Incidental Mutation 'R8470:Pcdha11'
ID 657010
Institutional Source Beutler Lab
Gene Symbol Pcdha11
Ensembl Gene ENSMUSG00000102206
Gene Name protocadherin alpha 11
Synonyms A830022B16Rik, Cnr7, Crnr7
MMRRC Submission 067914-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R8470 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37143911-37320710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37145937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 676 (K676R)
Ref Sequence ENSEMBL: ENSMUSP00000142270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000115657] [ENSMUST00000115658] [ENSMUST00000115659] [ENSMUST00000115661] [ENSMUST00000115662] [ENSMUST00000192168] [ENSMUST00000192295] [ENSMUST00000192447] [ENSMUST00000192503] [ENSMUST00000192512] [ENSMUST00000192631] [ENSMUST00000193389] [ENSMUST00000193777] [ENSMUST00000193839] [ENSMUST00000194038] [ENSMUST00000194544] [ENSMUST00000194751] [ENSMUST00000195590]
AlphaFold Q91Y19
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: ENSMUST00000115657
AA Change: K676R

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000111321
Gene: ENSMUSG00000102206
AA Change: K676R

DomainStartEndE-ValueType
CA 21 131 2.95e-2 SMART
CA 155 240 7.44e-19 SMART
CA 264 347 5.63e-28 SMART
CA 371 452 3.14e-26 SMART
CA 476 562 1.42e-24 SMART
CA 593 675 1.03e-12 SMART
transmembrane domain 697 719 N/A INTRINSIC
low complexity region 783 794 N/A INTRINSIC
low complexity region 918 942 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115658
SMART Domains Protein: ENSMUSP00000111322
Gene: ENSMUSG00000007440

DomainStartEndE-ValueType
low complexity region 15 21 N/A INTRINSIC
CA 46 132 6.34e-2 SMART
CA 156 241 4.65e-20 SMART
CA 265 349 1.25e-25 SMART
CA 373 454 9.22e-24 SMART
CA 478 564 4.3e-24 SMART
CA 595 678 5.07e-12 SMART
low complexity region 706 721 N/A INTRINSIC
Pfam:Cadherin_tail 795 929 5.3e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115659
SMART Domains Protein: ENSMUSP00000111323
Gene: ENSMUSG00000103770

DomainStartEndE-ValueType
low complexity region 44 51 N/A INTRINSIC
CA 75 161 2.46e-2 SMART
CA 185 270 8.1e-20 SMART
CA 294 378 1.69e-22 SMART
CA 402 483 1.52e-24 SMART
CA 507 593 5.68e-24 SMART
CA 624 705 6.69e-12 SMART
transmembrane domain 727 749 N/A INTRINSIC
Pfam:Cadherin_tail 828 962 5.6e-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 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: ENSMUST00000192447
AA Change: K676R

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000142270
Gene: ENSMUSG00000102206
AA Change: K676R

DomainStartEndE-ValueType
CA 21 131 1.5e-4 SMART
CA 155 240 3.6e-21 SMART
CA 264 347 2.8e-30 SMART
CA 371 452 1.5e-28 SMART
CA 476 562 6.8e-27 SMART
CA 593 675 4.9e-15 SMART
transmembrane domain 697 719 N/A INTRINSIC
low complexity region 783 794 N/A INTRINSIC
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 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: 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
Predicted Effect probably benign
Transcript: ENSMUST00000193389
SMART Domains Protein: ENSMUSP00000141459
Gene: ENSMUSG00000103707

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 benign
Transcript: ENSMUST00000193777
SMART Domains Protein: ENSMUSP00000141587
Gene: ENSMUSG00000103707

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: ENSMUST00000193856
Predicted Effect probably benign
Transcript: ENSMUST00000193984
Predicted Effect probably benign
Transcript: ENSMUST00000194038
SMART Domains Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800

