
Enpp6 A T 8: 47,440,220 (GRCm39) Y72F possibly damaging Het
Erbb4 A C 1: 68,079,331 (GRCm39) Y1250D possibly damaging Het
Fhad1 C T 4: 141,636,403 (GRCm39) V1146M probably benign Het
Fryl T C 5: 73,226,185 (GRCm39) Y1826C probably benign Het
Gm3252 A G 14: 4,743,761 (GRCm38) K200E probably benign Het
Gramd1a T C 7: 30,832,220 (GRCm39) T640A possibly damaging Het
Gse1 A T 8: 121,303,117 (GRCm39) Q1086L unknown Het
Gtf2f2 C A 14: 76,245,164 (GRCm39) G41W probably damaging Het
Hhat A G 1: 192,196,245 (GRCm39) Y483H probably damaging Het
Ifna13 T A 4: 88,562,526 (GRCm39) R33W probably damaging Het
Ighg2c T A 12: 113,252,412 (GRCm39) S47C Het
Ing5 A T 1: 93,740,154 (GRCm39) D101V probably damaging Het
Kif23 T C 9: 61,834,853 (GRCm39) T379A probably benign Het
Ltn1 A T 16: 87,207,247 (GRCm39) S898T probably benign Het
Mep1a T C 17: 43,789,081 (GRCm39) D578G probably benign Het
Mgam A T 6: 40,633,423 (GRCm39) H243L probably damaging Het
Mlf1 G A 3: 67,291,997 (GRCm39) R54H probably benign Het
Mtus2 A T 5: 148,019,861 (GRCm39) K752M probably damaging Het
Muc21 T C 17: 35,930,875 (GRCm39) T1104A unknown Het
Mup18 T A 4: 61,591,767 (GRCm39) D53V probably benign Het
Neb A T 2: 52,148,644 (GRCm39) D2634E probably damaging Het
Nfatc3 A T 8: 106,825,784 (GRCm39) I620F possibly damaging Het
Nrg1 A T 8: 32,448,629 (GRCm39) L104Q probably benign Het
Nsd2 T A 5: 34,036,455 (GRCm39) D646E possibly damaging Het
Or10w1 A T 19: 13,632,323 (GRCm39) R177W probably damaging Het
Or4p19 T C 2: 88,242,951 (GRCm39) N17S probably benign Het
Or51ai2 A T 7: 103,586,751 (GRCm39) T55S possibly damaging Het
Pbp2 T C 6: 135,287,330 (GRCm39) S6G probably benign Het
Pdxk A G 10: 78,287,339 (GRCm39) V74A probably benign Het
Pdzrn3 C T 6: 101,132,841 (GRCm39) R469H probably damaging Het
Pla2g4a A T 1: 149,740,741 (GRCm39) S395R probably damaging Het
Polr2i A G 7: 29,931,790 (GRCm39) Y7C possibly damaging Het
Psmc5 A T 11: 106,153,858 (GRCm39) K397N possibly damaging Het
Ptprz1 A G 6: 23,002,026 (GRCm39) D1372G probably benign Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Rapgef2 A T 3: 79,005,651 (GRCm39) V181E probably damaging Het
Rassf3 T G 10: 121,253,069 (GRCm39) N46T probably benign Het
Rnf123 T C 9: 107,946,272 (GRCm39) E301G probably benign Het
Sec24b T A 3: 129,783,342 (GRCm39) M1099L probably benign Het
Shisa4 A G 1: 135,300,944 (GRCm39) C109R probably damaging Het
Slc7a1 T A 5: 148,279,643 (GRCm39) E237V probably benign Het
Syna C T 5: 134,588,723 (GRCm39) M75I probably benign Het
Tas2r105 A G 6: 131,663,732 (GRCm39) I232T possibly damaging Het
Tas2r136 T C 6: 132,754,612 (GRCm39) T172A probably benign Het
Tdpoz8 A G 3: 92,981,780 (GRCm39) Y192C probably damaging Het
Trim6 G A 7: 103,874,853 (GRCm39) C30Y probably damaging Het
Trim65 T A 11: 116,017,143 (GRCm39) N440Y probably damaging Het
Ttn A C 2: 76,573,694 (GRCm39) I25733S probably damaging Het
Ttn T G 2: 76,619,358 (GRCm39) T16035P probably damaging Het
Vmn2r73 A T 7: 85,507,668 (GRCm39) M548K probably damaging Het
Vmn2r88 A T 14: 51,651,523 (GRCm39) E279V Het
Wfdc8 G A 2: 164,447,769 (GRCm39) S97F probably benign Het
Wrn G A 8: 33,826,041 (GRCm39) A207V probably null Het
Xrcc2 T C 5: 25,897,217 (GRCm39) D244G possibly damaging Het
Zfp251 C T 15: 76,737,413 (GRCm39) G560E probably 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
R9072:Pcdhga5 UTSW 18 37,829,537 (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'- TCTTTCCGCAACGAAGAAGAC -3'
(R):5'- GTCAACAACGGTCACTGTGATG -3'

Sequencing Primer
(F):5'- CGCAACGAAGAAGACAAAATTTCTG -3'
(R):5'- ACGGTCACTGTGATGTTATAATCTG -3'
Posted On 2021-04-30