Incidental Mutation 'R6910:Pcdhga10'
ID 538995
Institutional Source Beutler Lab
Gene Symbol Pcdhga10
Ensembl Gene ENSMUSG00000102222
Gene Name protocadherin gamma subfamily A, 10
Synonyms
MMRRC Submission 045002-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R6910 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37880069-37974923 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37881285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 349 (S349T)
Ref Sequence ENSEMBL: ENSMUSP00000141359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003599] [ENSMUST00000066149] [ENSMUST00000073447] [ENSMUST00000091935] [ENSMUST00000115661] [ENSMUST00000192511] [ENSMUST00000193404] [ENSMUST00000192535] [ENSMUST00000192931] [ENSMUST00000193414] [ENSMUST00000193869] [ENSMUST00000194190] [ENSMUST00000194418] [ENSMUST00000194544] [ENSMUST00000194928] [ENSMUST00000195112] [ENSMUST00000195363] [ENSMUST00000195823]
AlphaFold Q91XY9
Predicted Effect probably benign
Transcript: ENSMUST00000003599
SMART Domains Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088

DomainStartEndE-ValueType
CA 47 131 8.06e-6 SMART
CA 155 240 2.29e-19 SMART
CA 264 345 3.36e-26 SMART
CA 369 450 4.94e-24 SMART
CA 474 560 7.6e-25 SMART
CA 591 672 9.18e-10 SMART
Pfam:Cadherin_C_2 687 768 3.5e-20 PFAM
Pfam:Cadherin_tail 807 930 8.1e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066149
SMART Domains Protein: ENSMUSP00000067728
Gene: ENSMUSG00000103897

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
CA 31 131 4.84e-2 SMART
CA 155 240 1.48e-22 SMART
CA 264 345 1.14e-23 SMART
CA 369 450 9.44e-21 SMART
CA 474 560 1.03e-26 SMART
CA 591 669 3.64e-13 SMART
Pfam:Cadherin_C_2 688 772 3e-25 PFAM
Pfam:Cadherin_tail 809 932 8.1e-38 PFAM
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: ENSMUST00000091935
SMART Domains Protein: ENSMUSP00000089555
Gene: ENSMUSG00000102440

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
CA 32 132 8.37e-3 SMART
CA 156 241 5.51e-22 SMART
CA 265 346 8.27e-26 SMART
CA 370 451 1.4e-23 SMART
CA 475 561 2.97e-27 SMART
CA 592 670 1.18e-12 SMART
Pfam:Cadherin_C_2 688 772 3.9e-24 PFAM
Pfam:Cadherin_tail 809 932 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
SMART Domains Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472

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 damaging
Transcript: ENSMUST00000193404
AA Change: S349T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141359
Gene: ENSMUSG00000102222
AA Change: S349T

DomainStartEndE-ValueType
CA 43 129 2.76e-2 SMART
CA 153 238 1.16e-20 SMART
CA 262 343 1.25e-25 SMART
CA 367 448 4.75e-26 SMART
CA 472 558 3.69e-23 SMART
CA 589 667 3.84e-12 SMART
transmembrane domain 690 712 N/A INTRINSIC
low complexity region 911 930 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192535
SMART Domains Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749

DomainStartEndE-ValueType
low complexity region 17 25 N/A INTRINSIC
CA 56 131 8e-3 SMART
CA 155 240 2.49e-20 SMART
CA 264 341 4.97e-29 SMART
CA 365 446 1.09e-25 SMART
CA 470 556 1.75e-24 SMART
CA 587 668 9.18e-10 SMART
transmembrane domain 687 709 N/A INTRINSIC
low complexity region 907 926 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: 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: ENSMUST00000194928
SMART Domains Protein: ENSMUSP00000141997
Gene: ENSMUSG00000104063

