Incidental Mutation 'R2011:Pcdh7'
ID 219654
Institutional Source Beutler Lab
Gene Symbol Pcdh7
Ensembl Gene ENSMUSG00000029108
Gene Name protocadherin 7
Synonyms BH-protocadherin
MMRRC Submission 040020-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R2011 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 57875309-58290572 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57876971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 175 (N175K)
Ref Sequence ENSEMBL: ENSMUSP00000092376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068110] [ENSMUST00000094783] [ENSMUST00000191837] [ENSMUST00000199310]
AlphaFold A0A0A6YY83
Predicted Effect probably damaging
Transcript: ENSMUST00000068110
AA Change: N175K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066306
Gene: ENSMUSG00000029108
AA Change: N175K

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
CA 48 141 7.29e-4 SMART
CA 165 306 1.13e-18 SMART
CA 330 413 2.12e-23 SMART
CA 445 533 1.53e-20 SMART
CA 557 637 1.36e-26 SMART
CA 661 740 2.38e-26 SMART
CA 766 847 2.01e-15 SMART
transmembrane domain 878 900 N/A INTRINSIC
low complexity region 929 944 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000094783
AA Change: N175K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092376
Gene: ENSMUSG00000029108
AA Change: N175K

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
CA 48 141 7.29e-4 SMART
CA 165 306 1.13e-18 SMART
CA 330 413 2.12e-23 SMART
CA 445 533 1.53e-20 SMART
CA 557 637 1.36e-26 SMART
CA 661 740 2.38e-26 SMART
CA 766 847 2.01e-15 SMART
transmembrane domain 878 900 N/A INTRINSIC
low complexity region 929 944 N/A INTRINSIC
low complexity region 1088 1099 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180708
Predicted Effect probably damaging
Transcript: ENSMUST00000191837
AA Change: N175K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: N175K

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
CA 48 141 7.29e-4 SMART
CA 165 306 1.13e-18 SMART
CA 330 413 2.12e-23 SMART
CA 445 533 1.53e-20 SMART
CA 557 637 1.36e-26 SMART
CA 661 740 2.38e-26 SMART
CA 766 847 2.01e-15 SMART
transmembrane domain 878 900 N/A INTRINSIC
low complexity region 929 944 N/A INTRINSIC
low complexity region 1088 1099 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192048
Predicted Effect probably benign
Transcript: ENSMUST00000192287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200266
Predicted Effect probably benign
Transcript: ENSMUST00000195156
Predicted Effect probably benign
Transcript: ENSMUST00000199310
SMART Domains Protein: ENSMUSP00000143387
Gene: ENSMUSG00000029108

DomainStartEndE-ValueType
Pfam:Protocadherin 1 79 5.1e-40 PFAM
low complexity region 112 123 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd6 A T 14: 8,042,742 (GRCm38) T100S probably benign Het
Adam6a T C 12: 113,508,998 (GRCm39) I457T probably benign Het
Aff3 T C 1: 38,246,996 (GRCm39) N863S probably benign Het
Agk C A 6: 40,353,168 (GRCm39) D177E probably benign Het
Alg9 C T 9: 50,699,500 (GRCm39) A209V probably damaging Het
