Incidental Mutation 'R9684:Pcdhga7'
ID 728769
Institutional Source Beutler Lab
Gene Symbol Pcdhga7
Ensembl Gene ENSMUSG00000103472
Gene Name protocadherin gamma subfamily A, 7
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R9684 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37847887-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37848667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 225 (S225P)
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 probably damaging
Transcript: ENSMUST00000192511
AA Change: S225P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472
AA Change: S225P

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 possibly damaging
Transcript: ENSMUST00000193476
AA Change: S225P

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142126
Gene: ENSMUSG00000103472
AA Change: S225P

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: 99.9%
  • 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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,283,307 (GRCm39) D3243V probably damaging Het
Acot3 T C 12: 84,105,650 (GRCm39) L281P probably benign Het
Asb4 A C 6: 5,398,296 (GRCm39) H87P probably damaging Het
Ccnt1 A T 15: 98,446,566 (GRCm39) Y175N probably damaging Het
Cdh11 A G 8: 103,391,327 (GRCm39) V303A probably benign Het
Cdk19 T A 10: 40,351,594 (GRCm39) M297K probably damaging Het
Ces2c A C 8: 105,574,699 (GRCm39) D52A probably benign Het
Cox10 C T 11: 63,855,207 (GRCm39) R358H probably damaging Het
Cryzl1 A G 16: 91,487,634 (GRCm39) I302T probably benign Het
Def6 T C 17: 28,436,044 (GRCm39) Y68H probably damaging Het
Dolpp1 A G 2: 30,285,748 (GRCm39) I49V possibly damaging Het
Ehmt1 T C 2: 24,753,329 (GRCm39) D357G possibly damaging Het
Ermp1 G T 19: 29,594,106 (GRCm39) T688N probably benign Het
F830016B08Rik T C 18: 60,433,043 (GRCm39) I42T probably damaging Het
Gbp7 A G 3: 142,240,327 (GRCm39) E15G possibly damaging Het
Ghdc A G 11: 100,661,091 (GRCm39) S25P probably benign Het
Gm45861 A G 8: 28,014,601 (GRCm39) N613S unknown Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Gzmf T A 14: 56,444,444 (GRCm39) D43V probably benign Het
Hdac10 C A 15: 89,011,402 (GRCm39) D172Y probably damaging Het
Krt32 T A 11: 99,977,308 (GRCm39) R197S probably damaging Het
Lama5 T C 2: 179,849,038 (GRCm39) D215G probably damaging Het
M1ap C A 6: 82,945,094 (GRCm39) H129Q probably benign Het
Mfsd3 A G 15: 76,587,183 (GRCm39) D312G probably benign Het
Muc5ac A G 7: 141,364,798 (GRCm39) D2628G probably benign Het
Myoz3 T C 18: 60,712,026 (GRCm39) D184G possibly damaging Het
Ncor2 A G 5: 125,102,139 (GRCm39) L1217P Het
Nepn T C 10: 52,276,801 (GRCm39) V179A probably benign Het
Niban1 T A 1: 151,593,538 (GRCm39) I741N possibly damaging Het
Npr2 T C 4: 43,632,491 (GRCm39) Y103H probably damaging Het
Oosp3 A T 19: 11,682,806 (GRCm39) K158M probably benign Het
Or51i1 C A 7: 103,671,079 (GRCm39) G149C probably damaging Het
Or56a3 A G 7: 104,735,589 (GRCm39) Y222C Het
Orc3 G A 4: 34,607,135 (GRCm39) T65I probably benign Het
Pcsk9 G T 4: 106,307,386 (GRCm39) L286I probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pnma1 T C 12: 84,193,941 (GRCm39) Y254C probably benign Het
Ppm1k T A 6: 57,487,762 (GRCm39) N354Y probably damaging Het
Ralgapa1 T C 12: 55,659,485 (GRCm39) T2012A possibly damaging Het
Selp T A 1: 163,953,858 (GRCm39) W53R probably damaging Het
Slc10a7 T A 8: 79,456,304 (GRCm39) V302E possibly damaging Het
Slc25a32 T C 15: 38,969,339 (GRCm39) I65V probably benign Het
Spesp1 A G 9: 62,180,545 (GRCm39) F121S probably damaging Het
Syncrip T C 9: 88,361,671 (GRCm39) T110A probably benign Het
Tc2n T C 12: 101,660,818 (GRCm39) D138G probably benign Het
Tnfrsf9 C T 4: 151,018,865 (GRCm39) P179S probably benign Het
Ube2r2 A G 4: 41,183,329 (GRCm39) T117A probably benign Het
Ush2a A C 1: 188,132,078 (GRCm39) K767Q possibly damaging Het
Vdr A G 15: 97,767,285 (GRCm39) V161A probably benign Het
Vmn1r33 T C 6: 66,589,075 (GRCm39) T160A possibly damaging Het
Vmn1r63 A G 7: 5,805,913 (GRCm39) S240P probably benign Het
Vmp1 T C 11: 86,476,156 (GRCm39) N400S probably benign Het
Zfp599 G A 9: 22,160,824 (GRCm39) T447I 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
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
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
Predicted Primers PCR Primer
(F):5'- GGGTGCGGTTTCCACTAAAG -3'
(R):5'- TTCCAGAAAGAATAAGTCACTTCCC -3'

Sequencing Primer
(F):5'- TTCAGACGTGGGCAAGAACTCC -3'
(R):5'- GAATAAGTCACTTCCCCATAGATTC -3'
Posted On 2022-10-06