Incidental Mutation 'R7935:Pcdhga7'
ID 648710
Institutional Source Beutler Lab
Gene Symbol Pcdhga7
Ensembl Gene ENSMUSG00000103472
Gene Name protocadherin gamma subfamily A, 7
Synonyms
MMRRC Submission 045981-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R7935 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37847887-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37849562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 523 (D523G)
Ref Sequence ENSEMBL: ENSMUSP00000141704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073447] [ENSMUST00000115661] [ENSMUST00000192511] [ENSMUST00000192931] [ENSMUST00000193414] [ENSMUST00000193476] [ENSMUST00000193869] [ENSMUST00000194190] [ENSMUST00000194418] [ENSMUST00000194544] [ENSMUST00000195112] [ENSMUST00000195363] [ENSMUST00000195823]
AlphaFold Q6DD96
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 possibly damaging
Transcript: ENSMUST00000192511
AA Change: D523G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472
AA Change: D523G

DomainStartEndE-ValueType
CA 47 133 1.57e-2 SMART
CA 157 242 3.24e-19 SMART
CA 266 347 3.21e-23 SMART
CA 371 452 9.08e-23 SMART
CA 476 562 1.32e-24 SMART
CA 593 671 3.5e-15 SMART
transmembrane domain 694 716 N/A INTRINSIC
low complexity region 916 935 N/A INTRINSIC
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
SMART Domains Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567

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 damaging
Transcript: ENSMUST00000193476
AA Change: D523G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142126
Gene: ENSMUSG00000103472
AA Change: D523G

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
CA 47 133 7.6e-5 SMART
CA 157 242 1.6e-21 SMART
CA 266 347 1.6e-25 SMART
CA 371 452 4.5e-25 SMART
CA 476 562 6.6e-27 SMART
CA 593 671 1.7e-17 SMART
transmembrane domain 694 716 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
Predicted Effect probably benign
Transcript: ENSMUST00000195363
SMART Domains Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585

DomainStartEndE-ValueType
low complexity region 17 25 N/A INTRINSIC
CA 56 131 1.47e-2 SMART
CA 155 240 1.23e-19 SMART
CA 264 343 5.54e-27 SMART
CA 367 448 5.09e-26 SMART
CA 472 558 1.98e-23 SMART
CA 589 670 1.3e-9 SMART
transmembrane domain 689 711 N/A INTRINSIC
low complexity region 893 912 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195823
SMART Domains Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793

