Incidental Mutation 'R9375:Pcdha3'
ID 709591
Institutional Source Beutler Lab
Gene Symbol Pcdha3
Ensembl Gene ENSMUSG00000102312
Gene Name protocadherin alpha 3
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R9375 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37079158-37320710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 37079353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 32 (V32I)
Ref Sequence ENSEMBL: ENSMUSP00000141989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000115662] [ENSMUST00000192503] [ENSMUST00000193839] [ENSMUST00000195590]
AlphaFold Q91Y16
Predicted Effect probably benign
Transcript: ENSMUST00000070797
SMART Domains Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442

DomainStartEndE-ValueType
CA 22 132 3.09e-2 SMART
CA 156 241 6.14e-20 SMART
CA 265 349 3.92e-27 SMART
CA 373 454 4.94e-24 SMART
CA 478 564 1e-24 SMART
CA 592 672 4.55e-14 SMART
transmembrane domain 694 716 N/A INTRINSIC
Pfam:Cadherin_tail 797 931 5.3e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115662
SMART Domains Protein: ENSMUSP00000111326
Gene: ENSMUSG00000104148

DomainStartEndE-ValueType
CA 45 131 6.34e-2 SMART
CA 155 240 2.98e-18 SMART
CA 264 348 2.17e-29 SMART
CA 372 453 2.84e-24 SMART
CA 477 563 5.02e-25 SMART
CA 594 675 8.16e-16 SMART
transmembrane domain 695 717 N/A INTRINSIC
low complexity region 916 940 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192503
AA Change: V32I

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000141989
Gene: ENSMUSG00000102312
AA Change: V32I

DomainStartEndE-ValueType
low complexity region 11 17 N/A INTRINSIC
CA 42 128 3.78e-2 SMART
CA 152 237 8.94e-22 SMART
CA 261 345 3.74e-24 SMART
CA 369 450 1.09e-25 SMART
CA 474 560 1.42e-24 SMART
CA 588 670 2.96e-13 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 910 934 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193839
SMART Domains Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442

DomainStartEndE-ValueType
CA 22 132 3.09e-2 SMART
CA 156 241 6.14e-20 SMART
CA 265 349 3.92e-27 SMART
CA 373 454 4.94e-24 SMART
CA 478 564 1e-24 SMART
CA 592 672 4.55e-14 SMART
transmembrane domain 694 716 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195590
SMART Domains Protein: ENSMUSP00000141355
Gene: ENSMUSG00000104148

