Incidental Mutation 'R4985:Pcdhga7'
ID 385857
Institutional Source Beutler Lab
Gene Symbol Pcdhga7
Ensembl Gene ENSMUSG00000103472
Gene Name protocadherin gamma subfamily A, 7
Synonyms
MMRRC Submission 042579-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R4985 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37847887-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37848698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 235 (V235A)
Ref Sequence ENSEMBL: ENSMUSP00000141704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073447] [ENSMUST00000115661] [ENSMUST00000192511] [ENSMUST00000192931] [ENSMUST00000193414] [ENSMUST00000193476] [ENSMUST00000194544] [ENSMUST00000195363] [ENSMUST00000195823] [ENSMUST00000195112] [ENSMUST00000193869] [ENSMUST00000194190] [ENSMUST00000194418]
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 probably benign
Transcript: ENSMUST00000192511
AA Change: V235A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472
AA Change: V235A

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 benign
Transcript: ENSMUST00000193476
AA Change: V235A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000142126
Gene: ENSMUSG00000103472
AA Change: V235A

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 noncoding transcript
Transcript: ENSMUST00000193815
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195069
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: 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
Predicted Effect probably benign
Transcript: ENSMUST00000193984
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: 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: 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
Meta Mutation Damage Score 0.1053 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (52/52)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921508M14Rik A T 12: 34,924,457 (GRCm39) probably benign Het
Actn4 A G 7: 28,618,411 (GRCm39) L83P probably damaging Het
Adgb T C 10: 10,276,376 (GRCm39) R331G possibly damaging Het
Bmal1 T C 7: 112,884,280 (GRCm39) V106A probably damaging Het
Brf1 G T 12: 112,932,990 (GRCm39) probably null Het
Cd248 C T 19: 5,119,820 (GRCm39) T556I probably damaging Het
Cdkn2aip G T 8: 48,166,480 (GRCm39) probably benign Het
Ces1d T C 8: 93,901,772 (GRCm39) E399G possibly damaging Het
Col9a3 G A 2: 180,245,193 (GRCm39) R134H unknown Het
Ddb2 T C 2: 91,042,643 (GRCm39) probably null Het
Dlg1 A G 16: 31,606,953 (GRCm39) probably null Het
Dnah1 T G 14: 31,008,855 (GRCm39) E1973A probably null Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
E130308A19Rik A G 4: 59,691,017 (GRCm39) T284A probably benign Het
Ecm1 C T 3: 95,643,415 (GRCm39) R295H possibly damaging Het
Efcab5 T A 11: 77,029,055 (GRCm39) H92L probably damaging Het
Egfr C A 11: 16,809,029 (GRCm39) Y74* probably null Het
Fbxo10 T C 4: 45,040,692 (GRCm39) I838V probably benign Het
Gfod2 C T 8: 106,454,643 (GRCm39) R79Q probably damaging Het
Gm11568 C A 11: 99,749,274 (GRCm39) P160T unknown Het
Gm29106 A T 1: 118,126,950 (GRCm39) D214V probably benign Het
Htr3b C A 9: 48,847,241 (GRCm39) V425F possibly damaging Het
Krt86 A T 15: 101,375,146 (GRCm39) E347V probably damaging Het
Lamc2 T C 1: 153,012,551 (GRCm39) I708V probably benign Het
Ldb2 T A 5: 44,637,645 (GRCm39) K221I probably damaging Het
Lmntd2 A C 7: 140,793,190 (GRCm39) S127R probably benign Het
Lrba A G 3: 86,234,743 (GRCm39) probably null Het
Mettl26 T A 17: 26,095,750 (GRCm39) *202R probably null Het
Mmp24 A G 2: 155,656,016 (GRCm39) K485E probably damaging Het
Nap1l1 T C 10: 111,325,944 (GRCm39) C88R probably benign Het
Or2d2 C A 7: 106,728,234 (GRCm39) R122L probably damaging Het
Or8b49 T A 9: 38,505,658 (GRCm39) I47N possibly damaging Het
Pafah1b1 T G 11: 74,576,814 (GRCm39) D159A probably damaging Het
Pcf11 T C 7: 92,311,110 (GRCm39) T293A probably benign Het
Pidd1 A C 7: 141,018,504 (GRCm39) *916E probably null Het
Pip4k2c T C 10: 127,035,244 (GRCm39) I375V probably benign Het
Pou3f2 A T 4: 22,487,588 (GRCm39) S182T probably benign Het
Rin3 A T 12: 102,334,821 (GRCm39) D164V unknown Het
Rnf8 T C 17: 29,845,834 (GRCm39) S199P possibly damaging Het
Serpina6 A G 12: 103,620,195 (GRCm39) S185P probably benign Het
Slc47a2 C A 11: 61,193,059 (GRCm39) V565L probably benign Het
Slfn4 T A 11: 83,078,033 (GRCm39) F274I probably damaging Het
Tgif1 T C 17: 71,151,867 (GRCm39) Y248C probably benign Het
Tlx1 C A 19: 45,139,421 (GRCm39) Q23K possibly damaging Het
Trpv4 T C 5: 114,760,793 (GRCm39) D846G probably benign Het
Tspyl1 G A 10: 34,158,334 (GRCm39) D20N probably benign Het
Vmn1r159 A T 7: 22,542,959 (GRCm39) F24L probably damaging Het
Vmn1r204 T A 13: 22,741,230 (GRCm39) V287D probably damaging Het
Zdhhc18 A G 4: 133,340,228 (GRCm39) probably null Het
Zfp276 T G 8: 123,994,646 (GRCm39) V571G probably damaging 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
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
R7935:Pcdhga7 UTSW 18 37,849,562 (GRCm39) missense possibly damaging 0.91
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'- TTTCTCCCTGGTTGTGCAAAG -3'
(R):5'- AGCTCATAGAAGCTGGATTGCTC -3'

Sequencing Primer
(F):5'- CCCTGGTTGTGCAAAGTGGAG -3'
(R):5'- GCTGGATTGCTCATAATCTAGACC -3'
Posted On 2016-05-10