DomainStartEndE-ValueType
low complexity region 13 24 N/A INTRINSIC
CA 45 131 2.41e-2 SMART
CA 155 240 5.77e-16 SMART
CA 264 345 1.1e-21 SMART
CA 369 450 2.75e-22 SMART
low complexity region 453 462 N/A INTRINSIC
CA 474 560 9.22e-24 SMART
CA 591 669 2.4e-13 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 913 932 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A G 9: 4,308,732 (GRCm39) V124A probably benign Het
Abca4 A G 3: 121,904,186 (GRCm39) M746V possibly damaging Het
Aldh18a1 G T 19: 40,562,226 (GRCm39) S266* probably null Het
Aldh1b1 C A 4: 45,802,968 (GRCm39) H169N probably benign Het
Anpep A G 7: 79,476,709 (GRCm39) I756T possibly damaging Het
Asb16 A T 11: 102,168,739 (GRCm39) E405V probably benign Het
B4galnt1 T A 10: 127,007,490 (GRCm39) F464I probably damaging Het
Bpifb5 A G 2: 154,070,975 (GRCm39) I225V probably benign Het
Brox T C 1: 183,062,484 (GRCm39) E290G probably damaging Het
Cacna1s T A 1: 136,020,333 (GRCm39) V790D possibly damaging Het
Cacng6 G T 7: 3,473,384 (GRCm39) K69N possibly damaging Het
Catsperg1 A G 7: 28,895,344 (GRCm39) I503T possibly damaging Het
Cdcp3 A G 7: 130,852,205 (GRCm39) N814D probably damaging Het
Celsr3 A C 9: 108,706,840 (GRCm39) M1108L probably benign Het
Chd2 T C 7: 73,149,373 (GRCm39) N449S probably benign Het
Cpne6 T C 14: 55,750,066 (GRCm39) C66R possibly damaging Het
Ctnna2 T C 6: 76,919,270 (GRCm39) E656G probably damaging Het
Dnah17 A T 11: 118,018,048 (GRCm39) M149K probably benign Het
Dpp8 A T 9: 64,944,262 (GRCm39) M10L possibly damaging Het
Dst T C 1: 34,329,486 (GRCm39) L4838P probably damaging Het
Eif4g3 T A 4: 137,824,082 (GRCm39) I55N probably damaging Het
Gm10750 A G 2: 148,858,017 (GRCm39) L78P unknown Het
Gulo T G 14: 66,237,288 (GRCm39) K200Q probably benign Het
Jmjd8 T A 17: 26,048,071 (GRCm39) L56Q probably benign Het
Kansl1 G T 11: 104,315,112 (GRCm39) Q309K probably damaging Het
Kcns3 A C 12: 11,141,718 (GRCm39) L327R probably damaging Het
Mapk10 A G 5: 103,139,792 (GRCm39) I153T possibly damaging Het
Muc5b G T 7: 141,400,569 (GRCm39) M513I unknown Het
Nbea A G 3: 55,966,086 (GRCm39) F459L probably damaging Het
Nrcam G A 12: 44,631,644 (GRCm39) V1066I possibly damaging Het
Numa1 A G 7: 101,651,538 (GRCm39) K178E probably damaging Het
Or4b1 C T 2: 89,979,928 (GRCm39) V141M probably benign Het
Or5au1 T C 14: 52,272,645 (GRCm39) K308E probably benign Het
Or5d14 G A 2: 87,880,290 (GRCm39) T226M probably damaging Het
Pabpc4 C T 4: 123,191,837 (GRCm39) A649V probably benign Het
Parp12 C A 6: 39,079,612 (GRCm39) K299N possibly damaging Het
Polr2a T C 11: 69,638,330 (GRCm39) T79A probably benign Het
Ppp1r7 T C 1: 93,273,904 (GRCm39) S27P probably damaging Het
Pramel42 G T 5: 94,685,440 (GRCm39) D367Y probably damaging Het
Prol1 T G 5: 88,475,874 (GRCm39) L88R probably damaging Het
Ptpn6 T C 6: 124,709,425 (GRCm39) Q57R possibly damaging Het
Rdh16 A G 10: 127,637,334 (GRCm39) I90V probably benign Het
Rock2 T A 12: 16,998,558 (GRCm39) C275S probably damaging Het
Rp1l1 G T 14: 64,268,674 (GRCm39) R1420L probably damaging Het
Sav1 A G 12: 70,033,481 (GRCm39) Y21H probably damaging Het
Sec24a T C 11: 51,612,749 (GRCm39) N536S probably benign Het
Serpina9 A C 12: 103,964,421 (GRCm39) F339V probably damaging Het
Slc6a13 T G 6: 121,311,450 (GRCm39) L369V possibly damaging Het
Smarcd3 A T 5: 24,801,024 (GRCm39) F128I probably damaging Het
Smok2a A T 17: 13,444,599 (GRCm39) I59F probably damaging Het