Arl6 A T 16: 59,444,676 (GRCm39) I51K probably damaging Het
Bpi A T 2: 158,103,272 (GRCm39) H89L probably damaging Het
C1qtnf1 T A 11: 118,339,110 (GRCm39) F260Y probably benign Het
Cblc T A 7: 19,518,747 (GRCm39) D452V probably benign Het
Ccar1 T C 10: 62,612,473 (GRCm39) T231A probably benign Het
Ccdc112 A G 18: 46,420,499 (GRCm39) L417P probably damaging Het
Ccdc34 G A 2: 109,874,649 (GRCm39) R336Q possibly damaging Het
CK137956 A G 4: 127,844,829 (GRCm39) S305P probably benign Het
Clip2 T C 5: 134,531,969 (GRCm39) D612G probably damaging Het
Col28a1 T C 6: 8,059,360 (GRCm39) T692A probably benign Het
Copg2 A T 6: 30,793,676 (GRCm39) probably null Het
Ctnna2 T A 6: 76,950,774 (GRCm39) I566F possibly damaging Het
Cux2 C T 5: 121,999,389 (GRCm39) D1184N probably benign Het
Dclk3 A G 9: 111,297,422 (GRCm39) E322G probably benign Het
Ddx41 A T 13: 55,681,906 (GRCm39) probably null Het
Dnaaf2 G A 12: 69,243,559 (GRCm39) P107S probably damaging Het
Eif2ak4 A G 2: 118,261,428 (GRCm39) E578G probably damaging Het
Exd1 A G 2: 119,359,144 (GRCm39) probably benign Het
Fat2 G A 11: 55,173,583 (GRCm39) P2377S probably damaging Het
Fbxl18 T C 5: 142,858,214 (GRCm39) T741A probably benign Het
Fgr C A 4: 132,724,832 (GRCm39) A311E probably damaging Het
Fmo4 T C 1: 162,626,458 (GRCm39) T363A probably damaging Het
Fsbp T C 4: 11,584,006 (GRCm39) V235A probably benign Het
Gm1110 T A 9: 26,805,554 (GRCm39) H366L probably benign Het
Gm43302 T C 5: 105,438,846 (GRCm39) N14S probably damaging Het
Gm5422 A G 10: 31,124,764 (GRCm39) noncoding transcript Het
Gm57858 A T 3: 36,064,827 (GRCm39) C515* probably null Het
Gpr21 A G 2: 37,407,547 (GRCm39) E31G probably damaging Het
Gucy1b2 G T 14: 62,646,207 (GRCm39) N560K probably damaging Het
Hmcn1 T C 1: 150,553,085 (GRCm39) Q2535R probably benign Het
Hnrnpm A T 17: 33,883,598 (GRCm39) N264K probably damaging Het
Hyal6 A T 6: 24,734,723 (GRCm39) I219L possibly damaging Het
Ifi211 A G 1: 173,735,169 (GRCm39) S87P probably damaging Het
Il17rb A T 14: 29,718,797 (GRCm39) C428* probably null Het
Iqca1 T C 1: 89,973,348 (GRCm39) N808S probably benign Het
Kcnu1 A G 8: 26,408,470 (GRCm39) I94V probably benign Het
Lrba A T 3: 86,217,324 (GRCm39) E517V probably damaging Het
Mcidas A G 13: 113,130,515 (GRCm39) E37G possibly damaging Het
Med23 T A 10: 24,755,653 (GRCm39) F83L possibly damaging Het
Micu2 T C 14: 58,191,590 (GRCm39) probably null Het
Mrgprx2 A T 7: 48,132,282 (GRCm39) C179S probably damaging Het
Myo6 A G 9: 80,215,004 (GRCm39) T1236A probably damaging Het
Myo7a A T 7: 97,703,915 (GRCm39) V1946E possibly damaging Het
Nek10 A T 14: 14,885,122 (GRCm38) Y695F probably damaging Het
Nr3c2 A T 8: 77,636,422 (GRCm39) I508F possibly damaging Het
Or11g27 T C 14: 50,771,141 (GRCm39) S91P probably damaging Het
Or14a260 A T 7: 85,984,955 (GRCm39) Y216* probably null Het
Or2ag13 T C 7: 106,472,634 (GRCm39) I273V probably benign Het
Or5w1b A T 2: 87,476,233 (GRCm39) I78N probably damaging Het
Or8k23 A T 2: 86,186,530 (GRCm39) H65Q possibly damaging Het
Or9s13 T C 1: 92,548,471 (GRCm39) V281A probably benign Het