DomainStartEndE-ValueType
CA 20 131 6.34e-2 SMART
CA 155 240 4.27e-19 SMART
CA 264 348 2.04e-25 SMART
CA 372 453 2.84e-24 SMART
CA 477 563 9.88e-24 SMART
CA 594 676 8.62e-15 SMART
transmembrane domain 699 721 N/A INTRINSIC
low complexity region 914 938 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: 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
Meta Mutation Damage Score 0.1591 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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 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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 A T 7: 132,476,685 (GRCm39) I142F probably damaging Het
Adamts16 A G 13: 70,984,496 (GRCm39) Y56H probably damaging Het
Alms1 A G 6: 85,618,357 (GRCm39) D2801G probably damaging Het
Anpep A G 7: 79,489,269 (GRCm39) I301T probably benign Het
Atxn7l2 G A 3: 108,114,285 (GRCm39) T159M probably benign Het
B130006D01Rik C T 11: 95,617,175 (GRCm39) probably benign Het
Btf3l4b C A 13: 96,217,432 (GRCm39) D136Y possibly damaging Het
Ccdc175 T C 12: 72,202,392 (GRCm39) K301R probably damaging Het
Cecr2 A T 6: 120,733,894 (GRCm39) Q627L probably benign Het
Cerkl C A 2: 79,172,751 (GRCm39) M307I probably benign Het
Eif2ak4 A G 2: 118,293,207 (GRCm39) I1254M probably damaging Het
Epha3 T C 16: 63,664,510 (GRCm39) T37A probably benign Het
Fancm T C 12: 65,171,931 (GRCm39) V1857A probably damaging Het
Gm3486 T C 14: 41,206,538 (GRCm39) probably null Het
Il1r2 T C 1: 40,162,416 (GRCm39) V353A probably damaging Het
Irgq A T 7: 24,233,715 (GRCm39) R519W probably damaging Het
Map1b T A 13: 99,652,950 (GRCm39) S16C probably damaging Het
Myo9a T G 9: 59,739,573 (GRCm39) C762G probably damaging Het
Nup107 A T 10: 117,606,374 (GRCm39) V454E probably damaging Het
Or10h5 A G 17: 33,434,868 (GRCm39) V150A probably benign Het
Or4p20 A T 2: 88,254,228 (GRCm39) I47N probably damaging Het
Or7g35 T G 9: 19,496,265 (GRCm39) L144R probably damaging Het
Pknox2 C T 9: 36,834,986 (GRCm39) R161H probably damaging Het
Prr5l T C 2: 101,547,430 (GRCm39) N365S probably benign Het
Prrg4 A G 2: 104,679,501 (GRCm39) L8P probably damaging Het
Rasgrp2 T A 19: 6,453,595 (GRCm39) probably null Het
Rtp4 A T 16: 23,428,827 (GRCm39) H30L probably benign Het
Rxfp2 T G 5: 149,993,834 (GRCm39) I632S possibly damaging Het
Spata31h1 A C 10: 82,126,314 (GRCm39) F2232C probably damaging Het
Sptbn1 C A 11: 30,070,758 (GRCm39) E1533D possibly damaging Het
Ssbp1 A G 6: 40,454,941 (GRCm39) I133M probably damaging Het
Stap1 A G 5: 86,242,602 (GRCm39) I188V possibly damaging Het
Topaz1 T C 9: 122,603,173 (GRCm39) M1040T probably benign Het
Trpm3 T C 19: 22,887,501 (GRCm39) F877L possibly damaging Het
Ush1c A G 7: 45,858,674 (GRCm39) L538P probably damaging Het
Zfp518a G A 19: 40,904,162 (GRCm39) A1364T probably benign Het
