Incidental Mutation 'R4897:Pcdha7'
ID 375847
Institutional Source Beutler Lab
Gene Symbol Pcdha7
Ensembl Gene ENSMUSG00000104318
Gene Name protocadherin alpha 7
Synonyms Crnr4, Cnr4
MMRRC Submission 042501-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R4897 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37106864-37320716 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37108646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 557 (D557G)
Ref Sequence ENSEMBL: ENSMUSP00000142156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000115661] [ENSMUST00000115662] [ENSMUST00000192168] [ENSMUST00000192295] [ENSMUST00000192503] [ENSMUST00000192512] [ENSMUST00000192631] [ENSMUST00000194544] [ENSMUST00000194751] [ENSMUST00000193839] [ENSMUST00000193777] [ENSMUST00000193389] [ENSMUST00000195590]
AlphaFold Q91Y13
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 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 damaging
Transcript: ENSMUST00000192631
AA Change: D557G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142156
Gene: ENSMUSG00000104318
AA Change: D557G

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 noncoding transcript
Transcript: ENSMUST00000194501
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: 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: 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: 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: 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: ENSMUST00000193984
Meta Mutation Damage Score 0.5949 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 100% (79/79)
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]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik C A 2: 35,266,309 (GRCm39) M120I probably damaging Het
4933427D14Rik A T 11: 72,082,342 (GRCm39) L328Q probably damaging Het
Adgrv1 A C 13: 81,709,704 (GRCm39) probably null Het
Ankrd46 A T 15: 36,484,279 (GRCm39) probably benign Het
Arhgef18 A T 8: 3,494,979 (GRCm39) M413L probably benign Het
Atp6v1e1 G A 6: 120,781,044 (GRCm39) T87M probably null Het
Bap1 T C 14: 30,980,402 (GRCm39) probably benign Het
Brf1 A G 12: 112,929,507 (GRCm39) L385P probably benign Het
C1qtnf1 A T 11: 118,338,938 (GRCm39) N203Y probably damaging Het
Catsperb A T 12: 101,569,025 (GRCm39) N899I probably damaging Het
Ccnjl A C 11: 43,470,718 (GRCm39) D162A probably damaging Het
Cd248 A C 19: 5,119,195 (GRCm39) I348L probably benign Het
Cdc20 T C 4: 118,293,029 (GRCm39) T265A probably benign Het
Cdca5 T A 19: 6,140,427 (GRCm39) L196* probably null Het
Cdk4 T A 10: 126,900,444 (GRCm39) probably benign Het
Cldn10 G A 14: 119,025,725 (GRCm39) G53S possibly damaging Het
Clec4b2 G T 6: 123,177,999 (GRCm39) E105* probably null Het
Dapk1 T A 13: 60,909,600 (GRCm39) D1404E probably benign Het
Dnah1 T C 14: 30,989,496 (GRCm39) Y3308C probably damaging Het
Dnah17 A C 11: 117,969,419 (GRCm39) Y2260D probably damaging Het
Dock8 T G 19: 25,159,001 (GRCm39) S1720A probably benign Het
Erc1 A G 6: 119,754,947 (GRCm39) probably null Het
Ergic1 A G 17: 26,848,597 (GRCm39) I66V probably benign Het
Fam186a T C 15: 99,843,158 (GRCm39) T1029A possibly damaging Het
Fat4 A T 3: 39,034,781 (GRCm39) Y2811F probably damaging Het
Flt3 A G 5: 147,306,110 (GRCm39) M310T probably damaging Het
Ganab T A 19: 8,892,355 (GRCm39) C844S probably benign Het
Gas2l2 C A 11: 83,320,041 (GRCm39) V72F probably damaging Het
Gm14401 T A 2: 176,778,573 (GRCm39) C220S probably damaging Het
Hmmr A T 11: 40,619,261 (GRCm39) V73E probably benign Het
Idi2l T G 13: 8,990,637 (GRCm39) probably benign Het
Ifih1 G T 2: 62,465,358 (GRCm39) probably benign Het
Jak3 A G 8: 72,138,048 (GRCm39) E833G probably damaging Het
Lama2 TTTGCGCATT TTT 10: 26,919,639 (GRCm39) probably null Het
Ldb1 G A 19: 46,023,132 (GRCm39) A217V probably benign Het
Lrrc8c A G 5: 105,755,955 (GRCm39) T577A probably benign Het
Mfn1 T A 3: 32,600,711 (GRCm39) probably benign Het
Mki67 G A 7: 135,298,474 (GRCm39) P2187S probably damaging Het
Mrc1 T A 2: 14,323,952 (GRCm39) D1096E probably benign Het
Msi1 A G 5: 115,573,654 (GRCm39) probably benign Het
Msto1 T A 3: 88,819,559 (GRCm39) I152F probably benign Het
Myo9a A G 9: 59,803,800 (GRCm39) R2060G probably benign Het
Nnt A T 13: 119,541,107 (GRCm39) C44* probably null Het