Spaca9 A G 2: 28,583,634 (GRCm39) probably null Het
Ssx2ip A T 3: 146,124,928 (GRCm39) E84D probably benign Het
Syt12 A T 19: 4,497,830 (GRCm39) V384E probably benign Het
Ticrr T A 7: 79,331,584 (GRCm39) L727Q probably damaging Het
Tmem170b A G 13: 41,781,463 (GRCm39) Y36C probably damaging Het
Tpd52l1 T C 10: 31,214,201 (GRCm39) T161A probably damaging Het
Zan T A 5: 137,461,841 (GRCm39) T1113S unknown Het
Zfp512b T C 2: 181,231,689 (GRCm39) T164A probably damaging Het
Zfp521 G A 18: 13,977,549 (GRCm39) P955S probably damaging Het
Zfp770 C T 2: 114,027,305 (GRCm39) V255I probably benign Het
Zfp942 A T 17: 22,148,208 (GRCm39) C140* probably null Het
Other mutations in Pcdhga7
AlleleSourceChrCoordTypePredicted EffectPPH Score
micro UTSW 18 37,850,327 (GRCm39) missense probably benign 0.04
milli UTSW 18 37,849,483 (GRCm39) missense probably benign 0.27
R3012:Pcdhga7 UTSW 18 37,848,691 (GRCm39) missense probably benign 0.01
R3950:Pcdhga7 UTSW 18 37,849,568 (GRCm39) missense probably damaging 1.00
R4697:Pcdhga7 UTSW 18 37,850,261 (GRCm39) missense probably damaging 1.00
R4985:Pcdhga7 UTSW 18 37,848,698 (GRCm39) missense probably benign 0.02
R5073:Pcdhga7 UTSW 18 37,849,025 (GRCm39) missense probably damaging 1.00
R5137:Pcdhga7 UTSW 18 37,850,433 (GRCm39) missense probably damaging 0.99
R5424:Pcdhga7 UTSW 18 37,848,388 (GRCm39) missense probably benign 0.07
R5534:Pcdhga7 UTSW 18 37,849,331 (GRCm39) missense probably damaging 1.00
R5619:Pcdhga7 UTSW 18 37,848,800 (GRCm39) missense probably benign 0.00
R5689:Pcdhga7 UTSW 18 37,849,736 (GRCm39) missense probably damaging 1.00
R6200:Pcdhga7 UTSW 18 37,849,135 (GRCm39) missense probably damaging 0.99
R6235:Pcdhga7 UTSW 18 37,849,483 (GRCm39) missense probably benign 0.27
R6597:Pcdhga7 UTSW 18 37,850,059 (GRCm39) missense probably benign 0.24
R6684:Pcdhga7 UTSW 18 37,849,103 (GRCm39) missense probably damaging 1.00
R6714:Pcdhga7 UTSW 18 37,850,330 (GRCm39) missense probably benign 0.00
R6810:Pcdhga7 UTSW 18 37,848,926 (GRCm39) missense probably benign 0.24
R6920:Pcdhga7 UTSW 18 37,848,199 (GRCm39) missense probably benign 0.00
R6922:Pcdhga7 UTSW 18 37,848,710 (GRCm39) missense probably damaging 0.99
R7051:Pcdhga7 UTSW 18 37,849,994 (GRCm39) missense probably damaging 1.00
R7072:Pcdhga7 UTSW 18 37,850,329 (GRCm39) missense probably benign 0.01
R7265:Pcdhga7 UTSW 18 37,849,969 (GRCm39) missense probably damaging 1.00
R7397:Pcdhga7 UTSW 18 37,850,327 (GRCm39) missense probably benign 0.04
R7450:Pcdhga7 UTSW 18 37,849,079 (GRCm39) missense probably benign 0.27
R7451:Pcdhga7 UTSW 18 37,849,057 (GRCm39) missense possibly damaging 0.67
R7790:Pcdhga7 UTSW 18 37,847,996 (GRCm39) start codon destroyed probably null 0.85
R7833:Pcdhga7 UTSW 18 37,849,077 (GRCm39) missense possibly damaging 0.52
R7922:Pcdhga7 UTSW 18 37,849,226 (GRCm39) missense probably benign 0.00
R8007:Pcdhga7 UTSW 18 37,849,946 (GRCm39) missense probably benign 0.06
R8073:Pcdhga7 UTSW 18 37,848,398 (GRCm39) missense probably damaging 1.00
R8724:Pcdhga7 UTSW 18 37,848,146 (GRCm39) missense probably benign 0.02
R8962:Pcdhga7 UTSW 18 37,848,879 (GRCm39) missense probably benign 0.01
R9191:Pcdhga7 UTSW 18 37,848,932 (GRCm39) missense probably benign 0.00
R9684:Pcdhga7 UTSW 18 37,848,667 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TACGTCCCGGAGAACAATCC -3'
(R):5'- GAGTCTTTGTCCACAGCTACC -3'

Sequencing Primer
(F):5'- CCAGAGGAGCCTCCATCTTC -3'
(R):5'- CACTAGGTATCCAGGTTCTGCAGAG -3'
Posted On 2020-09-15