DomainStartEndE-ValueType
CA 47 131 2.48e-6 SMART
CA 155 240 1.57e-17 SMART
CA 264 343 1.29e-27 SMART
CA 367 448 9.14e-28 SMART
CA 472 558 1.24e-24 SMART
CA 589 670 3.73e-10 SMART
transmembrane domain 689 711 N/A INTRINSIC
low complexity region 716 721 N/A INTRINSIC
low complexity region 910 929 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 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
Meta Mutation Damage Score 0.2487 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (37/37)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cfap54 A G 10: 92,672,374 (GRCm39) S2899P probably benign Het
Chil5 A G 3: 105,926,977 (GRCm39) W82R probably damaging Het
Dennd3 A G 15: 73,426,965 (GRCm39) T781A probably benign Het
Epha2 A G 4: 141,048,824 (GRCm39) D597G probably damaging Het
Gcn1 A G 5: 115,744,597 (GRCm39) T1598A probably benign Het
Glp2r A G 11: 67,621,497 (GRCm39) F162S probably benign Het
Gm17655 T A 5: 110,195,039 (GRCm39) R248* probably null Het
Gnptab G A 10: 88,267,258 (GRCm39) G450S probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Hapln2 A G 3: 87,931,135 (GRCm39) Y127H probably damaging Het
Hdac4 G T 1: 91,909,875 (GRCm39) T463K probably damaging Het
Ift80 A C 3: 68,835,068 (GRCm39) S458A probably benign Het
Lama1 A G 17: 68,098,459 (GRCm39) D1846G possibly damaging Het
Map3k8 A G 18: 4,340,801 (GRCm39) I171T probably benign Het
Micu1 A G 10: 59,576,489 (GRCm39) E115G probably damaging Het
Mrpl39 A G 16: 84,532,080 (GRCm39) V9A unknown Het
Ncoa7 T G 10: 30,570,117 (GRCm39) I281L possibly damaging Het
Nms A G 1: 38,980,976 (GRCm39) E54G probably benign Het
Nrip1 G A 16: 76,091,305 (GRCm39) A84V probably damaging Het
Or10ak9 T A 4: 118,726,335 (GRCm39) M119K probably damaging Het
Or11g27 G A 14: 50,771,330 (GRCm39) V154M probably benign Het
R3hcc1 G A 14: 69,935,024 (GRCm39) P454L probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Ryr3 T C 2: 112,788,520 (GRCm39) D170G probably damaging Het
Sanbr A G 11: 23,570,447 (GRCm39) V151A probably damaging Het
Scp2 C A 4: 107,962,283 (GRCm39) G81C probably damaging Het
Sez6 A G 11: 77,844,695 (GRCm39) T173A possibly damaging Het
Syne1 T C 10: 4,998,887 (GRCm39) H8142R probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tnfrsf11a A G 1: 105,772,272 (GRCm39) T520A probably damaging Het
Tpm1 A G 9: 66,939,256 (GRCm39) S170P probably damaging Het
Try5 T C 6: 41,288,733 (GRCm39) D54G possibly damaging Het
Vmn2r-ps158 T C 7: 42,673,475 (GRCm39) F178L probably benign Het
Zan T C 5: 137,417,342 (GRCm39) E3041G unknown Het
Zfp1001 A T 2: 150,165,987 (GRCm39) Q56L probably benign Het
Zfp616 A T 11: 73,975,828 (GRCm39) H699L probably damaging Het
Other mutations in Pcdhga10
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4468001:Pcdhga10 UTSW 18 37,880,936 (GRCm39) missense probably damaging 1.00
R2848:Pcdhga10 UTSW 18 37,881,253 (GRCm39) missense possibly damaging 0.82
R2849:Pcdhga10 UTSW 18 37,881,253 (GRCm39) missense possibly damaging 0.82
R3692:Pcdhga10 UTSW 18 37,881,384 (GRCm39) missense probably damaging 1.00
R3820:Pcdhga10 UTSW 18 37,880,995 (GRCm39) missense probably damaging 0.98
R3821:Pcdhga10 UTSW 18 37,880,995 (GRCm39) missense probably damaging 0.98
R3850:Pcdhga10 UTSW 18 37,882,074 (GRCm39) missense probably damaging 1.00
R3882:Pcdhga10 UTSW 18 37,880,494 (GRCm39) missense possibly damaging 0.78
R3891:Pcdhga10 UTSW 18 37,882,534 (GRCm39) missense probably benign 0.28
R3892:Pcdhga10 UTSW 18 37,882,534 (GRCm39) missense probably benign 0.28
R4871:Pcdhga10 UTSW 18 37,881,253 (GRCm39) missense probably damaging 0.98
R4952:Pcdhga10 UTSW 18 37,880,213 (GRCm39) intron probably benign
R5269:Pcdhga10 UTSW 18 37,881,747 (GRCm39) missense probably benign 0.01
R5354:Pcdhga10 UTSW 18 37,881,259 (GRCm39) missense probably damaging 1.00
R5361:Pcdhga10 UTSW 18 37,880,503 (GRCm39) missense probably damaging 1.00
R6555:Pcdhga10 UTSW 18 37,882,488 (GRCm39) missense probably damaging 0.98
R6993:Pcdhga10 UTSW 18 37,882,309 (GRCm39) missense probably damaging 1.00
R7379:Pcdhga10 UTSW 18 37,880,619 (GRCm39) missense probably damaging 1.00
R7980:Pcdhga10 UTSW 18 37,881,645 (GRCm39) missense possibly damaging 0.91
R8838:Pcdhga10 UTSW 18 37,881,952 (GRCm39) missense possibly damaging 0.80
R9135:Pcdhga10 UTSW 18 37,880,960 (GRCm39) missense probably damaging 1.00
R9266:Pcdhga10 UTSW 18 37,881,814 (GRCm39) missense probably benign 0.15
R9341:Pcdhga10 UTSW 18 37,880,532 (GRCm39) missense probably benign 0.05
R9343:Pcdhga10 UTSW 18 37,880,532 (GRCm39) missense probably benign 0.05
R9494:Pcdhga10 UTSW 18 37,882,421 (GRCm39) missense probably benign 0.00
R9789:Pcdhga10 UTSW 18 37,882,363 (GRCm39) missense probably benign 0.05
Z1177:Pcdhga10 UTSW 18 37,881,648 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- AATCGCTGGACACACAATTG -3'
(R):5'- GGTACCTGTTCCCGATCAAG -3'

Sequencing Primer
(F):5'- ACACAATTGTCCAAATTCCAACTAG -3'
(R):5'- CAAGGGCTCTTTGTGTCACTAGC -3'
Posted On 2018-11-06