Nup210l A G 3: 90,100,378 (GRCm39) D1468G probably damaging Het
Or1j16 T C 2: 36,530,906 (GRCm39) L285P probably damaging Het
Or4c10b A G 2: 89,711,476 (GRCm39) E102G probably benign Het
Or5d46 C A 2: 88,174,686 (GRCm39) C129F possibly damaging Het
Or7a40 T C 16: 16,491,482 (GRCm39) D121G probably damaging Het
P2rx3 G A 2: 84,855,270 (GRCm39) T62I probably damaging Het
Pabpc4l G T 3: 46,401,578 (GRCm39) T22K probably damaging Het
Pcdhb20 A G 18: 37,639,298 (GRCm39) K608R possibly damaging Het
Pcnx1 A G 12: 81,964,939 (GRCm39) S369G probably damaging Het
Plod1 T C 4: 148,004,736 (GRCm39) I455V probably benign Het
Prune2 A T 19: 17,099,219 (GRCm39) E1574D probably benign Het
Ptar1 T A 19: 23,680,472 (GRCm39) L96H probably damaging Het
Rabgap1 T C 2: 37,450,583 (GRCm39) S904P probably benign Het
Rps6ka4 C T 19: 6,815,467 (GRCm39) V176I probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Runx1t1 T A 4: 13,771,459 (GRCm39) M1K probably null Het
Serinc4 T A 2: 121,282,905 (GRCm39) Y419F probably damaging Het
Serpina12 A T 12: 104,004,056 (GRCm39) M192K possibly damaging Het
Spata21 T A 4: 140,832,261 (GRCm39) M474K probably damaging Het
Stpg1 T C 4: 135,246,676 (GRCm39) S135P possibly damaging Het
Tdrkh A G 3: 94,336,671 (GRCm39) D481G probably damaging Het
Ube2e1 A C 14: 18,285,268 (GRCm38) S68R probably damaging Het
Vcpip1 A C 1: 9,817,572 (GRCm39) N270K probably damaging Het
Vmn2r79 T C 7: 86,650,675 (GRCm39) F154L probably benign Het
Vwa3b A G 1: 37,153,684 (GRCm39) probably benign Het
Xdh C A 17: 74,207,703 (GRCm39) V885L probably benign Het
Zfp141 A T 7: 42,125,629 (GRCm39) V281D probably benign Het
Zfp317 T A 9: 19,558,143 (GRCm39) I119N probably benign Het
Zfp345 G A 2: 150,314,608 (GRCm39) R310C probably benign Het
Zfp760 G A 17: 21,942,229 (GRCm39) C468Y probably benign Het
Other mutations in Pcdha7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2511:Pcdha7 UTSW 18 37,107,786 (GRCm39) missense probably damaging 1.00
R3881:Pcdha7 UTSW 18 37,108,432 (GRCm39) missense probably benign 0.44
R4212:Pcdha7 UTSW 18 37,108,027 (GRCm39) missense probably benign 0.00
R4533:Pcdha7 UTSW 18 37,108,460 (GRCm39) missense possibly damaging 0.73
R4608:Pcdha7 UTSW 18 37,108,870 (GRCm39) missense possibly damaging 0.85
R4766:Pcdha7 UTSW 18 37,107,560 (GRCm39) missense probably damaging 0.99
R4808:Pcdha7 UTSW 18 37,107,281 (GRCm39) missense probably damaging 1.00
R5030:Pcdha7 UTSW 18 37,108,501 (GRCm39) missense probably damaging 1.00
R5173:Pcdha7 UTSW 18 37,107,705 (GRCm39) missense probably benign 0.03
R5333:Pcdha7 UTSW 18 37,107,619 (GRCm39) missense probably benign 0.14
R5342:Pcdha7 UTSW 18 37,107,724 (GRCm39) missense possibly damaging 0.74
R5463:Pcdha7 UTSW 18 37,108,628 (GRCm39) missense probably damaging 1.00
R5536:Pcdha7 UTSW 18 37,108,303 (GRCm39) missense probably damaging 1.00
R5848:Pcdha7 UTSW 18 37,108,136 (GRCm39) missense probably damaging 1.00
R5858:Pcdha7 UTSW 18 37,109,279 (GRCm39) missense probably damaging 0.99
R5887:Pcdha7 UTSW 18 37,108,960 (GRCm39) missense probably damaging 0.96
R6115:Pcdha7 UTSW 18 37,107,788 (GRCm39) missense probably damaging 0.99
R6496:Pcdha7 UTSW 18 37,107,638 (GRCm39) missense possibly damaging 0.86
R6522:Pcdha7 UTSW 18 37,106,995 (GRCm39) missense possibly damaging 0.74
R6653:Pcdha7 UTSW 18 37,107,539 (GRCm39) missense probably benign 0.01
R6815:Pcdha7 UTSW 18 37,108,174 (GRCm39) missense probably damaging 0.99
R7313:Pcdha7 UTSW 18 37,107,471 (GRCm39) missense probably damaging 1.00
R7519:Pcdha7 UTSW 18 37,109,285 (GRCm39) missense possibly damaging 0.93
R7520:Pcdha7 UTSW 18 37,108,366 (GRCm39) missense probably damaging 0.99
R7857:Pcdha7 UTSW 18 37,108,892 (GRCm39) missense probably damaging 0.99
R7939:Pcdha7 UTSW 18 37,109,063 (GRCm39) missense possibly damaging 0.68
R8229:Pcdha7 UTSW 18 37,107,776 (GRCm39) nonsense probably null
R9592:Pcdha7 UTSW 18 37,109,045 (GRCm39) missense probably benign 0.00
R9711:Pcdha7 UTSW 18 37,107,409 (GRCm39) missense probably damaging 1.00
Z1176:Pcdha7 UTSW 18 37,108,893 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- GTCAGCGATGGATGCTGATG -3'
(R):5'- CAACTGGCTGCAGCTCAAAAG -3'

Sequencing Primer
(F):5'- AGAATGCGCTGGTGTCCTACTC -3'
(R):5'- GACAACCACGCATTGTATCCAGAG -3'
Posted On 2016-03-17