Incidental Mutation 'R8780:Pcdhga5'
ID 670224
Institutional Source Beutler Lab
Gene Symbol Pcdhga5
Ensembl Gene ENSMUSG00000103567
Gene Name protocadherin gamma subfamily A, 5
Synonyms
MMRRC Submission 068604-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R8780 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37827433-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 37828826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 425 (V425I)
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: V425I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567
AA Change: V425I

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (38/38)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace3 A G 11: 105,888,364 (GRCm39) D358G probably damaging Het
Actmap T C 7: 26,900,503 (GRCm39) S161P probably benign Het
Adgrd1 G A 5: 129,174,138 (GRCm39) probably benign Het
Aff4 C A 11: 53,271,444 (GRCm39) T327K probably damaging Het
Ajap1 A G 4: 153,470,961 (GRCm39) V282A probably damaging Het
Arrb1 A G 7: 99,240,568 (GRCm39) D194G probably benign Het
Atp1a3 T C 7: 24,680,979 (GRCm39) N836S probably damaging Het
C1ql3 A G 2: 13,015,567 (GRCm39) V31A probably benign Het
Cc2d2a A G 5: 43,896,692 (GRCm39) T1530A probably damaging Het
Cenpc1 A T 5: 86,164,209 (GRCm39) I804K probably damaging Het
Chmp2b G A 16: 65,359,422 (GRCm39) probably benign Het
Chrm5 T A 2: 112,310,453 (GRCm39) E221V possibly damaging Het
Col22a1 A T 15: 71,878,796 (GRCm39) H120Q probably damaging Het
Esp16 C T 17: 39,850,729 (GRCm39) A36V probably damaging Het
Fn1 A T 1: 71,682,308 (GRCm39) S283T probably benign Het
Hipk3 A G 2: 104,264,179 (GRCm39) L773S probably damaging Het
Lcor C T 19: 41,573,698 (GRCm39) R818W probably damaging Het
Morn3 A G 5: 123,175,825 (GRCm39) W188R probably damaging Het
Msantd2 T G 9: 37,434,798 (GRCm39) L547R probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Obi1 A T 14: 104,717,082 (GRCm39) C430* probably null Het
Or4a15 A T 2: 89,193,652 (GRCm39) N40K probably damaging Het
Or7e166 T C 9: 19,624,653 (GRCm39) F177L possibly damaging Het
Pdxk T A 10: 78,283,786 (GRCm39) Y136F probably benign Het
Prr14 T C 7: 127,075,410 (GRCm39) F503L probably benign Het
Prss54 T C 8: 96,286,057 (GRCm39) I339V probably benign Het
Repin1 T C 6: 48,574,073 (GRCm39) I334T probably damaging Het
Runx3 A G 4: 134,882,720 (GRCm39) D152G probably damaging Het
She T A 3: 89,739,256 (GRCm39) I149N probably damaging Het
Stra6 A G 9: 58,042,254 (GRCm39) probably benign Het
Svil A G 18: 5,063,449 (GRCm39) T907A probably benign Het
Syvn1 A G 19: 6,100,393 (GRCm39) D288G probably damaging Het
Tacc1 T C 8: 25,672,077 (GRCm39) S384G probably benign Het
Tmc8 ACTTCCT ACT 11: 117,681,558 (GRCm39) probably null Het
Trhr T C 15: 44,061,149 (GRCm39) I223T possibly damaging Het
Vmn2r45 A G 7: 8,484,371 (GRCm39) I478T possibly damaging Het
Zbtb3 G T 19: 8,781,173 (GRCm39) R262M possibly damaging Het
Zfp516 T C 18: 83,006,080 (GRCm39) S995P probably benign Het
Zfp985 A G 4: 147,668,412 (GRCm39) I427V 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
R8783:Pcdhga5 UTSW 18 37,828,596 (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'- TACCCGGAACCATAATTGCG -3'
(R):5'- ATTTTCAGCCAGGGAGTAAGTG -3'

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