Incidental Mutation 'R0062:Pcdha1'
ID 16261
Institutional Source Beutler Lab
Gene Symbol Pcdha1
Ensembl Gene ENSMUSG00000103442
Gene Name protocadherin alpha 1
Synonyms
MMRRC Submission 038354-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0062 (G1)
Quality Score
Status Validated
Chromosome 18
Chromosomal Location 37063338-37320710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37139681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 437 (W437R)
Ref Sequence ENSEMBL: ENSMUSP00000111322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000115657] [ENSMUST00000115658] [ENSMUST00000115659] [ENSMUST00000115661] [ENSMUST00000115662] [ENSMUST00000193839] [ENSMUST00000192168] [ENSMUST00000192631] [ENSMUST00000192503] [ENSMUST00000194038] [ENSMUST00000194544] [ENSMUST00000192512] [ENSMUST00000192295] [ENSMUST00000193389] [ENSMUST00000193777] [ENSMUST00000192447] [ENSMUST00000194751] [ENSMUST00000195590]
AlphaFold Q91Y21
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 benign
Transcript: ENSMUST00000115658
AA Change: W437R

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000111322
Gene: ENSMUSG00000007440
AA Change: W437R

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: 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: 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: 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: 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: 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: 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: 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: 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 0.0898 question?
Coding Region Coverage
  • 1x: 90.3%
  • 3x: 88.1%
  • 10x: 83.4%
  • 20x: 77.5%
Validation Efficiency 91% (72/79)
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]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513I03Rik G T 10: 120,614,511 (GRCm39) probably benign Het
Abi2 T A 1: 60,492,884 (GRCm39) N182K probably benign Het
Adam25 A T 8: 41,207,829 (GRCm39) H365L probably damaging Het
Ankfy1 T A 11: 72,603,030 (GRCm39) Y20N probably damaging Het
Arhgef28 A T 13: 98,093,150 (GRCm39) I977N possibly damaging Het
Cacna1b A G 2: 24,648,343 (GRCm39) Y161H probably damaging Het
Cacna1c T C 6: 118,579,198 (GRCm39) D1480G probably damaging Het
Chl1 A T 6: 103,726,613 (GRCm39) Y1143F unknown Het
Clk3 A G 9: 57,659,449 (GRCm39) M533T probably damaging Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Cnbd1 A G 4: 18,860,504 (GRCm39) I414T possibly damaging Het
Commd3 A T 2: 18,679,514 (GRCm39) probably null Het
Dnah8 T A 17: 30,984,685 (GRCm39) F3128I probably damaging Het
Dock1 A G 7: 134,379,224 (GRCm39) probably null Het
Dpysl3 C T 18: 43,466,941 (GRCm39) probably null Het
Ebf2 T A 14: 67,475,989 (GRCm39) probably benign Het
F830045P16Rik T C 2: 129,305,624 (GRCm39) E250G possibly damaging Het
Fmn2 A T 1: 174,436,015 (GRCm39) probably benign Het
Fryl T C 5: 73,179,621 (GRCm39) I2929V probably benign Het
Gm11232 T A 4: 71,675,112 (GRCm39) Q130L possibly damaging Het
Gna15 A G 10: 81,348,239 (GRCm39) probably null Het
Gtf3c5 T C 2: 28,462,198 (GRCm39) probably benign Het
Irs2 G A 8: 11,055,723 (GRCm39) T903I possibly damaging Het
Itga2 G A 13: 115,007,032 (GRCm39) S432L possibly damaging Het
Izumo1 A G 7: 45,276,621 (GRCm39) T395A probably benign Het
Kcnd2 G A 6: 21,727,225 (GRCm39) V593M possibly damaging Het
Kprp T C 3: 92,731,989 (GRCm39) S354G probably damaging Het
Krt72 T C 15: 101,694,443 (GRCm39) K151E probably damaging Het
Letm2 A T 8: 26,077,464 (GRCm39) probably benign Het
Lipe A G 7: 25,097,874 (GRCm39) V23A possibly damaging Het
Mcc C G 18: 44,652,583 (GRCm39) probably benign Het
Mthfd1 G A 12: 76,344,363 (GRCm39) probably benign Het
Nbeal1 C A 1: 60,286,876 (GRCm39) N899K probably benign Het
Odad2 T A 18: 7,129,593 (GRCm39) probably benign Het
Or10ak14 T C 4: 118,611,100 (GRCm39) I212V probably benign Het
Or4c118 T C 2: 88,974,966 (GRCm39) I134V possibly damaging Het
Pcdhga11 T G 18: 37,941,528 (GRCm39) I643S probably benign Het
Pik3r6 T A 11: 68,419,635 (GRCm39) Y149N probably damaging Het
Pja2 C A 17: 64,615,966 (GRCm39) V310L probably damaging Het
