Incidental Mutation 'R0755:Pcdh7'
ID 70406
Institutional Source Beutler Lab
Gene Symbol Pcdh7
Ensembl Gene ENSMUSG00000029108
Gene Name protocadherin 7
Synonyms BH-protocadherin
MMRRC Submission 038935-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R0755 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 57875309-58290572 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57877664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 406 (K406N)
Ref Sequence ENSEMBL: ENSMUSP00000066306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068110] [ENSMUST00000094783] [ENSMUST00000191837] [ENSMUST00000199310]
AlphaFold A0A0A6YY83
Predicted Effect possibly damaging
Transcript: ENSMUST00000068110
AA Change: K406N

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000066306
Gene: ENSMUSG00000029108
AA Change: K406N

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 unknown
Transcript: ENSMUST00000094783
AA Change: K406N
SMART Domains Protein: ENSMUSP00000092376
Gene: ENSMUSG00000029108
AA Change: K406N

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 possibly damaging
Transcript: ENSMUST00000191837
AA Change: K406N

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: K406N

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 unknown
Transcript: ENSMUST00000192287
AA Change: K66N
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200266
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
Predicted Effect probably benign
Transcript: ENSMUST00000195156
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 93.8%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730061H03Rik A T 14: 55,797,638 (GRCm39) probably benign Het
Acin1 A G 14: 54,889,292 (GRCm39) M1T probably null Het
Akp3 G A 1: 87,055,593 (GRCm39) G547R unknown Het
Aldh1a1 A G 19: 20,595,358 (GRCm39) M96V probably benign Het
Ankfn1 T A 11: 89,282,913 (GRCm39) M245L probably benign Het
Arhgap19 T C 19: 41,769,614 (GRCm39) K54E probably damaging Het
Atp1a2 T C 1: 172,116,948 (GRCm39) Q223R probably benign Het
Atp8a2 C T 14: 60,247,330 (GRCm39) V557I possibly damaging Het
AU041133 A T 10: 81,986,724 (GRCm39) K126* probably null Het
Axin1 T A 17: 26,401,480 (GRCm39) Y351N possibly damaging Het
Baiap2l1 T C 5: 144,221,367 (GRCm39) K176E probably damaging Het
Baz2a C T 10: 127,955,560 (GRCm39) T848I possibly damaging Het
Bbs2 A C 8: 94,808,708 (GRCm39) V333G probably benign Het
BC051019 G A 7: 109,315,302 (GRCm39) Q318* probably null Het
Bltp1 T C 3: 37,000,513 (GRCm39) S1231P probably damaging Het
Cdc37 C T 9: 21,051,160 (GRCm39) D362N probably damaging Het
Cep170 A T 1: 176,583,319 (GRCm39) V1020E probably damaging Het
Chrm4 T C 2: 91,758,747 (GRCm39) V385A probably benign Het
Cntrl G A 2: 35,035,151 (GRCm39) S373N probably damaging Het
Col23a1 G A 11: 51,467,706 (GRCm39) G19D probably damaging Het
Cyb5r4 G T 9: 86,911,625 (GRCm39) A100S probably damaging Het
Dctn1 C T 6: 83,166,059 (GRCm39) P115S probably damaging Het
Dhrs2 C T 14: 55,472,247 (GRCm39) T46M probably damaging Het
Disp2 T C 2: 118,620,243 (GRCm39) F325S probably benign Het
Dnah11 T G 12: 117,918,564 (GRCm39) T3456P possibly damaging Het
Dnah11 C A 12: 118,162,360 (GRCm39) V70F probably benign Het
Duoxa1 T A 2: 122,135,161 (GRCm39) T195S probably benign Het
Dync2i1 T C 12: 116,175,412 (GRCm39) I922V probably benign Het
Eif2ak1 T A 5: 143,821,742 (GRCm39) F353I possibly damaging Het
Esam A G 9: 37,447,998 (GRCm39) T211A probably damaging Het
Faf1 A G 4: 109,819,036 (GRCm39) N636S probably benign Het
Fbxo25 A G 8: 13,985,219 (GRCm39) Y305C probably benign Het
Fchsd1 C T 18: 38,101,803 (GRCm39) probably null Het
Fdxacb1 T A 9: 50,683,025 (GRCm39) D329E possibly damaging Het
Gvin2 A T 7: 105,545,892 (GRCm39) F2387I possibly damaging Het
Hbq1b A T 11: 32,237,104 (GRCm39) probably null Het
Hmcn2 T A 2: 31,343,172 (GRCm39) V4566E probably damaging Het
