Incidental Mutation 'R8129:Pcdha5'
ID 631936
Institutional Source Beutler Lab
Gene Symbol Pcdha5
Ensembl Gene ENSMUSG00000103092
Gene Name protocadherin alpha 5
Synonyms Cnr6, Crnr6
MMRRC Submission 067558-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.199) question?
Stock # R8129 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37093493-37320710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37094832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 447 (D447G)
Ref Sequence ENSEMBL: ENSMUSP00000142293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000115661] [ENSMUST00000115662] [ENSMUST00000192168] [ENSMUST00000192295] [ENSMUST00000192503] [ENSMUST00000192512] [ENSMUST00000193839] [ENSMUST00000195590]
AlphaFold Q91Y15
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 damaging
Transcript: ENSMUST00000192168
AA Change: D447G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142293
Gene: ENSMUSG00000103092
AA Change: D447G

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: 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: 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: 99.8%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 85.2%
Validation Efficiency 98% (99/101)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T C 2: 35,266,187 (GRCm39) D161G probably damaging Het
Adamts19 T C 18: 59,140,559 (GRCm39) probably null Het
Ahnak A T 19: 8,977,464 (GRCm39) M1L not run Het
Appl1 A G 14: 26,671,466 (GRCm39) S329P possibly damaging Het
Bach1 C T 16: 87,519,314 (GRCm39) R535W possibly damaging Het
Bicc1 T C 10: 70,915,033 (GRCm39) D77G probably benign Het
Bub1b T A 2: 118,468,975 (GRCm39) D913E probably benign Het
Cdhr2 G T 13: 54,864,208 (GRCm39) probably null Het
Col25a1 T C 3: 130,290,050 (GRCm39) S247P probably damaging Het
Commd8 T C 5: 72,320,164 (GRCm39) M126V unknown Het
Dpysl4 C T 7: 138,666,076 (GRCm39) T13M probably benign Het
Epc1 A G 18: 6,439,634 (GRCm39) V776A possibly damaging Het
Fancg G T 4: 43,005,036 (GRCm39) probably null Het
Fdx1 T C 9: 51,859,926 (GRCm39) T135A probably benign Het
Fgf7 T C 2: 125,877,765 (GRCm39) V44A probably benign Het
Fgfr3 A T 5: 33,891,250 (GRCm39) M523L probably damaging Het
Focad A T 4: 88,151,000 (GRCm39) H548L unknown Het
Ftsj3 C A 11: 106,144,657 (GRCm39) V111F probably benign Het
Gm28168 T A 1: 117,857,483 (GRCm39) D12E probably damaging Het
Gprin3 T C 6: 59,330,844 (GRCm39) T488A probably benign Het
Hormad2 C A 11: 4,296,648 (GRCm39) V279L probably benign Het
Hs6st1 A G 1: 36,108,105 (GRCm39) K123E probably damaging Het
Ice1 A G 13: 70,754,320 (GRCm39) S589P probably benign Het
Il1r1 T A 1: 40,341,447 (GRCm39) H286Q probably benign Het
Il1rl1 T A 1: 40,490,987 (GRCm39) C423S probably damaging Het
L1td1 A T 4: 98,621,563 (GRCm39) M42L probably benign Het
Large1 T C 8: 73,542,585 (GRCm39) D713G probably damaging Het
Llgl2 C A 11: 115,741,737 (GRCm39) probably null Het
Lrp2 C T 2: 69,260,624 (GRCm39) V4536M possibly damaging Het
Map3k19 A C 1: 127,750,420 (GRCm39) L977R possibly damaging Het
Myo15a A T 11: 60,399,026 (GRCm39) D1617V Het
Nek3 A G 8: 22,639,908 (GRCm39) I189T probably damaging Het
Nrap C T 19: 56,355,068 (GRCm39) probably null Het
Omd A C 13: 49,745,565 (GRCm39) D325A probably damaging Het
Or1x6 G A 11: 50,939,210 (GRCm39) R92K probably benign Het
Or4a76 C A 2: 89,460,792 (GRCm39) G150V probably damaging Het
Or52h7 A G 7: 104,213,584 (GRCm39) Y52C probably benign Het
Or5b118 A T 19: 13,448,508 (GRCm39) Y16F probably damaging Het
Pabpc6 C T 17: 9,887,427 (GRCm39) V375I possibly damaging Het
Pla2r1 A T 2: 60,262,944 (GRCm39) W1032R probably damaging Het
Ppp2r5d T C 17: 46,995,263 (GRCm39) Y524C probably benign Het
Ppp4r3b T C 11: 29,159,364 (GRCm39) Y573H probably damaging Het
Prune2 T C 19: 17,096,200 (GRCm39) I568T probably benign Het
Ptpn22 G A 3: 103,797,600 (GRCm39) probably null Het
