Incidental Mutation 'R8773:Pcdhga5'
ID 664571
Institutional Source Beutler Lab
Gene Symbol Pcdhga5
Ensembl Gene ENSMUSG00000103567
Gene Name protocadherin gamma subfamily A, 5
Synonyms
MMRRC Submission 068627-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R8773 (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 37829823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 757 (I757T)
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: I757T

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567
AA Change: I757T

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: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (63/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A T 2: 151,314,062 (GRCm39) S539T possibly damaging Het
Abcc6 C T 7: 45,634,569 (GRCm39) R1136Q probably benign Het
Abhd12b A C 12: 70,213,708 (GRCm39) probably null Het
Agk T G 6: 40,334,050 (GRCm39) V98G possibly damaging Het
Apbb2 A G 5: 66,609,252 (GRCm39) S132P probably damaging Het
Apc2 T C 10: 80,142,046 (GRCm39) S322P probably damaging Het
Armc3 T C 2: 19,293,667 (GRCm39) V486A probably benign Het
Asxl2 A G 12: 3,507,200 (GRCm39) K131E probably damaging Het
Atp13a4 A G 16: 29,260,398 (GRCm39) V560A Het
Bnc1 C T 7: 81,623,719 (GRCm39) G503S probably damaging Het
Bsn C A 9: 107,987,704 (GRCm39) V2683F unknown Het
Btbd7 A T 12: 102,804,241 (GRCm39) N266K probably benign Het
Ccdc121rt2 T C 5: 112,597,681 (GRCm39) V76A probably benign Het
Cdca7l G A 12: 117,839,346 (GRCm39) D350N possibly damaging Het
Cfap251 A G 5: 123,411,913 (GRCm39) D515G probably benign Het
Ciao2a A T 9: 66,045,667 (GRCm39) N145I probably damaging Het
Col6a3 T A 1: 90,696,171 (GRCm39) D3239V unknown Het
Col9a1 T A 1: 24,224,208 (GRCm39) I130N unknown Het
Cr2 A G 1: 194,840,913 (GRCm39) W460R probably damaging Het
Cyb561d2 A G 9: 107,417,583 (GRCm39) F56S probably damaging Het
Dnaaf1 A G 8: 120,302,194 (GRCm39) I32V probably benign Het
Dnah11 T A 12: 117,958,950 (GRCm39) T2978S possibly damaging Het
Dsg2 T A 18: 20,716,056 (GRCm39) D302E probably damaging Het
Faf1 T A 4: 109,699,507 (GRCm39) F351I possibly damaging Het
Gimap8 C A 6: 48,633,545 (GRCm39) Q455K probably benign Het
Hps6 C G 19: 45,994,141 (GRCm39) R693G possibly damaging Het
Irx1 C T 13: 72,107,635 (GRCm39) G349D probably damaging Het
Itga8 C G 2: 12,187,495 (GRCm39) G728A probably damaging Het
Lcat T C 8: 106,666,710 (GRCm39) T271A possibly damaging Het
Mapkapk2 T C 1: 130,983,679 (GRCm39) H308R probably damaging Het
Mast1 A T 8: 85,642,953 (GRCm39) N947K probably damaging Het
Mpeg1 A T 19: 12,440,419 (GRCm39) I626F probably damaging Het
Mrtfa T C 15: 80,902,274 (GRCm39) S349G possibly damaging Het
Myh15 T C 16: 49,015,900 (GRCm39) S1859P possibly damaging Het
Nlrx1 A T 9: 44,167,712 (GRCm39) D728E probably benign Het
Or1j8 A G 2: 36,192,387 (GRCm39) T279A probably benign Het
Or8c19-ps1 G T 9: 38,220,516 (GRCm39) V142F probably benign Het
Pcdhb18 A T 18: 37,624,562 (GRCm39) S631C probably damaging Het
Pcdhga11 C A 18: 37,890,364 (GRCm39) Y457* probably null Het
Pcgf5 G A 19: 36,389,348 (GRCm39) probably benign Het
Pdf A G 8: 107,775,100 (GRCm39) V44A possibly damaging Het
Pip4p1 T C 14: 51,166,503 (GRCm39) T194A possibly damaging Het
Prtg A T 9: 72,819,583 (GRCm39) *1192L probably null Het
Ptk7 A G 17: 46,877,193 (GRCm39) F955S possibly damaging Het
Rbp3 C A 14: 33,684,492 (GRCm39) Q1174K possibly damaging Het
Rufy1 T C 11: 50,321,796 (GRCm39) D46G possibly damaging Het
Sbf2 A G 7: 109,948,202 (GRCm39) V1216A probably benign Het
Serpina11 A G 12: 103,952,722 (GRCm39) V18A unknown Het
Serpinb6a T A 13: 34,115,543 (GRCm39) N47I probably damaging Het
Shc2 T C 10: 79,456,924 (GRCm39) H564R probably damaging Het
Sirt7 T A 11: 120,514,888 (GRCm39) R115* probably null Het
Slc22a14 A T 9: 119,059,290 (GRCm39) probably benign Het
Stra8 T A 6: 34,912,581 (GRCm39) S331T probably damaging Het
Tm9sf2 A G 14: 122,380,883 (GRCm39) T324A probably benign Het
Tmem268 T C 4: 63,498,530 (GRCm39) S224P probably benign Het
Tns1 T C 1: 73,976,407 (GRCm39) D1147G probably damaging Het
Tomm22 C T 15: 79,555,311 (GRCm39) probably benign Het
Top1 A G 2: 160,556,158 (GRCm39) Y539C probably damaging Het
Tpp2 T A 1: 44,009,552 (GRCm39) probably benign Het
Trav3-1 T C 14: 52,818,428 (GRCm39) V34A probably damaging Het
Tspyl5 T C 15: 33,687,238 (GRCm39) N236D possibly damaging Het
Ttc41 A G 10: 86,565,679 (GRCm39) D411G probably benign Het
Vmn1r128 A T 7: 21,083,922 (GRCm39) M209L probably benign Het
Xirp2 T A 2: 67,355,527 (GRCm39) D3429E probably benign Het
Zfp418 A T 7: 7,185,797 (GRCm39) T587S probably benign 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
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
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'- ACTGACTGACTTAGGCAACCAC -3'
(R):5'- CTTAGTGAAAGAGAAAACTGACCTG -3'

Sequencing Primer
(F):5'- CACTCTACCTAGTGGTTTCGGTG -3'
(R):5'- AACTGACCTGAGCATCTCCGG -3'
Posted On 2021-03-08