Oxct1 T C 15: 4,183,243 (GRCm39) S485P probably benign Het
Oxt A G 2: 130,418,572 (GRCm39) D61G probably damaging Het
P2ry10 A C X: 106,146,241 (GRCm39) I59L probably damaging Het
Parp11 A G 6: 127,454,854 (GRCm39) N124S probably benign Het
Pdgfrb T A 18: 61,194,566 (GRCm39) S114R probably benign Het
Pfdn5 A G 15: 102,234,956 (GRCm39) N54S possibly damaging Het
Phc2 T A 4: 128,617,378 (GRCm39) V468E probably benign Het
Piezo2 T C 18: 63,192,815 (GRCm39) T1605A probably damaging Het
Pik3cb A T 9: 98,987,632 (GRCm39) Y35* probably null Het
Piwil2 A T 14: 70,664,083 (GRCm39) M22K probably damaging Het
Plag1 A G 4: 3,904,889 (GRCm39) F101L probably damaging Het
Pomt2 A G 12: 87,158,173 (GRCm39) L680P possibly damaging Het
Ppp1r36 A G 12: 76,465,700 (GRCm39) probably null Het
Prkag2 C T 5: 25,076,052 (GRCm39) probably null Het
Prkg1 T C 19: 31,641,542 (GRCm39) D47G possibly damaging Het
Prl6a1 G A 13: 27,499,352 (GRCm39) G45D probably benign Het
Rbm20 G A 19: 53,847,859 (GRCm39) C1135Y probably damaging Het
Recql5 A T 11: 115,787,923 (GRCm39) N465K probably benign Het
Rlig1 T G 10: 100,419,820 (GRCm39) D58A probably damaging Het
Rtcb A T 10: 85,777,797 (GRCm39) I459N probably damaging Het
Rtp3 A T 9: 110,815,102 (GRCm39) probably benign Het
Rundc3b T A 5: 8,562,409 (GRCm39) probably null Het
Scube3 A G 17: 28,387,132 (GRCm39) T877A probably damaging Het
Sh2d4a A T 8: 68,799,394 (GRCm39) Q421L probably benign Het
Siglec1 A T 2: 130,925,277 (GRCm39) Y395N probably damaging Het
Slc6a1 G T 6: 114,284,731 (GRCm39) G263V probably damaging Het
Slco1c1 T A 6: 141,500,833 (GRCm39) F437L probably benign Het
Slco3a1 G A 7: 73,996,419 (GRCm39) A329V probably benign Het
Spag9 T A 11: 93,983,201 (GRCm39) L504* probably null Het
Spen A T 4: 141,200,640 (GRCm39) N2662K probably damaging Het
Sptb G C 12: 76,679,246 (GRCm39) R70G possibly damaging Het
Stk3 A G 15: 35,072,644 (GRCm39) S136P probably damaging Het
Synj1 A T 16: 90,735,584 (GRCm39) F1456L probably damaging Het
Tbx5 T C 5: 119,979,971 (GRCm39) probably null Het
Tchh G A 3: 93,354,268 (GRCm39) R1236Q unknown Het
Timd4 C A 11: 46,710,857 (GRCm39) T253K possibly damaging Het
Tmc6 A G 11: 117,660,232 (GRCm39) Y669H probably damaging Het
Tmem151a C T 19: 5,132,966 (GRCm39) R80H probably benign Het
Tpgs1 T C 10: 79,511,722 (GRCm39) L288P probably damaging Het
Trhde T C 10: 114,334,698 (GRCm39) I659V probably benign Het
Trpm7 A T 2: 126,665,917 (GRCm39) Y896* probably null Het
Ttc5 C A 14: 51,019,007 (GRCm39) E37* probably null Het
Uvrag A G 7: 98,589,096 (GRCm39) probably null Het
Vmn1r59 T A 7: 5,457,283 (GRCm39) D159V probably damaging Het
Vmn2r78 G A 7: 86,604,287 (GRCm39) V822M possibly damaging Het
Vnn1 C A 10: 23,770,869 (GRCm39) Y32* probably null Het
Wrn A G 8: 33,726,432 (GRCm39) V1380A probably benign Het
Zc3h14 A C 12: 98,746,527 (GRCm39) S579R possibly damaging Het
Zfp277 G A 12: 40,367,217 (GRCm39) Q480* probably null Het
Zfp456 G A 13: 67,514,993 (GRCm39) Q238* probably null Het
Zranb3 T A 1: 128,019,638 (GRCm39) T35S probably benign Het
