Incidental Mutation 'R4659:Pcdha6'
ID 352718
Institutional Source Beutler Lab
Gene Symbol Pcdha6
Ensembl Gene ENSMUSG00000103707
Gene Name protocadherin alpha 6
Synonyms Cnr2, Crnr2
MMRRC Submission 041919-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R4659 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37100684-37320710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37102292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 495 (V495E)
Ref Sequence ENSEMBL: ENSMUSP00000141587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000115661] [ENSMUST00000115662] [ENSMUST00000192168] [ENSMUST00000192295] [ENSMUST00000192503] [ENSMUST00000193389] [ENSMUST00000193777] [ENSMUST00000193839] [ENSMUST00000192512] [ENSMUST00000194751] [ENSMUST00000195590] [ENSMUST00000194544] [ENSMUST00000192631]
AlphaFold Q91Y14
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: 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: 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: ENSMUST00000192168
SMART Domains Protein: ENSMUSP00000142293
Gene: ENSMUSG00000103092

DomainStartEndE-ValueType
CA 21 131 2.2e-2 SMART
CA 155 240 2.05e-21 SMART
CA 264 348 8.81e-21 SMART
CA 372 453 2.01e-24 SMART
CA 477 563 1.42e-24 SMART
CA 591 673 1.63e-15 SMART
transmembrane domain 693 715 N/A INTRINSIC
low complexity region 902 926 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192178
Predicted Effect probably benign
Transcript: ENSMUST00000192295
SMART Domains Protein: ENSMUSP00000142103
Gene: ENSMUSG00000104252

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 477 568 5.38e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192503
SMART Domains Protein: ENSMUSP00000141989
Gene: ENSMUSG00000102312

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 damaging
Transcript: ENSMUST00000193389
AA Change: V495E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141459
Gene: ENSMUSG00000103707
AA Change: V495E

DomainStartEndE-ValueType
CA 21 131 5.67e-2 SMART
CA 155 240 4.72e-21 SMART
CA 264 348 1.9e-25 SMART
CA 372 453 3.31e-25 SMART
CA 477 563 1.42e-24 SMART
CA 594 676 5.91e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000193777
AA Change: V495E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141587
Gene: ENSMUSG00000103707
AA Change: V495E

DomainStartEndE-ValueType
CA 21 131 5.67e-2 SMART
CA 155 240 4.72e-21 SMART
CA 264 348 1.9e-25 SMART
CA 372 453 3.31e-25 SMART
CA 477 563 1.42e-24 SMART
CA 594 676 5.91e-13 SMART
low complexity region 914 938 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: ENSMUST00000192512
SMART Domains Protein: ENSMUSP00000141408
Gene: ENSMUSG00000104252

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
low complexity region 915 939 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194751
SMART Domains Protein: ENSMUSP00000142285
Gene: ENSMUSG00000103707

DomainStartEndE-ValueType
low complexity region 15 21 N/A INTRINSIC
Pfam:Cadherin_2 29 112 4.5e-32 PFAM
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
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: ENSMUST00000192631
SMART Domains Protein: ENSMUSP00000142156
Gene: ENSMUSG00000104318

