Incidental Mutation 'R5584:Pcdha11'
ID 438639
Institutional Source Beutler Lab
Gene Symbol Pcdha11
Ensembl Gene ENSMUSG00000102206
Gene Name protocadherin alpha 11
Synonyms A830022B16Rik, Cnr7, Crnr7
MMRRC Submission 043138-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R5584 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37143911-37320710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 37139818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 482 (D482E)
Ref Sequence ENSEMBL: ENSMUSP00000111322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000115657] [ENSMUST00000115658] [ENSMUST00000115659] [ENSMUST00000115661] [ENSMUST00000115662] [ENSMUST00000193839] [ENSMUST00000192503] [ENSMUST00000194038] [ENSMUST00000194544] [ENSMUST00000192168] [ENSMUST00000193389] [ENSMUST00000192631] [ENSMUST00000192512] [ENSMUST00000193777] [ENSMUST00000192295] [ENSMUST00000192447] [ENSMUST00000195590] [ENSMUST00000194751]
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 noncoding transcript
Transcript: ENSMUST00000097612
Predicted Effect probably benign
Transcript: ENSMUST00000115657
SMART Domains Protein: ENSMUSP00000111321
Gene: ENSMUSG00000102206

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 damaging
Transcript: ENSMUST00000115658
AA Change: D482E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111322
Gene: ENSMUSG00000007440
AA Change: D482E

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 noncoding transcript
Transcript: ENSMUST00000194691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194050
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: 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: 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: ENSMUST00000193984
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: 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: 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: 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: 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: 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
SMART Domains Protein: ENSMUSP00000142270
Gene: ENSMUSG00000102206

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: 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: 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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 97.0%
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 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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,553,386 (GRCm39) G5496D probably damaging Het
Akr1c19 A T 13: 4,293,031 (GRCm39) Q262H probably damaging Het
Cntn5 T C 9: 9,661,457 (GRCm39) T1070A possibly damaging Het
Efcab14 T C 4: 115,621,794 (GRCm39) V358A possibly damaging Het
Epb41l4a G T 18: 33,987,324 (GRCm39) T351N probably damaging Het
Etaa1 A T 11: 17,897,406 (GRCm39) V237E possibly damaging Het
Ezh2 A T 6: 47,508,950 (GRCm39) N684K probably damaging Het
Flnc A G 6: 29,446,627 (GRCm39) T946A probably damaging Het
Fstl5 T A 3: 76,229,574 (GRCm39) I125N probably damaging Het
Gcsam A C 16: 45,440,226 (GRCm39) I90L probably benign Het
Glrx T A 13: 75,995,341 (GRCm39) I87N probably benign Het
Hivep1 T A 13: 42,313,593 (GRCm39) N1944K probably benign Het
Lrp2 T C 2: 69,281,632 (GRCm39) D3913G probably damaging Het
Ltb4r1 T A 14: 56,004,844 (GRCm39) M49K possibly damaging Het
Mbip A G 12: 56,382,647 (GRCm39) I273T probably damaging Het
Mis18bp1 A T 12: 65,201,550 (GRCm39) S384T probably damaging Het
Nlrp4e T G 7: 23,020,602 (GRCm39) I363S probably benign Het
Nrg3 CCCGCCGCCGCCGCCGCCGC CCCGCCGCCGCCGCCGC 14: 39,194,654 (GRCm39) probably benign Het
Plppr3 T C 10: 79,702,286 (GRCm39) Y262C probably damaging Het
Ppip5k2 T C 1: 97,678,366 (GRCm39) K284E probably damaging Het
Rabggta T C 14: 55,958,289 (GRCm39) N124S probably benign Het
Rbm46 C A 3: 82,771,465 (GRCm39) M383I probably benign Het
Rfx1 G A 8: 84,814,706 (GRCm39) probably null Het
Sema3d T C 5: 12,615,975 (GRCm39) V493A possibly damaging Het
Sema3d T C 5: 12,620,954 (GRCm39) V520A possibly damaging Het
Sis C G 3: 72,817,748 (GRCm39) W1488C probably damaging Het
Slc6a20a A G 9: 123,469,753 (GRCm39) F411S probably damaging Het
Srcap T A 7: 127,127,651 (GRCm39) N405K probably damaging Het
Thnsl1 C T 2: 21,218,223 (GRCm39) P138L probably damaging Het
Trim27 T A 13: 21,376,719 (GRCm39) I489N probably damaging Het
Triobp G A 15: 78,852,332 (GRCm39) V829I possibly damaging Het
Unc119 A G 11: 78,239,396 (GRCm39) D217G probably damaging Het
Ushbp1 T C 8: 71,843,623 (GRCm39) T272A possibly damaging Het
Zfpm2 A T 15: 40,965,933 (GRCm39) N806I probably benign Het
Znrf3 T C 11: 5,236,218 (GRCm39) E164G probably damaging 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
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
R8470:Pcdha11 UTSW 18 37,145,937 (GRCm39) missense probably benign 0.07
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'- CAGCTGACTATAAAGTGGTGGTG -3'
(R):5'- AGAGTCACATTGCTGCCCAG -3'

Sequencing Primer
(F):5'- TGGTGACAGCCCGGGATG -3'
(R):5'- GGCACACCAGCATCCTTCG -3'
Posted On 2016-10-26