DomainStartEndE-ValueType
CA 45 131 6.34e-2 SMART
CA 155 240 2.98e-18 SMART
CA 264 348 2.17e-29 SMART
CA 372 453 2.84e-24 SMART
CA 477 563 5.02e-25 SMART
CA 594 675 8.16e-16 SMART
transmembrane domain 695 717 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 99% (72/73)
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 alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,332,567 (GRCm39) D549G probably benign Het
Aamdc A G 7: 97,199,902 (GRCm39) V120A probably benign Het
Acp2 A T 2: 91,037,174 (GRCm39) Q251L probably benign Het
AI597479 C T 1: 43,150,505 (GRCm39) A205V possibly damaging Het
Apob A G 12: 8,029,261 (GRCm39) T44A possibly damaging Het
Arhgap18 G A 10: 26,648,610 (GRCm39) V11M probably damaging Het
Arhgef10l T G 4: 140,319,265 (GRCm39) H156P probably benign Het
Aste1 G A 9: 105,273,880 (GRCm39) C40Y probably benign Het
Ccn2 A T 10: 24,473,501 (GRCm39) M347L possibly damaging Het
Chd9 G A 8: 91,725,335 (GRCm39) probably null Het
Clec4n T A 6: 123,207,662 (GRCm39) F42L probably benign Het
Cngb1 T C 8: 96,026,350 (GRCm39) K144E unknown Het
Cyp4f17 A G 17: 32,747,746 (GRCm39) T485A probably damaging Het
Dcaf6 T A 1: 165,185,052 (GRCm39) Y480F probably damaging Het
Defa30 C T 8: 21,624,686 (GRCm39) T3I probably damaging Het
Dmxl1 T A 18: 50,091,477 (GRCm39) W2854R probably damaging Het
Dnah11 G A 12: 117,884,703 (GRCm39) T3783I possibly damaging Het
Dync1i1 T A 6: 5,913,443 (GRCm39) F225L possibly damaging Het
Elp6 T A 9: 110,144,852 (GRCm39) Y119* probably null Het
Enpep A T 3: 129,125,529 (GRCm39) M201K probably benign Het
Fam161a A T 11: 22,970,661 (GRCm39) R280W probably damaging Het
Fam98a T C 17: 75,848,330 (GRCm39) N128S possibly damaging Het
Fpgt A T 3: 154,792,934 (GRCm39) D364E probably benign Het
G3bp1 T A 11: 55,390,439 (GRCm39) M448K probably damaging Het
Gadd45b T C 10: 80,766,284 (GRCm39) M16T probably benign Het
Gdi2 A T 13: 3,614,869 (GRCm39) I383F probably benign Het
H2-T13 T C 17: 36,391,993 (GRCm39) T27A possibly damaging Het
Igtp T G 11: 58,097,026 (GRCm39) L66V probably damaging Het
Kcne4 G A 1: 78,795,623 (GRCm39) M90I probably benign Het
Lmo7 T A 14: 102,136,123 (GRCm39) M732K probably damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mast4 T G 13: 102,917,753 (GRCm39) S552R probably damaging Het
Meak7 G A 8: 120,498,096 (GRCm39) A136V probably benign Het
Mff A T 1: 82,707,007 (GRCm39) M11L probably benign Het
Mterf2 T C 10: 84,956,327 (GRCm39) E99G probably damaging Het
Myef2l T C 3: 10,153,791 (GRCm39) S187P probably benign Het
Myom2 T A 8: 15,149,210 (GRCm39) N560K probably damaging Het
Nab2 A G 10: 127,500,580 (GRCm39) S171P probably damaging Het
Nhlrc3 T C 3: 53,369,190 (GRCm39) N83S possibly damaging Het
Nod2 A T 8: 89,391,033 (GRCm39) I447F probably damaging Het
Npat T A 9: 53,474,456 (GRCm39) D749E possibly damaging Het
Nxph4 A G 10: 127,362,631 (GRCm39) S87P probably benign Het
Or2y1f T A 11: 49,184,902 (GRCm39) Y251* probably null Het
Or51i2 G T 7: 103,689,273 (GRCm39) R90L possibly damaging Het
Or5d47 G A 2: 87,804,526 (GRCm39) T161M possibly damaging Het
Or6c6 T A 10: 129,186,989 (GRCm39) S186T probably damaging Het
Or9q2 T A 19: 13,772,214 (GRCm39) T254S probably damaging Het
Pcdhgc3 A T 18: 37,939,691 (GRCm39) T31S probably benign Het
Phldb3 A G 7: 24,323,297 (GRCm39) R391G probably damaging Het
Piezo1 A G 8: 123,228,604 (GRCm39) V257A Het
Pip5k1b T A 19: 24,416,442 (GRCm39) Q15L probably benign Het
Plxnc1 T C 10: 94,649,093 (GRCm39) N1229D probably benign Het
Ptpn12 A G 5: 21,224,212 (GRCm39) V127A probably benign Het
Ptprr T A 10: 116,109,724 (GRCm39) V655D probably benign Het