Other mutations in Pcdh7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Pcdh7 APN 5 57,878,806 (GRCm39) missense probably damaging 1.00
IGL00920:Pcdh7 APN 5 57,877,473 (GRCm39) missense probably damaging 0.96
IGL00990:Pcdh7 APN 5 57,877,806 (GRCm39) missense possibly damaging 0.94
IGL01367:Pcdh7 APN 5 58,286,566 (GRCm39) missense possibly damaging 0.67
IGL01388:Pcdh7 APN 5 57,877,546 (GRCm39) missense probably damaging 1.00
IGL01543:Pcdh7 APN 5 57,878,107 (GRCm39) missense probably damaging 1.00
IGL01750:Pcdh7 APN 5 57,877,764 (GRCm39) missense probably damaging 1.00
IGL02010:Pcdh7 APN 5 58,286,597 (GRCm39) missense probably benign
IGL02014:Pcdh7 APN 5 57,877,045 (GRCm39) missense probably benign 0.03
IGL02269:Pcdh7 APN 5 58,070,664 (GRCm39) missense probably damaging 1.00
IGL03051:Pcdh7 APN 5 58,286,415 (GRCm39) missense probably damaging 0.99
floated UTSW 5 57,878,704 (GRCm39) missense probably damaging 1.00
proposed UTSW 5 57,879,582 (GRCm39) missense probably damaging 0.99
P0037:Pcdh7 UTSW 5 58,070,590 (GRCm39) missense probably benign 0.17
R0003:Pcdh7 UTSW 5 58,070,590 (GRCm39) missense probably benign 0.17
R0421:Pcdh7 UTSW 5 57,877,402 (GRCm39) missense probably damaging 1.00
R0551:Pcdh7 UTSW 5 57,879,336 (GRCm39) missense probably damaging 0.99
R0562:Pcdh7 UTSW 5 57,877,405 (GRCm39) missense probably damaging 0.99
R0732:Pcdh7 UTSW 5 57,878,657 (GRCm39) missense probably damaging 1.00
R0755:Pcdh7 UTSW 5 57,877,664 (GRCm39) missense possibly damaging 0.86
R1080:Pcdh7 UTSW 5 57,876,768 (GRCm39) missense probably damaging 1.00
R1381:Pcdh7 UTSW 5 57,878,882 (GRCm39) nonsense probably null
R1591:Pcdh7 UTSW 5 57,877,764 (GRCm39) missense probably damaging 1.00
R1891:Pcdh7 UTSW 5 57,878,217 (GRCm39) missense probably damaging 0.98
R2140:Pcdh7 UTSW 5 58,286,338 (GRCm39) missense probably damaging 1.00
R2147:Pcdh7 UTSW 5 58,286,458 (GRCm39) missense possibly damaging 0.51
R2848:Pcdh7 UTSW 5 57,877,618 (GRCm39) missense probably damaging 1.00
R2867:Pcdh7 UTSW 5 57,879,236 (GRCm39) missense probably damaging 1.00
R2867:Pcdh7 UTSW 5 57,879,236 (GRCm39) missense probably damaging 1.00
R3719:Pcdh7 UTSW 5 58,286,374 (GRCm39) missense probably damaging 1.00
R4075:Pcdh7 UTSW 5 57,879,150 (GRCm39) missense probably damaging 1.00
R4231:Pcdh7 UTSW 5 57,876,631 (GRCm39) missense possibly damaging 0.94
R4236:Pcdh7 UTSW 5 57,876,631 (GRCm39) missense possibly damaging 0.94
R4352:Pcdh7 UTSW 5 57,879,361 (GRCm39) missense possibly damaging 0.88
R4420:Pcdh7 UTSW 5 58,286,512 (GRCm39) missense probably benign 0.03
R4449:Pcdh7 UTSW 5 57,877,827 (GRCm39) missense probably damaging 1.00
R4584:Pcdh7 UTSW 5 57,878,625 (GRCm39) missense probably damaging 1.00
R4686:Pcdh7 UTSW 5 58,286,511 (GRCm39) missense probably benign
R4837:Pcdh7 UTSW 5 57,877,753 (GRCm39) missense possibly damaging 0.89
R4838:Pcdh7 UTSW 5 57,878,146 (GRCm39) missense probably damaging 1.00
R4947:Pcdh7 UTSW 5 57,879,258 (GRCm39) missense probably damaging 0.98
R5053:Pcdh7 UTSW 5 57,878,943 (GRCm39) missense probably damaging 0.99