Other mutations in Pcdha11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01522:Pcdha11 APN 18 37,318,061 (GRCm39) missense probably damaging 1.00
IGL01843:Pcdha11 APN 18 37,145,886 (GRCm39) missense probably benign 0.28
R1165:Pcdha11 UTSW 18 37,140,757 (GRCm39) intron probably benign
R2422:Pcdha11 UTSW 18 37,140,325 (GRCm39) missense probably damaging 0.99
R2423:Pcdha11 UTSW 18 37,140,477 (GRCm39) missense possibly damaging 0.89
R2508:Pcdha11 UTSW 18 37,145,907 (GRCm39) missense possibly damaging 0.86
R3114:Pcdha11 UTSW 18 37,144,860 (GRCm39) missense probably damaging 1.00
R4173:Pcdha11 UTSW 18 37,145,676 (GRCm39) missense probably damaging 0.99
R4255:Pcdha11 UTSW 18 37,145,843 (GRCm39) missense probably benign 0.23
R4369:Pcdha11 UTSW 18 37,139,796 (GRCm39) missense possibly damaging 0.70
R4454:Pcdha11 UTSW 18 37,140,426 (GRCm39) missense probably benign 0.13
R4489:Pcdha11 UTSW 18 37,139,969 (GRCm39) missense possibly damaging 0.78
R4626:Pcdha11 UTSW 18 37,140,051 (GRCm39) missense probably damaging 1.00
R4751:Pcdha11 UTSW 18 37,139,997 (GRCm39) missense probably damaging 1.00
R4801:Pcdha11 UTSW 18 37,138,518 (GRCm39) missense probably damaging 1.00
R4802:Pcdha11 UTSW 18 37,138,518 (GRCm39) missense probably damaging 1.00
R4857:Pcdha11 UTSW 18 37,144,505 (GRCm39) missense probably benign 0.02
R4995:Pcdha11 UTSW 18 37,144,080 (GRCm39) missense probably benign 0.24
R5042:Pcdha11 UTSW 18 37,144,649 (GRCm39) missense probably damaging 1.00
R5480:Pcdha11 UTSW 18 37,138,935 (GRCm39) missense probably benign 0.04
R5495:Pcdha11 UTSW 18 37,144,079 (GRCm39) missense probably benign
R5523:Pcdha11 UTSW 18 37,145,439 (GRCm39) missense probably damaging 1.00
R5584:Pcdha11 UTSW 18 37,139,818 (GRCm39) missense probably damaging 1.00
R5682:Pcdha11 UTSW 18 37,144,502 (GRCm39) missense probably damaging 1.00
R5834:Pcdha11 UTSW 18 37,145,676 (GRCm39) missense probably damaging 0.99
R5842:Pcdha11 UTSW 18 37,144,337 (GRCm39) missense possibly damaging 0.85
R5859:Pcdha11 UTSW 18 37,140,336 (GRCm39) missense probably damaging 1.00
R6110:Pcdha11 UTSW 18 37,144,509 (GRCm39) missense probably damaging 1.00
R6135:Pcdha11 UTSW 18 37,138,870 (GRCm39) missense probably damaging 1.00
R6248:Pcdha11 UTSW 18 37,138,950 (GRCm39) missense probably benign 0.26
R6416:Pcdha11 UTSW 18 37,145,222 (GRCm39) splice site probably null
R6450:Pcdha11 UTSW 18 37,146,215 (GRCm39) missense probably damaging 1.00
R6594:Pcdha11 UTSW 18 37,144,235 (GRCm39) missense probably benign 0.04
R6631:Pcdha11 UTSW 18 37,138,844 (GRCm39) missense probably damaging 1.00
R6883:Pcdha11 UTSW 18 37,144,242 (GRCm39) missense probably damaging 1.00
R7088:Pcdha11 UTSW 18 37,138,470 (GRCm39) missense probably benign 0.00
R7129:Pcdha11 UTSW 18 37,140,291 (GRCm39) missense probably benign 0.45
R7153:Pcdha11 UTSW 18 37,144,278 (GRCm39) missense probably damaging 1.00