Ripor3 A G 2: 167,826,358 (GRCm39) probably benign Het
Rpa2 C A 4: 132,505,125 (GRCm39) N251K probably damaging Het
Rttn T C 18: 89,029,090 (GRCm39) probably null Het
Ryr2 C T 13: 11,884,002 (GRCm39) probably null Het
Scara3 T C 14: 66,168,417 (GRCm39) N400S probably damaging Het
Slc8b1 T A 5: 120,659,928 (GRCm39) probably null Het
Slco1a4 G A 6: 141,765,205 (GRCm39) Q346* probably null Het
Stk32b A G 5: 37,618,792 (GRCm39) S229P probably damaging Het
Syde2 A G 3: 145,704,508 (GRCm39) R487G probably benign Het
Tbc1d2b T C 9: 90,104,355 (GRCm39) probably benign Het
Ticrr T C 7: 79,317,654 (GRCm39) V396A probably benign Het
Trrap T C 5: 144,719,003 (GRCm39) probably benign Het
Vps13a A T 19: 16,646,054 (GRCm39) H1994Q probably damaging Het
Wdr36 T G 18: 32,997,802 (GRCm39) V820G possibly damaging Het
Wdr83 G A 8: 85,806,456 (GRCm39) T114I possibly damaging Het
Zfc3h1 A G 10: 115,252,658 (GRCm39) K1324E probably benign Het
Other mutations in Pcdha1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00714:Pcdha1 APN 18 37,065,228 (GRCm39) missense probably damaging 0.99
R0108:Pcdha1 UTSW 18 37,131,809 (GRCm39) missense probably benign
R0543:Pcdha1 UTSW 18 37,318,121 (GRCm39) missense probably damaging 1.00
R1599:Pcdha1 UTSW 18 37,318,290 (GRCm39) missense probably damaging 1.00
R1717:Pcdha1 UTSW 18 37,065,237 (GRCm39) missense probably benign 0.01
R2301:Pcdha1 UTSW 18 37,289,236 (GRCm39) missense probably damaging 1.00
R3038:Pcdha1 UTSW 18 37,064,064 (GRCm39) missense probably damaging 1.00
R3086:Pcdha1 UTSW 18 37,064,001 (GRCm39) missense possibly damaging 0.95
R3693:Pcdha1 UTSW 18 37,065,361 (GRCm39) missense possibly damaging 0.95
R3783:Pcdha1 UTSW 18 37,063,855 (GRCm39) missense probably damaging 1.00
R3881:Pcdha1 UTSW 18 37,064,454 (GRCm39) missense possibly damaging 0.91
R4012:Pcdha1 UTSW 18 37,064,189 (GRCm39) missense probably benign 0.02
R4540:Pcdha1 UTSW 18 37,064,680 (GRCm39) missense probably damaging 1.00
R4597:Pcdha1 UTSW 18 37,064,959 (GRCm39) missense possibly damaging 0.64
R4678:Pcdha1 UTSW 18 37,063,965 (GRCm39) missense probably benign 0.00
R4998:Pcdha1 UTSW 18 37,065,469 (GRCm39) missense probably damaging 1.00
R5466:Pcdha1 UTSW 18 37,065,312 (GRCm39) missense possibly damaging 0.73
R5518:Pcdha1 UTSW 18 37,065,415 (GRCm39) missense probably benign 0.23
R5673:Pcdha1 UTSW 18 37,063,726 (GRCm39) missense probably damaging 1.00
R5925:Pcdha1 UTSW 18 37,063,724 (GRCm39) missense probably damaging 1.00
R5942:Pcdha1 UTSW 18 37,063,444 (GRCm39) missense probably damaging 1.00
R5963:Pcdha1 UTSW 18 37,064,224 (GRCm39) missense probably damaging 0.99
R6034:Pcdha1 UTSW 18 37,063,651 (GRCm39) missense probably damaging 1.00
R6034:Pcdha1 UTSW 18 37,063,651 (GRCm39) missense probably damaging 1.00
R6107:Pcdha1 UTSW 18 37,065,354 (GRCm39) missense probably benign 0.00
R6329:Pcdha1 UTSW 18 37,065,301 (GRCm39) missense probably damaging 1.00
R6479:Pcdha1 UTSW 18 37,064,509 (GRCm39) missense probably benign 0.28
R6503:Pcdha1 UTSW 18 37,064,724 (GRCm39) missense probably damaging 1.00
R6907:Pcdha1 UTSW 18 37,064,124 (GRCm39) missense probably benign 0.01
R7011:Pcdha1 UTSW 18 37,063,588 (GRCm39) missense probably damaging 1.00
R7030:Pcdha1 UTSW 18 37,292,326 (GRCm39) missense probably damaging 0.97
R7314:Pcdha1 UTSW 18 37,064,553 (GRCm39) missense probably damaging 0.99
R7343:Pcdha1 UTSW 18 37,063,702 (GRCm39) missense probably damaging 1.00
R7699:Pcdha1 UTSW 18 37,064,115 (GRCm39) missense probably damaging 0.98
R7700:Pcdha1 UTSW 18 37,064,115 (GRCm39) missense probably damaging 0.98
R7768:Pcdha1 UTSW 18 37,065,220 (GRCm39) missense probably damaging 1.00
R7780:Pcdha1 UTSW 18 37,065,511 (GRCm39) missense probably benign 0.28
R7800:Pcdha1 UTSW 18 37,064,426 (GRCm39) missense probably damaging 1.00
R7917:Pcdha1 UTSW 18 37,065,254 (GRCm39) missense possibly damaging 0.64
R8325:Pcdha1 UTSW 18 37,063,867 (GRCm39) missense possibly damaging 0.47
R8699:Pcdha1 UTSW 18 37,064,076 (GRCm39) missense probably benign 0.00
R9400:Pcdha1 UTSW 18 37,064,760 (GRCm39) missense probably benign 0.43
R9513:Pcdha1 UTSW 18 37,065,286 (GRCm39) missense probably benign 0.26
R9746:Pcdha1 UTSW 18 37,065,713 (GRCm39) missense probably benign
Posted On 2013-01-20