Incidental Mutation 'R9767:Pcdhga3'
ID 733353
Institutional Source Beutler Lab
Gene Symbol Pcdhga3
Ensembl Gene ENSMUSG00000104346
Gene Name protocadherin gamma subfamily A, 3
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R9767 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37807388-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37808096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 183 (I183N)
Ref Sequence ENSEMBL: ENSMUSP00000073150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073447] [ENSMUST00000115661] [ENSMUST00000193869] [ENSMUST00000194190] [ENSMUST00000194544]
AlphaFold Q91XY5
Predicted Effect probably benign
Transcript: ENSMUST00000073447
AA Change: I183N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346
AA Change: I183N

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: 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: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.4%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 A T 3: 151,207,394 (GRCm39) M314L probably benign Het
Ank3 T C 10: 69,823,799 (GRCm39) S41P probably damaging Het
Aox4 A C 1: 58,274,357 (GRCm39) N381T probably benign Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Bpifb6 G A 2: 153,751,148 (GRCm39) probably null Het
Cep350 A G 1: 155,739,018 (GRCm39) V2275A probably benign Het
Cntn4 G A 6: 106,655,395 (GRCm39) G831E probably benign Het
D6Ertd527e G C 6: 87,088,839 (GRCm39) S334T unknown Het
Dchs2 A G 3: 83,212,206 (GRCm39) I2002V probably benign Het
Dennd2a G A 6: 39,483,709 (GRCm39) R384C probably damaging Het
Dock1 A G 7: 134,342,796 (GRCm39) T136A possibly damaging Het
Eif2s2 A T 2: 154,730,125 (GRCm39) D57E probably benign Het
Eml2 C T 7: 18,920,083 (GRCm39) T129I probably benign Het
Flad1 A C 3: 89,310,718 (GRCm39) I443S probably benign Het
Glis1 A T 4: 107,491,794 (GRCm39) T741S probably benign Het
Gpr156 A G 16: 37,818,297 (GRCm39) Y331C probably damaging Het
Lrwd1 C T 5: 136,162,856 (GRCm39) V122M possibly damaging Het
Ndufs2 G T 1: 171,068,643 (GRCm39) P89Q probably damaging Het
Nkx1-2 C T 7: 132,199,402 (GRCm39) V120I probably benign Het
Or2t35 C T 14: 14,407,929 (GRCm38) R234W probably damaging Het
Or7a41 T C 10: 78,870,765 (GRCm39) L45P possibly damaging Het
Pkhd1 T C 1: 20,484,636 (GRCm39) D1973G probably benign Het
Ppp1r3a A G 6: 14,718,101 (GRCm39) S938P probably benign Het
Prss27 G T 17: 24,257,283 (GRCm39) M1I probably null Het
Rai14 T C 15: 10,610,127 (GRCm39) T74A probably benign Het
Rcc2 C T 4: 140,435,331 (GRCm39) R117W probably damaging Het
Rpl31 T A 1: 39,410,189 (GRCm39) *130R probably null Het
Rplp0 T C 5: 115,699,563 (GRCm39) S213P probably benign Het
Sdcbp2 T C 2: 151,429,057 (GRCm39) I152T probably damaging Het
Senp3 T C 11: 69,569,013 (GRCm39) T383A possibly damaging Het
Sod2 C A 17: 13,227,180 (GRCm39) Q45K probably benign Het
Speg A T 1: 75,403,825 (GRCm39) I2669F possibly damaging Het
Stat4 T G 1: 52,141,653 (GRCm39) F577V probably damaging Het
Tex9 C A 9: 72,368,518 (GRCm39) E377* probably null Het