R5068:Pcdh7 UTSW 5 57,879,508 (GRCm39) missense probably damaging 1.00
R5117:Pcdh7 UTSW 5 57,879,090 (GRCm39) missense probably benign 0.09
R5132:Pcdh7 UTSW 5 57,885,463 (GRCm39) missense probably benign
R5248:Pcdh7 UTSW 5 58,286,515 (GRCm39) missense probably damaging 0.97
R5294:Pcdh7 UTSW 5 57,885,453 (GRCm39) splice site probably null
R5420:Pcdh7 UTSW 5 57,877,529 (GRCm39) missense probably damaging 1.00
R5777:Pcdh7 UTSW 5 57,876,856 (GRCm39) missense probably damaging 1.00
R5800:Pcdh7 UTSW 5 57,879,567 (GRCm39) missense probably damaging 1.00
R5834:Pcdh7 UTSW 5 57,878,970 (GRCm39) missense possibly damaging 0.90
R5870:Pcdh7 UTSW 5 57,877,753 (GRCm39) missense possibly damaging 0.89
R5917:Pcdh7 UTSW 5 57,879,097 (GRCm39) missense probably damaging 0.96
R6014:Pcdh7 UTSW 5 57,878,497 (GRCm39) missense probably damaging 0.99
R6193:Pcdh7 UTSW 5 57,877,666 (GRCm39) missense probably damaging 1.00
R6240:Pcdh7 UTSW 5 57,878,704 (GRCm39) missense probably damaging 1.00
R6335:Pcdh7 UTSW 5 58,099,607 (GRCm39) splice site probably null
R6418:Pcdh7 UTSW 5 57,879,046 (GRCm39) missense probably damaging 1.00
R6907:Pcdh7 UTSW 5 57,876,471 (GRCm39) missense possibly damaging 0.53
R7058:Pcdh7 UTSW 5 57,879,582 (GRCm39) missense probably damaging 0.99
R7069:Pcdh7 UTSW 5 57,877,126 (GRCm39) missense probably benign 0.00
R7073:Pcdh7 UTSW 5 57,878,299 (GRCm39) missense probably benign 0.19
R7463:Pcdh7 UTSW 5 57,878,340 (GRCm39) missense probably benign 0.06
R7509:Pcdh7 UTSW 5 57,877,529 (GRCm39) missense probably damaging 1.00
R7588:Pcdh7 UTSW 5 57,877,246 (GRCm39) missense probably damaging 1.00
R7707:Pcdh7 UTSW 5 57,877,672 (GRCm39) missense probably damaging 0.99
R7734:Pcdh7 UTSW 5 57,876,976 (GRCm39) missense probably damaging 0.99
R7899:Pcdh7 UTSW 5 57,877,152 (GRCm39) missense probably benign
R8194:Pcdh7 UTSW 5 57,877,678 (GRCm39) missense probably damaging 1.00
R8480:Pcdh7 UTSW 5 58,286,407 (GRCm39) missense probably damaging 1.00
R8890:Pcdh7 UTSW 5 57,876,717 (GRCm39) missense probably damaging 1.00
R8906:Pcdh7 UTSW 5 57,879,154 (GRCm39) missense probably damaging 1.00
R8990:Pcdh7 UTSW 5 57,879,364 (GRCm39) missense probably benign 0.06
R9264:Pcdh7 UTSW 5 58,286,663 (GRCm39) missense probably benign 0.09
R9272:Pcdh7 UTSW 5 57,878,779 (GRCm39) missense possibly damaging 0.81
R9294:Pcdh7 UTSW 5 57,878,677 (GRCm39) missense probably benign 0.39
R9518:Pcdh7 UTSW 5 58,070,513 (GRCm39) missense possibly damaging 0.81
R9597:Pcdh7 UTSW 5 57,877,197 (GRCm39) missense possibly damaging 0.68
R9642:Pcdh7 UTSW 5 57,876,717 (GRCm39) missense probably damaging 1.00
R9745:Pcdh7 UTSW 5 57,879,622 (GRCm39) critical splice donor site probably null
X0021:Pcdh7 UTSW 5 57,878,826 (GRCm39) missense possibly damaging 0.95
X0026:Pcdh7 UTSW 5 57,876,721 (GRCm39) missense probably damaging 1.00
Z1177:Pcdh7 UTSW 5 57,877,006 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TTCCTGGACTTCGAGGTGTC -3'
(R):5'- AAGCTCAAACACACTGCTTCGG -3'

Sequencing Primer
(F):5'- TCGGTGATAGGGCCCTCAC -3'
(R):5'- ACACTGCTTCGGCCACTAG -3'
Posted On 2014-08-25