DomainStartEndE-ValueType
CA 21 131 2.58e-2 SMART
CA 155 240 4.27e-19 SMART
CA 264 348 1.42e-24 SMART
CA 372 453 9.36e-25 SMART
CA 477 563 1.42e-24 SMART
CA 594 671 4.03e-6 SMART
transmembrane domain 696 718 N/A INTRINSIC
low complexity region 905 929 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 96% (74/77)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C A 6: 142,618,321 (GRCm39) probably null Het
Ankrd22 C T 19: 34,102,968 (GRCm39) V118I probably damaging Het
Aoc1 A T 6: 48,883,010 (GRCm39) E295D probably benign Het
Arap2 T C 5: 62,811,469 (GRCm39) N1114S possibly damaging Het
AU021092 C G 16: 5,030,011 (GRCm39) A335P probably damaging Het
Carhsp1 T C 16: 8,482,129 (GRCm39) T51A probably benign Het
Cdc42bpb T C 12: 111,306,325 (GRCm39) D152G probably damaging Het
Cep70 T A 9: 99,178,394 (GRCm39) D497E possibly damaging Het
Chrm5 T C 2: 112,310,102 (GRCm39) N338S probably benign Het
Cldn8 G A 16: 88,359,296 (GRCm39) H210Y probably benign Het
Clhc1 T A 11: 29,528,229 (GRCm39) *586K probably null Het
Cplane1 G T 15: 8,245,760 (GRCm39) probably benign Het
Dop1a T A 9: 86,384,085 (GRCm39) probably benign Het
Dync1h1 T C 12: 110,595,201 (GRCm39) F1371S possibly damaging Het
Eif6 A G 2: 155,668,101 (GRCm39) I46T probably damaging Het
Esco2 G A 14: 66,064,035 (GRCm39) T383M possibly damaging Het
Exoc8 T C 8: 125,624,271 (GRCm39) D32G probably damaging Het
Fam149b G T 14: 20,417,941 (GRCm39) S216I probably benign Het
Fam219a T C 4: 41,521,645 (GRCm39) D87G probably null Het
Fbxw26 A T 9: 109,573,939 (GRCm39) V71D probably damaging Het
Gabra4 T A 5: 71,798,487 (GRCm39) K164M probably damaging Het
Gm57858 T C 3: 36,080,103 (GRCm39) D218G possibly damaging Het
Gm8603 G A 17: 13,737,290 (GRCm39) noncoding transcript Het
Gnmt A G 17: 47,036,892 (GRCm39) F239S probably damaging Het
Gpsm1 G A 2: 26,209,843 (GRCm39) probably benign Het
Jam2 G A 16: 84,609,840 (GRCm39) V151M probably damaging Het
Kcnj1 A T 9: 32,305,444 (GRCm39) D2V probably benign Het
Limch1 C T 5: 67,184,900 (GRCm39) R797C probably damaging Het
Lrrc9 T A 12: 72,517,038 (GRCm39) F597I probably damaging Het
Lrriq3 T A 3: 154,835,090 (GRCm39) I275N possibly damaging Het
Mcoln1 T A 8: 3,560,840 (GRCm39) S387R probably damaging Het
Mgst3 T A 1: 167,204,848 (GRCm39) Q58L probably damaging Het
Mical1 G A 10: 41,362,932 (GRCm39) probably benign Het
Mmp3 C A 9: 7,453,673 (GRCm39) D431E probably benign Het
Mx1 T C 16: 97,256,439 (GRCm39) probably null Het
Myo7a A G 7: 97,734,673 (GRCm39) L607P probably damaging Het
Myt1l A G 12: 29,899,456 (GRCm39) N153D probably damaging Het
Nfu1 A T 6: 86,996,408 (GRCm39) T120S probably damaging Het
Nhlrc2 T C 19: 56,564,699 (GRCm39) V341A possibly damaging Het
Notch1 T C 2: 26,360,901 (GRCm39) E1148G probably damaging Het
Nqo1 C T 8: 108,117,676 (GRCm39) probably null Het
Nwd1 T A 8: 73,421,949 (GRCm39) D998E probably benign Het
Or8k18 G A 2: 86,085,357 (GRCm39) Q227* probably null Het
Oxct2a T C 4: 123,216,473 (GRCm39) I303V probably benign Het
Parp10 A T 15: 76,127,185 (GRCm39) D58E probably damaging Het
Pitrm1 T A 13: 6,603,218 (GRCm39) S88R probably benign Het
Pxdn T C 12: 30,044,552 (GRCm39) V510A probably benign Het
Ranbp17 T A 11: 33,216,288 (GRCm39) D820V probably damaging Het
Sec24c G T 14: 20,733,212 (GRCm39) G180C probably damaging Het
Serpina3n T C 12: 104,379,752 (GRCm39) S382P probably benign Het
Sestd1 A T 2: 77,042,843 (GRCm39) M237K probably null Het
Sf3a2 T C 10: 80,639,418 (GRCm39) I136T probably damaging Het
Sh3tc2 A G 18: 62,107,580 (GRCm39) Y197C probably benign Het
