Incidental Mutation 'R9494:Pcdhga10'
ID 717127
Institutional Source Beutler Lab
Gene Symbol Pcdhga10
Ensembl Gene ENSMUSG00000102222
Gene Name protocadherin gamma subfamily A, 10
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R9494 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37880069-37974923 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37882421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 727 (R727S)
Ref Sequence ENSEMBL: ENSMUSP00000141359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003599] [ENSMUST00000066149] [ENSMUST00000073447] [ENSMUST00000091935] [ENSMUST00000115661] [ENSMUST00000192511] [ENSMUST00000192535] [ENSMUST00000193404] [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 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: ENSMUST00000193404
AA Change: R727S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141359
Gene: ENSMUSG00000102222
AA Change: R727S

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: 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 T C 1: 59,206,664 (GRCm39) D1593G probably damaging Het
Atad2b C A 12: 5,081,852 (GRCm39) P1254T probably benign Het
Brsk2 C T 7: 141,555,955 (GRCm39) R716C possibly damaging Het
Bzw2 T A 12: 36,184,947 (GRCm39) M1L probably benign Het
Cd300ld2 T A 11: 114,901,249 (GRCm39) H277L possibly damaging Het
Col6a5 A T 9: 105,822,732 (GRCm39) D208E unknown Het
Cul3 T A 1: 80,255,169 (GRCm39) S544C probably damaging Het
Enpp1 C A 10: 24,527,234 (GRCm39) R651L probably benign Het
Epha10 C T 4: 124,808,649 (GRCm39) A766V Het
Epor A G 9: 21,870,522 (GRCm39) Y453H probably damaging Het
Fam13a T C 6: 58,930,508 (GRCm39) K468R probably benign Het
Ffar4 C T 19: 38,086,083 (GRCm39) A170V probably benign Het
Fhip1a A T 3: 85,583,565 (GRCm39) Y410* probably null Het
Gm10203 A G 6: 149,031,740 (GRCm39) Y15C unknown Het
Kansl1 T C 11: 104,247,566 (GRCm39) T595A probably benign Het
Lmtk2 A T 5: 144,037,338 (GRCm39) probably benign Het
Mybl2 G A 2: 162,917,843 (GRCm39) V69I possibly damaging Het
Myo1d T C 11: 80,375,093 (GRCm39) K994E probably benign Het
Or5p75-ps1 C A 7: 108,107,800 (GRCm39) T179K unknown Het
Pgp T A 17: 24,689,809 (GRCm39) L109Q probably damaging Het
Piwil2 C T 14: 70,660,421 (GRCm39) G68D probably benign Het
Pms2 T A 5: 143,853,214 (GRCm39) I193N probably damaging Het
Pnpla7 T A 2: 24,942,390 (GRCm39) L1236* probably null Het
Pole2 A G 12: 69,249,731 (GRCm39) V489A possibly damaging Het
Rapgef2 G A 3: 79,019,495 (GRCm39) L59F probably damaging Het
Rnf32 T C 5: 29,429,145 (GRCm39) S241P probably damaging Het
Samd9l T A 6: 3,375,830 (GRCm39) K477I possibly damaging Het
Stn1 C T 19: 47,513,125 (GRCm39) probably null Het
Svep1 A G 4: 58,070,577 (GRCm39) V2403A possibly damaging Het
Synrg T C 11: 83,881,747 (GRCm39) M361T probably benign Het
Tbc1d2b A T 9: 90,152,563 (GRCm39) Y68N probably damaging Het
Tbc1d4 A T 14: 101,845,895 (GRCm39) M1K probably null Het
Thsd1 C T 8: 22,733,268 (GRCm39) P105L probably benign Het
Tnxb T C 17: 34,904,796 (GRCm39) L1187P probably damaging Het
Trio T C 15: 27,846,843 (GRCm39) T1057A probably benign Het
Tubg1 T C 11: 101,011,724 (GRCm39) I77T probably damaging Het
Txndc11 A G 16: 10,952,156 (GRCm39) L73P probably damaging Het
Uck1 G A 2: 32,148,179 (GRCm39) R182* probably null Het
Vangl1 T C 3: 102,070,665 (GRCm39) S424G probably damaging Het
Vmn2r69 A G 7: 85,056,084 (GRCm39) W685R probably benign Het
Vmn2r69 G A 7: 85,060,768 (GRCm39) S272L probably damaging Het
Zbtb18 A T 1: 177,275,648 (GRCm39) D327V probably benign Het
Zfp607b T C 7: 27,403,092 (GRCm39) F516S probably damaging Het
Zzz3 A G 3: 152,133,468 (GRCm39) I175M possibly 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
R6910:Pcdhga10 UTSW 18 37,881,285 (GRCm39) missense probably damaging 0.99
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
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'- TGATGTCCTGGCAGACTTGG -3'
(R):5'- TTCTACAGGACACTTGGAATCATC -3'

Sequencing Primer
(F):5'- TGGCAGACTTGGGCAAC -3'
(R):5'- GGACACTTGGAATCATCTAACAAAG -3'
Posted On 2022-07-18