Rbm12b1 A G 4: 12,145,549 (GRCm39) D507G probably damaging Het
Rdh7 A G 10: 127,723,370 (GRCm39) S162P probably benign Het
Rreb1 C T 13: 38,113,775 (GRCm39) A378V probably benign Het
Scaf11 A G 15: 96,317,350 (GRCm39) F738S probably damaging Het
Sdk1 C A 5: 142,177,648 (GRCm39) N2031K probably benign Het
Serpina3c A T 12: 104,118,056 (GRCm39) L94Q probably damaging Het
Sgo2b T C 8: 64,381,834 (GRCm39) S333G possibly damaging Het
Slc22a15 A G 3: 101,822,658 (GRCm39) V88A possibly damaging Het
Smarcad1 G T 6: 65,044,078 (GRCm39) D217Y probably benign Het
Sppl2a A G 2: 126,765,390 (GRCm39) F244S probably damaging Het
Sspo G A 6: 48,443,959 (GRCm39) D2156N possibly damaging Het
Taf2 G A 15: 54,923,384 (GRCm39) R298C probably damaging Het
Tap2 C T 17: 34,424,672 (GRCm39) T135I probably benign Het
Tbx15 G T 3: 99,161,254 (GRCm39) V20F probably damaging Het
Tes A T 6: 17,065,242 (GRCm39) probably benign Het
Tmem39b A T 4: 129,572,468 (GRCm39) M378K probably damaging Het
Trim44 A G 2: 102,230,848 (GRCm39) V61A unknown Het
Ttll5 T C 12: 85,937,858 (GRCm39) probably null Het
Tubgcp4 C T 2: 121,004,109 (GRCm39) T50I possibly damaging Het
Txndc17 G A 11: 72,098,588 (GRCm39) V47M probably damaging Het
Ubp1 A G 9: 113,804,417 (GRCm39) E494G possibly damaging Het
Utp20 A T 10: 88,628,487 (GRCm39) S936T probably benign Het
Wdr64 A G 1: 175,603,154 (GRCm39) D585G probably damaging Het
Wdtc1 A T 4: 133,031,460 (GRCm39) probably null Het
Zfp292 A G 4: 34,807,386 (GRCm39) M1891T probably damaging Het
Zfp84 A C 7: 29,475,862 (GRCm39) I185L probably benign Het
Zmym4 A G 4: 126,808,956 (GRCm39) F364L possibly damaging Het
Other mutations in Pcdha5
AlleleSourceChrCoordTypePredicted EffectPPH Score
tarantula UTSW 18 37,094,474 (GRCm39) missense probably benign 0.00
R2483:Pcdha5 UTSW 18 37,094,834 (GRCm39) missense probably damaging 1.00
R2483:Pcdha5 UTSW 18 37,094,542 (GRCm39) missense probably benign
R2888:Pcdha5 UTSW 18 37,094,940 (GRCm39) missense probably damaging 1.00
R2907:Pcdha5 UTSW 18 37,093,868 (GRCm39) missense possibly damaging 0.59
R2981:Pcdha5 UTSW 18 37,094,529 (GRCm39) missense probably damaging 1.00
R4468:Pcdha5 UTSW 18 37,095,233 (GRCm39) missense probably benign 0.08
R4724:Pcdha5 UTSW 18 37,094,549 (GRCm39) missense possibly damaging 0.61
R5280:Pcdha5 UTSW 18 37,094,755 (GRCm39) nonsense probably null
R5412:Pcdha5 UTSW 18 37,095,510 (GRCm39) missense probably benign 0.29
R5731:Pcdha5 UTSW 18 37,093,820 (GRCm39) missense probably damaging 1.00
R5783:Pcdha5 UTSW 18 37,095,534 (GRCm39) missense probably benign 0.00
R5865:Pcdha5 UTSW 18 37,094,474 (GRCm39) missense probably benign 0.00
R5984:Pcdha5 UTSW 18 37,094,733 (GRCm39) missense probably damaging 1.00
R6498:Pcdha5 UTSW 18 37,095,768 (GRCm39) missense possibly damaging 0.52
R6719:Pcdha5 UTSW 18 37,093,925 (GRCm39) missense probably damaging 1.00
R7084:Pcdha5 UTSW 18 37,094,615 (GRCm39) missense probably benign 0.08
R7113:Pcdha5 UTSW 18 37,094,757 (GRCm39) missense probably benign
R7432:Pcdha5 UTSW 18 37,095,379 (GRCm39) missense probably benign 0.07
R7507:Pcdha5 UTSW 18 37,093,909 (GRCm39) missense probably benign 0.01
R7515:Pcdha5 UTSW 18 37,095,171 (GRCm39) missense probably damaging 1.00
R7642:Pcdha5 UTSW 18 37,093,544 (GRCm39) missense probably benign 0.00
R7815:Pcdha5 UTSW 18 37,094,556 (GRCm39) missense possibly damaging 0.63
R8132:Pcdha5 UTSW 18 37,093,694 (GRCm39) missense possibly damaging 0.83
R8139:Pcdha5 UTSW 18 37,095,791 (GRCm39) missense possibly damaging 0.69
R8469:Pcdha5 UTSW 18 37,094,798 (GRCm39) missense probably benign 0.02
R9533:Pcdha5 UTSW 18 37,093,986 (GRCm39) missense probably damaging 1.00
R9700:Pcdha5 UTSW 18 37,094,447 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- CTGATTAGCGTGTCAGATCGTG -3'
(R):5'- GTGCACAGACACATAGCTCG -3'

Sequencing Primer
(F):5'- AGGTGACCTGCTCCTTGACAC -3'
(R):5'- GCTGACACCGTGAAGAT -3'
Posted On 2020-06-30