Igkv6-29 G A 6: 70,116,053 (GRCm39) T5I probably benign Het
Itfg1 A T 8: 86,452,834 (GRCm39) D511E possibly damaging Het
Jmjd1c C T 10: 66,932,378 (GRCm39) probably benign Het
Kat6b T A 14: 21,687,661 (GRCm39) M570K probably damaging Het
Kdm4d T A 9: 14,375,591 (GRCm39) K89M probably damaging Het
Krt19 A T 11: 100,032,965 (GRCm39) D194E possibly damaging Het
Lamc1 A T 1: 153,123,196 (GRCm39) Y665N possibly damaging Het
Lct A T 1: 128,221,872 (GRCm39) S1556T possibly damaging Het
Macf1 A G 4: 123,263,719 (GRCm39) L4924P probably damaging Het
Mef2c G A 13: 83,804,472 (GRCm39) probably null Het
Mff G A 1: 82,728,326 (GRCm39) probably null Het
Mycbp2 A T 14: 103,412,230 (GRCm39) L2581Q probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Nos3 T A 5: 24,572,295 (GRCm39) L123M probably damaging Het
Ntn5 C T 7: 45,335,952 (GRCm39) P128S probably benign Het
Nudt9 T C 5: 104,212,920 (GRCm39) V331A probably damaging Het
Or2y3 A T 17: 38,393,085 (GRCm39) Y261* probably null Het
Or7g34 T C 9: 19,478,415 (GRCm39) I88M possibly damaging Het
Pkdrej T A 15: 85,700,336 (GRCm39) I1867L probably benign Het
Plppr4 C T 3: 117,116,319 (GRCm39) G455R possibly damaging Het
Pramel11 A G 4: 143,624,299 (GRCm39) V66A probably damaging Het
Prkag2 G C 5: 25,152,629 (GRCm39) S158R probably benign Het
Ptprq T G 10: 107,418,400 (GRCm39) T1659P probably benign Het
Rasl12 A G 9: 65,318,241 (GRCm39) K202E probably benign Het
Rb1 A C 14: 73,434,653 (GRCm39) *922G probably null Het
Rsf1 C T 7: 97,229,174 (GRCm39) P22S probably damaging Het
Scn1a T G 2: 66,151,379 (GRCm39) T797P probably damaging Het
Sgsm2 A G 11: 74,756,323 (GRCm39) V342A probably damaging Het
Slc22a7 T G 17: 46,749,113 (GRCm39) H68P possibly damaging Het
Slc4a2 G A 5: 24,640,575 (GRCm39) A652T probably benign Het
Slc5a1 T A 5: 33,290,733 (GRCm39) L106M probably benign Het
Slco1c1 C T 6: 141,477,258 (GRCm39) P19S probably damaging Het
Snx1 A G 9: 66,005,738 (GRCm39) F127S probably damaging Het
Snx31 A T 15: 36,534,576 (GRCm39) I199N probably damaging Het
Snx33 T C 9: 56,832,741 (GRCm39) I443V possibly damaging Het
Sptbn1 A G 11: 30,089,016 (GRCm39) F749L probably damaging Het
Stoml3 T A 3: 53,405,559 (GRCm39) Y53* probably null Het
Stxbp2 A G 8: 3,692,019 (GRCm39) T554A probably benign Het
Tal1 T C 4: 114,925,573 (GRCm39) I214T probably damaging Het
Tas2r140 T A 6: 40,468,344 (GRCm39) I58N probably damaging Het
Thap1 A G 8: 26,648,501 (GRCm39) Y8C probably damaging Het
Thsd7a A T 6: 12,555,368 (GRCm39) L172Q probably damaging Het
Ube3c T A 5: 29,842,740 (GRCm39) D735E probably damaging Het
Unc80 G A 1: 66,544,082 (GRCm39) D402N probably damaging Het
Upf1 G T 8: 70,786,779 (GRCm39) R902S probably benign Het
Urb1 A G 16: 90,570,982 (GRCm39) Y1276H probably damaging Het
Urb1 A T 16: 90,576,026 (GRCm39) F843L probably benign Het
Vmn1r198 C T 13: 22,539,402 (GRCm39) T296I probably benign Het
Vmn1r33 A T 6: 66,588,892 (GRCm39) S221T probably damaging Het
Vmn2r103 A G 17: 19,993,830 (GRCm39) D69G probably benign Het
Vmn2r14 T G 5: 109,364,226 (GRCm39) L563F possibly damaging Het
Vmn2r60 G A 7: 41,844,869 (GRCm39) G744D probably damaging Het
Vstm4 T C 14: 32,614,601 (GRCm39) V181A probably damaging Het
Wdr72 G A 9: 74,052,376 (GRCm39) V136I probably benign Het
Zfp236 T A 18: 82,638,457 (GRCm39) N1388Y probably damaging Het
Zfp53 T A 17: 21,728,839 (GRCm39) F291I probably damaging Het
Zfp944 A T 17: 22,558,889 (GRCm39) H119Q possibly damaging 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
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
R2011:Pcdh7 UTSW 5 57,876,971 (GRCm39) missense probably damaging 1.00
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'- TATGAGGCTGACCTGGCTGAGAAC -3'
(R):5'- AAGCTGGAAAGGAACGTCTCCCAC -3'

Sequencing Primer
(F):5'- CGCCACCGATTTGGATGTAG -3'
(R):5'- TCCCACTACGGTACAGGTGAC -3'
Posted On 2013-09-30