Rbbp8 A G 18: 11,838,888 (GRCm39) T190A probably benign Het
Rnf17 T A 14: 56,719,579 (GRCm39) V943E probably damaging Het
Rnpc3 C T 3: 113,404,913 (GRCm39) G414D probably damaging Het
Robo4 T A 9: 37,316,158 (GRCm39) N387K probably damaging Het
Sall4 G A 2: 168,597,781 (GRCm39) T353M probably damaging Het
Serpinb13 T C 1: 106,909,997 (GRCm39) I38T probably damaging Het
Sgsm1 A T 5: 113,422,139 (GRCm39) I218N unknown Het
Sntg2 T A 12: 30,293,343 (GRCm39) probably null Het
Taf1c G A 8: 120,325,393 (GRCm39) S823F probably damaging Het
Timd6 T A 11: 46,468,246 (GRCm39) C107S probably damaging Het
Trhde T G 10: 114,244,598 (GRCm39) I963L probably damaging Het
Trim43b T C 9: 88,967,619 (GRCm39) Y339C probably damaging Het
Trp53 T A 11: 69,480,537 (GRCm39) probably null Het
Tubg2 T C 11: 101,051,621 (GRCm39) V282A probably benign Het
Ube2g1 C T 11: 72,553,943 (GRCm39) probably benign Het
Usp34 C A 11: 23,437,203 (GRCm39) A3341E Het
Vmn2r12 T A 5: 109,233,986 (GRCm39) H742L probably damaging Het
Vmn2r24 T C 6: 123,792,542 (GRCm39) V623A probably damaging Het
Vmn2r5 A T 3: 64,411,316 (GRCm39) D417E probably damaging Het
Vmn2r-ps158 C T 7: 42,673,499 (GRCm39) P193S possibly damaging Het
Xirp2 A T 2: 67,342,118 (GRCm39) D1453V probably damaging Het
Zfp2 T C 11: 50,791,042 (GRCm39) S334G probably damaging Het
Other mutations in Pcdha3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2497:Pcdha3 UTSW 18 37,080,556 (GRCm39) missense probably benign
R3702:Pcdha3 UTSW 18 37,080,401 (GRCm39) missense probably benign 0.16
R4090:Pcdha3 UTSW 18 37,081,504 (GRCm39) missense probably benign 0.04
R4273:Pcdha3 UTSW 18 37,081,144 (GRCm39) missense probably damaging 1.00
R4486:Pcdha3 UTSW 18 37,080,404 (GRCm39) missense probably damaging 1.00
R4535:Pcdha3 UTSW 18 37,081,013 (GRCm39) missense probably damaging 1.00
R4582:Pcdha3 UTSW 18 37,080,485 (GRCm39) missense probably benign
R4712:Pcdha3 UTSW 18 37,079,560 (GRCm39) missense probably damaging 1.00
R5160:Pcdha3 UTSW 18 37,079,480 (GRCm39) missense probably damaging 1.00
R5302:Pcdha3 UTSW 18 37,081,208 (GRCm39) missense probably damaging 0.96
R5361:Pcdha3 UTSW 18 37,079,752 (GRCm39) missense possibly damaging 0.80
R5535:Pcdha3 UTSW 18 37,080,989 (GRCm39) missense probably benign 0.02
R5682:Pcdha3 UTSW 18 37,081,040 (GRCm39) missense probably damaging 0.99
R6656:Pcdha3 UTSW 18 37,080,875 (GRCm39) missense probably benign 0.24
R6878:Pcdha3 UTSW 18 37,080,416 (GRCm39) nonsense probably null
R7150:Pcdha3 UTSW 18 37,080,165 (GRCm39) missense probably benign 0.01
R7167:Pcdha3 UTSW 18 37,080,046 (GRCm39) missense probably damaging 1.00
R7299:Pcdha3 UTSW 18 37,079,977 (GRCm39) missense possibly damaging 0.56
R7301:Pcdha3 UTSW 18 37,079,977 (GRCm39) missense possibly damaging 0.56
R7448:Pcdha3 UTSW 18 37,079,266 (GRCm39) missense probably benign 0.00
R7467:Pcdha3 UTSW 18 37,080,584 (GRCm39) missense probably damaging 1.00
R7542:Pcdha3 UTSW 18 37,080,784 (GRCm39) missense possibly damaging 0.86
R7659:Pcdha3 UTSW 18 37,081,219 (GRCm39) missense probably benign 0.14
R7761:Pcdha3 UTSW 18 37,079,347 (GRCm39) missense probably damaging 1.00
R7782:Pcdha3 UTSW 18 37,081,193 (GRCm39) missense probably damaging 0.98
R7939:Pcdha3 UTSW 18 37,080,933 (GRCm39) missense probably damaging 1.00
R8217:Pcdha3 UTSW 18 37,079,974 (GRCm39) missense probably damaging 0.99
R8440:Pcdha3 UTSW 18 37,080,914 (GRCm39) missense probably damaging 1.00
R8938:Pcdha3 UTSW 18 37,080,154 (GRCm39) missense probably benign 0.43
R9378:Pcdha3 UTSW 18 37,080,284 (GRCm39) missense probably damaging 1.00
R9546:Pcdha3 UTSW 18 37,079,389 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2022-04-18