R7244:Pcdha11 UTSW 18 37,144,421 (GRCm39) nonsense probably null
R7295:Pcdha11 UTSW 18 37,139,979 (GRCm39) missense probably damaging 1.00
R7319:Pcdha11 UTSW 18 37,146,245 (GRCm39) missense probably benign 0.10
R7352:Pcdha11 UTSW 18 37,139,898 (GRCm39) missense probably damaging 1.00
R7516:Pcdha11 UTSW 18 37,144,671 (GRCm39) missense probably damaging 1.00
R7519:Pcdha11 UTSW 18 37,139,319 (GRCm39) nonsense probably null
R7660:Pcdha11 UTSW 18 37,138,904 (GRCm39) missense probably benign 0.17
R7677:Pcdha11 UTSW 18 37,144,605 (GRCm39) missense probably damaging 1.00
R7707:Pcdha11 UTSW 18 37,144,845 (GRCm39) missense probably benign 0.00
R7775:Pcdha11 UTSW 18 37,145,733 (GRCm39) missense possibly damaging 0.64
R7778:Pcdha11 UTSW 18 37,145,733 (GRCm39) missense possibly damaging 0.64
R7780:Pcdha11 UTSW 18 37,145,849 (GRCm39) missense probably damaging 0.97
R7916:Pcdha11 UTSW 18 37,140,441 (GRCm39) missense probably benign 0.01
R7991:Pcdha11 UTSW 18 37,145,909 (GRCm39) missense probably damaging 0.99
R8068:Pcdha11 UTSW 18 37,138,618 (GRCm39) missense probably damaging 1.00
R8220:Pcdha11 UTSW 18 37,139,624 (GRCm39) missense probably benign 0.01
R8252:Pcdha11 UTSW 18 37,140,590 (GRCm39) missense possibly damaging 0.65
R8392:Pcdha11 UTSW 18 37,139,212 (GRCm39) nonsense probably null
R8398:Pcdha11 UTSW 18 37,146,116 (GRCm39) missense possibly damaging 0.65
R8812:Pcdha11 UTSW 18 37,140,716 (GRCm39) missense probably benign 0.00
R8900:Pcdha11 UTSW 18 37,145,799 (GRCm39) missense probably damaging 1.00
R8968:Pcdha11 UTSW 18 37,145,307 (GRCm39) missense probably damaging 1.00
R9065:Pcdha11 UTSW 18 37,139,877 (GRCm39) missense possibly damaging 0.93
R9192:Pcdha11 UTSW 18 37,140,527 (GRCm39) missense probably benign 0.42
R9224:Pcdha11 UTSW 18 37,139,073 (GRCm39) missense probably damaging 0.99
R9228:Pcdha11 UTSW 18 37,144,512 (GRCm39) missense probably damaging 1.00
R9237:Pcdha11 UTSW 18 37,145,260 (GRCm39) missense probably damaging 1.00
R9336:Pcdha11 UTSW 18 37,144,514 (GRCm39) missense probably damaging 1.00
R9449:Pcdha11 UTSW 18 37,145,484 (GRCm39) missense probably damaging 1.00
R9475:Pcdha11 UTSW 18 37,140,591 (GRCm39) missense probably damaging 1.00
R9476:Pcdha11 UTSW 18 37,139,532 (GRCm39) missense probably benign 0.26
R9510:Pcdha11 UTSW 18 37,139,532 (GRCm39) missense probably benign 0.26
R9578:Pcdha11 UTSW 18 37,140,176 (GRCm39) missense probably damaging 1.00
R9654:Pcdha11 UTSW 18 37,145,333 (GRCm39) missense probably damaging 1.00
RF017:Pcdha11 UTSW 18 37,138,577 (GRCm39) missense possibly damaging 0.92
Z1177:Pcdha11 UTSW 18 37,145,976 (GRCm39) missense probably benign 0.43
Predicted Primers PCR Primer
(F):5'- CTGGTTACAATGCTTGGCTGTC -3'
(R):5'- CCAGTGGCCTCATTGACCATAG -3'

Sequencing Primer
(F):5'- CAATGCTTGGCTGTCATATGAAG -3'
(R):5'- CTCATTGACCATAGGCAATGCTGAG -3'
Posted On 2021-01-18