Tmprss15 A T 16: 78,875,977 (GRCm39) V119D probably damaging Het
Unc79 T C 12: 103,079,234 (GRCm39) S1800P probably benign Het
Vldlr A G 19: 27,212,274 (GRCm39) D96G probably damaging Het
Vmn2r51 G T 7: 9,839,407 (GRCm39) N60K probably benign Het
Vps13b A G 15: 35,910,403 (GRCm39) D3389G probably damaging Het
Vps13d C T 4: 144,879,306 (GRCm39) E1506K Het
Zfp1 A G 8: 112,396,203 (GRCm39) N75D probably benign Het
Other mutations in Pcdhga3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00934:Pcdhga3 APN 18 37,808,486 (GRCm39) missense possibly damaging 0.92
R2863:Pcdhga3 UTSW 18 37,807,643 (GRCm39) missense probably damaging 0.99
R4446:Pcdhga3 UTSW 18 37,808,938 (GRCm39) missense probably damaging 0.99
R4581:Pcdhga3 UTSW 18 37,809,934 (GRCm39) missense probably benign 0.00
R4747:Pcdhga3 UTSW 18 37,809,799 (GRCm39) missense probably benign 0.29
R4964:Pcdhga3 UTSW 18 37,809,154 (GRCm39) missense probably benign 0.05
R5165:Pcdhga3 UTSW 18 37,808,723 (GRCm39) missense possibly damaging 0.60
R5210:Pcdhga3 UTSW 18 37,808,963 (GRCm39) missense probably benign 0.03
R5370:Pcdhga3 UTSW 18 37,808,343 (GRCm39) missense probably damaging 1.00
R5402:Pcdhga3 UTSW 18 37,808,747 (GRCm39) missense probably benign 0.33
R5610:Pcdhga3 UTSW 18 37,808,276 (GRCm39) missense possibly damaging 0.83
R5782:Pcdhga3 UTSW 18 37,809,353 (GRCm39) missense possibly damaging 0.91
R5889:Pcdhga3 UTSW 18 37,809,662 (GRCm39) missense probably damaging 1.00
R6058:Pcdhga3 UTSW 18 37,808,141 (GRCm39) missense probably damaging 1.00
R6127:Pcdhga3 UTSW 18 37,807,757 (GRCm39) missense probably damaging 0.98
R6307:Pcdhga3 UTSW 18 37,809,674 (GRCm39) unclassified probably benign
R6893:Pcdhga3 UTSW 18 37,809,598 (GRCm39) missense probably benign 0.37
R7013:Pcdhga3 UTSW 18 37,808,674 (GRCm39) missense probably damaging 1.00
R7174:Pcdhga3 UTSW 18 37,808,980 (GRCm39) missense probably benign 0.02
R7448:Pcdhga3 UTSW 18 37,808,917 (GRCm39) missense possibly damaging 0.94
R7492:Pcdhga3 UTSW 18 37,809,178 (GRCm39) missense probably benign 0.01
R7509:Pcdhga3 UTSW 18 37,808,910 (GRCm39) nonsense probably null
R7914:Pcdhga3 UTSW 18 37,808,013 (GRCm39) missense probably benign 0.00
R7984:Pcdhga3 UTSW 18 37,809,549 (GRCm39) missense probably benign 0.00
R8782:Pcdhga3 UTSW 18 37,807,865 (GRCm39) missense probably damaging 1.00
R9157:Pcdhga3 UTSW 18 37,809,229 (GRCm39) missense probably benign 0.40
R9169:Pcdhga3 UTSW 18 37,809,088 (GRCm39) missense probably damaging 1.00
R9436:Pcdhga3 UTSW 18 37,808,144 (GRCm39) missense probably damaging 1.00
R9437:Pcdhga3 UTSW 18 37,808,144 (GRCm39) missense probably damaging 1.00
R9588:Pcdhga3 UTSW 18 37,808,564 (GRCm39) missense probably damaging 1.00
R9778:Pcdhga3 UTSW 18 37,807,786 (GRCm39) missense probably benign 0.42
Z1177:Pcdhga3 UTSW 18 37,809,674 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TTGAGGTAGAAGTTGACATTAGCG -3'
(R):5'- ACTGACATGGTACTCTGGCTTG -3'

Sequencing Primer
(F):5'- AGTTCCTGGAACCCGATT -3'
(R):5'- CATGGTACTCTGGCTTGGTAAACAC -3'
Posted On 2022-11-14