Incidental Mutation 'R6597:Pcdhga7'
ID 524999
Institutional Source Beutler Lab
Gene Symbol Pcdhga7
Ensembl Gene ENSMUSG00000103472
Gene Name protocadherin gamma subfamily A, 7
Synonyms
MMRRC Submission 044721-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R6597 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37847887-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37850059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 689 (S689P)
Ref Sequence ENSEMBL: ENSMUSP00000142126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073447] [ENSMUST00000115661] [ENSMUST00000192511] [ENSMUST00000192931] [ENSMUST00000193414] [ENSMUST00000193476] [ENSMUST00000194544] [ENSMUST00000194190] [ENSMUST00000193869] [ENSMUST00000194418] [ENSMUST00000195823] [ENSMUST00000195112] [ENSMUST00000195363]
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: S689P

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472
AA Change: S689P

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: S689P

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142126
Gene: ENSMUSG00000103472
AA Change: S689P

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 probably benign
Transcript: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
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: 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: 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: 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: 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 noncoding transcript
Transcript: ENSMUST00000195069
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 100% (50/50)
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
A2m A G 6: 121,625,080 (GRCm39) Y486C probably damaging Het
Asb17 A T 3: 153,550,321 (GRCm39) T118S probably damaging Het
Atl2 T A 17: 80,160,195 (GRCm39) D293V possibly damaging Het
Bbs1 T A 19: 4,949,334 (GRCm39) M242L probably benign Het
Btg1 T A 10: 96,454,182 (GRCm39) S65T probably damaging Het
Cfap54 T C 10: 92,834,902 (GRCm39) D1101G possibly damaging Het
Cmpk2 G T 12: 26,524,144 (GRCm39) V314L possibly damaging Het
Fbxl8 A C 8: 105,995,523 (GRCm39) D345A probably benign Het
Gys2 T A 6: 142,402,035 (GRCm39) H268L probably benign Het
Hecw1 T A 13: 14,491,403 (GRCm39) R117* probably null Het
Hoxd10 G A 2: 74,522,984 (GRCm39) A221T probably benign Het
Hspa13 A T 16: 75,562,085 (GRCm39) L38Q probably damaging Het
Inava G T 1: 136,153,927 (GRCm39) A87E probably damaging Het
Ipo11 A G 13: 107,002,371 (GRCm39) probably null Het
Itgb8 A G 12: 119,137,133 (GRCm39) V390A possibly damaging Het
Kalrn T A 16: 34,003,117 (GRCm39) I1370F probably damaging Het
Macf1 T C 4: 123,276,485 (GRCm39) N6086S probably damaging Het
Ms4a13 T C 19: 11,170,303 (GRCm39) T14A probably benign Het
Or11g26 T A 14: 50,753,008 (GRCm39) C116S probably benign Het
Or55b10 A T 7: 102,143,628 (GRCm39) I118N probably damaging Het
Or5ac22 C T 16: 59,135,713 (GRCm39) R19H probably benign Het
Or5d37 A G 2: 87,923,413 (GRCm39) F289S probably damaging Het
Or8b47 A T 9: 38,435,300 (GRCm39) I91F probably benign Het
Or9q1 T A 19: 13,805,821 (GRCm39) probably benign Het
Patl2 T A 2: 122,016,645 (GRCm39) probably benign Het
Pitpnc1 G T 11: 107,117,058 (GRCm39) Y227* probably null Het
Pla2g2e T C 4: 138,607,984 (GRCm39) V22A unknown Het
Ppil1 C A 17: 29,480,852 (GRCm39) V24F probably benign Het
Prl3b1 G A 13: 27,431,957 (GRCm39) probably null Het
Rabgef1 G A 5: 130,219,885 (GRCm39) probably null Het
Rhot2 A T 17: 26,059,886 (GRCm39) W341R probably damaging Het
Rps6kc1 A T 1: 190,482,381 (GRCm39) W286R probably benign Het
Rrs1 A G 1: 9,616,601 (GRCm39) T285A probably damaging Het
Shc3 T A 13: 51,597,009 (GRCm39) D338V possibly damaging Het
Siglech A T 7: 55,418,211 (GRCm39) M60L probably benign Het
Slc12a6 G T 2: 112,183,280 (GRCm39) V756F probably damaging Het
Slc43a2 G A 11: 75,462,681 (GRCm39) G507D probably damaging Het
Slf1 A G 13: 77,197,248 (GRCm39) S789P probably benign Het
Spata31d1d C A 13: 59,873,871 (GRCm39) M1221I probably benign Het
Srgap1 T C 10: 121,628,276 (GRCm39) N899D probably benign Het
Stag1 G A 9: 100,769,473 (GRCm39) M529I probably benign Het
Tekt3 A G 11: 62,972,085 (GRCm39) D247G probably benign Het
Tmppe A T 9: 114,234,312 (GRCm39) M204L probably benign Het
Tpsg1 G A 17: 25,588,271 (GRCm39) probably benign Het
Ttn A G 2: 76,628,315 (GRCm39) V6288A probably benign Het
Ttn A T 2: 76,723,444 (GRCm39) probably benign Het
Twsg1 C A 17: 66,244,799 (GRCm39) V73F probably damaging Het
Vmn2r102 A G 17: 19,914,450 (GRCm39) T672A probably damaging Het
Vps36 A G 8: 22,692,320 (GRCm39) I66V probably benign Het
Xrcc4 A T 13: 90,149,048 (GRCm39) D157E probably benign Het
Zbbx T A 3: 75,043,761 (GRCm39) Q162L probably damaging Het
Zfp560 T A 9: 20,259,297 (GRCm39) I522L probably benign Het
Zscan20 T C 4: 128,479,539 (GRCm39) N984S 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
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'- TTAAAGCCAGTGAGCCAGG -3'
(R):5'- CTACAAAGTGTGAGGCAGGC -3'

Sequencing Primer
(F):5'- TTCTCAGTAGGGCTACACACTGG -3'
(R):5'- AGTGTGAGGCAGGCACATCTTC -3'
Posted On 2018-06-22