Speer4b T C 5: 27,702,893 (GRCm39) K204E probably benign Het
Speer4f1 A C 5: 17,681,221 (GRCm39) E33A possibly damaging Het
Sspo T A 6: 48,461,147 (GRCm39) D3529E probably damaging Het
Stard13 T C 5: 150,986,253 (GRCm39) D419G probably benign Het
Tg A G 15: 66,545,769 (GRCm39) S164G possibly damaging Het
Thap12 A G 7: 98,359,298 (GRCm39) probably benign Het
Thsd1 C A 8: 22,749,314 (GRCm39) Y667* probably null Het
Tnks A C 8: 35,316,465 (GRCm39) Y885D possibly damaging Het
Ttll3 A G 6: 113,391,102 (GRCm39) I896V probably benign Het
Txnip T G 3: 96,466,743 (GRCm39) F190C probably damaging Het
Urb1 T C 16: 90,573,017 (GRCm39) D1005G probably damaging Het
Usp3 T C 9: 66,434,352 (GRCm39) probably null Het
Usp54 G T 14: 20,615,060 (GRCm39) Q794K probably damaging Het
Xrn2 A G 2: 146,903,394 (GRCm39) Q798R probably benign Het
Zfp189 A G 4: 49,530,342 (GRCm39) I482V probably benign Het
Zfp28 A G 7: 6,396,506 (GRCm39) N314D probably benign Het
Zmym4 A G 4: 126,842,221 (GRCm39) probably null Het
Other mutations in Pcdha6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3734:Pcdha6 UTSW 18 37,102,454 (GRCm39) missense probably damaging 1.00
R3859:Pcdha6 UTSW 18 37,102,984 (GRCm39) missense possibly damaging 0.89
R3875:Pcdha6 UTSW 18 37,101,119 (GRCm39) missense probably damaging 1.00
R4446:Pcdha6 UTSW 18 37,100,813 (GRCm39) missense probably benign 0.28
R4647:Pcdha6 UTSW 18 37,102,189 (GRCm39) missense probably damaging 0.98
R4780:Pcdha6 UTSW 18 37,102,906 (GRCm39) missense probably damaging 1.00
R4839:Pcdha6 UTSW 18 37,101,485 (GRCm39) missense possibly damaging 0.73
R4915:Pcdha6 UTSW 18 37,101,510 (GRCm39) missense probably damaging 1.00
R5011:Pcdha6 UTSW 18 37,100,960 (GRCm39) missense probably damaging 1.00
R5084:Pcdha6 UTSW 18 37,102,016 (GRCm39) missense probably damaging 1.00
R5090:Pcdha6 UTSW 18 37,101,770 (GRCm39) missense probably benign 0.15
R5189:Pcdha6 UTSW 18 37,101,844 (GRCm39) missense probably damaging 1.00
R5652:Pcdha6 UTSW 18 37,101,889 (GRCm39) splice site probably null
R5773:Pcdha6 UTSW 18 37,102,643 (GRCm39) missense probably benign 0.00
R5890:Pcdha6 UTSW 18 37,102,121 (GRCm39) missense possibly damaging 0.94
R6135:Pcdha6 UTSW 18 37,102,269 (GRCm39) missense probably damaging 1.00
R6276:Pcdha6 UTSW 18 37,102,820 (GRCm39) splice site probably null
R6346:Pcdha6 UTSW 18 37,101,113 (GRCm39) missense probably damaging 1.00
R6889:Pcdha6 UTSW 18 37,101,396 (GRCm39) missense probably damaging 1.00
R7295:Pcdha6 UTSW 18 37,101,189 (GRCm39) missense probably damaging 1.00
R7776:Pcdha6 UTSW 18 37,103,034 (GRCm39) missense probably benign 0.27
R7944:Pcdha6 UTSW 18 37,101,965 (GRCm39) missense possibly damaging 0.55
R7950:Pcdha6 UTSW 18 37,102,479 (GRCm39) missense probably damaging 1.00
R8371:Pcdha6 UTSW 18 37,102,920 (GRCm39) nonsense probably null
R8513:Pcdha6 UTSW 18 37,102,229 (GRCm39) missense probably damaging 1.00
R8549:Pcdha6 UTSW 18 37,101,594 (GRCm39) missense possibly damaging 0.83
R8735:Pcdha6 UTSW 18 37,101,203 (GRCm39) missense possibly damaging 0.55
R8827:Pcdha6 UTSW 18 37,102,802 (GRCm39) missense probably damaging 1.00
R8881:Pcdha6 UTSW 18 37,101,484 (GRCm39) missense probably damaging 1.00
R9094:Pcdha6 UTSW 18 37,101,593 (GRCm39) missense probably damaging 0.98
R9357:Pcdha6 UTSW 18 37,102,226 (GRCm39) missense probably benign 0.16
Z1088:Pcdha6 UTSW 18 37,102,270 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTATCAGGTGGTGGTGACAG -3'
(R):5'- ACCTGCAGAGTCACATTGC -3'

Sequencing Primer
(F):5'- TCTTTGTGGACCACGGCTAGC -3'
(R):5'- AGAGTCACATTGCTGCCCAG -3'
Posted On 2015-10-08