Incidental Mutation 'IGL00990:Pcdh7'
ID27561
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdh7
Ensembl Gene ENSMUSG00000029108
Gene Nameprotocadherin 7
SynonymsBH-protocadherin
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.311) question?
Stock #IGL00990
Quality Score
Status
Chromosome5
Chromosomal Location57717967-58133230 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 57720464 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 454 (E454K)
Ref Sequence ENSEMBL: ENSMUSP00000142319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068110] [ENSMUST00000094783] [ENSMUST00000191837] [ENSMUST00000199310]
Predicted Effect possibly damaging
Transcript: ENSMUST00000068110
AA Change: E454K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066306
Gene: ENSMUSG00000029108
AA Change: E454K

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: E454K
SMART Domains Protein: ENSMUSP00000092376
Gene: ENSMUSG00000029108
AA Change: E454K

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: E454K

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: E454K

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: E114K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193156
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200266
Coding Region Coverage
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: 150 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430531B16Rik A C 7: 139,978,103 V60G probably damaging Het
Adcy8 C A 15: 64,822,313 V372L probably benign Het
Bod1l T C 5: 41,828,865 D458G probably benign Het
C87414 T A 5: 93,636,477 Q376L probably damaging Het
Cacna1c G T 6: 118,613,295 H1416N probably damaging Het
Cacna2d1 T C 5: 15,935,069 I19T probably benign Het
Cadps T A 14: 12,715,374 T153S possibly damaging Het
Cd200r1 A T 16: 44,794,309 D317V possibly damaging Het
Dcaf5 C T 12: 80,338,832 R840H probably benign Het
Dnhd1 A C 7: 105,721,688 H4725P possibly damaging Het
Echdc3 C A 2: 6,195,727 L149F probably benign Het
Efhb T G 17: 53,462,621 Q220P possibly damaging Het
Efr3b A T 12: 3,975,411 Y18* probably null Het
Eri1 T C 8: 35,482,682 K41R possibly damaging Het
Eri1 C A 8: 35,482,646 G53V probably benign Het
Gm10212 A G 19: 11,569,560 noncoding transcript Het
Gm11168 T G 9: 3,005,124 F201C probably damaging Het
Gm14412 A C 2: 177,315,686 S139A probably benign Het
Gm21411 C T 4: 146,892,610 S69N possibly damaging Het
Gm21671 A C 5: 25,954,224 W41G probably benign Het
Gm21738 A G 14: 19,418,885 C16R probably benign Het
Gm21967 T A 13: 119,609,535 probably benign Het
Gm4952 A T 19: 12,623,623 D69V probably damaging Het
Gm5591 T G 7: 38,520,414 K345T probably benign Het
Gm7647 T C 5: 94,962,980 S7P probably benign Het
Gm9733 C T 3: 15,332,145 probably null Het
Gm9758 G A 5: 14,913,508 probably benign Het
Gtse1 C A 15: 85,868,817 Q378K possibly damaging Het
Haus3 T C 5: 34,166,346 K307E probably benign Het
Hjurp A G 1: 88,270,269 L96S probably benign Het
Ifi205 T A 1: 174,027,333 probably benign Het
Ighg1 A G 12: 113,329,184 V255A unknown Het
Ighv14-4 T A 12: 114,176,632 M49L probably benign Het
Jak1 A C 4: 101,171,357 L508R probably damaging Het
Kif18a A G 2: 109,334,422 Q821R probably benign Het
Kif21b T C 1: 136,152,342 S539P possibly damaging Het
Klhdc2 T C 12: 69,307,213 V266A probably benign Het
Lonp2 G T 8: 86,641,533 probably benign Het
Mpdz C T 4: 81,303,584 probably benign Het
Mroh2a G A 1: 88,230,746 E172K probably damaging Het
Mroh2a G T 1: 88,244,970 M823I probably benign Het
Mroh2a G A 1: 88,234,120 G309D possibly damaging Het
Mtif3 C A 5: 146,959,104 G58* probably null Het
Muc4 G T 16: 32,753,848 K1241N probably benign Het
Muc4 G A 16: 32,753,849 G1242R probably benign Het
Muc4 C T 16: 32,755,805 probably benign Het
Muc4 C T 16: 32,753,823 P1233L probably benign Het
Muc4 C A 16: 32,753,955 T1277K possibly damaging Het
Muc4 A G 16: 32,754,071 R1316G probably benign Het
Muc4 T G 16: 32,753,863 N1246K probably benign Het
Muc4 A T 16: 32,753,886 E1254V probably benign Het
Muc4 C T 16: 32,752,569 P816S probably benign Het
Muc6 C T 7: 141,638,890 A1957T possibly damaging Het
Naca T A 10: 128,043,800 probably benign Het
Nars2 A T 7: 97,002,790 probably benign Het
Odf3l1 T C 9: 56,849,057 E225G probably benign Het
Olfr1445 G T 19: 12,883,901 V7L probably benign Het
Olfr342 A C 2: 36,527,993 I194L probably benign Het
Olfr549 G T 7: 102,554,891 L202F probably damaging Het
Olfr812 T C 10: 129,842,473 T190A probably damaging Het
Pip5kl1 C A 2: 32,583,347 A332D probably benign Het
Pisd A T 5: 32,739,358 S280T probably benign Het
Pramel5 A G 4: 144,273,979 L9P probably damaging Het
Prkd3 G T 17: 78,954,523 N787K probably benign Het
Prkdc A T 16: 15,702,115 H1139L probably benign Het
R3hdm1 A G 1: 128,162,196 probably benign Het
Rbfox2 T C 15: 77,102,936 N206D probably damaging Het
Rlf T C 4: 121,148,339 E1258G possibly damaging Het
Rpl8 T C 15: 76,905,042 probably benign Het
Senp5 A C 16: 31,990,274 V27G probably benign Het
Serpina1b T A 12: 103,728,266 K406N probably damaging Het
Sfi1 G A 11: 3,134,337 A975V probably benign Het
Sfi1 T C 11: 3,143,689 probably benign Het
Sfi1 C T 11: 3,135,671 A853T probably damaging Het
Shc1 T C 3: 89,424,229 S154P probably damaging Het
Skint5 A G 4: 113,542,873 probably null Het
Slc17a8 T C 10: 89,576,530 D531G probably benign Het
Slc4a10 A C 2: 62,286,940 T718P probably damaging Het
Slc7a11 C T 3: 50,379,069 R411Q probably damaging Het
Slitrk3 A G 3: 73,050,081 F453L probably damaging Het
Slk A C 19: 47,580,252 Q20P probably damaging Het
Smg5 T C 3: 88,343,038 probably null Het
Sp110 G A 1: 85,586,281 R252C possibly damaging Het
Sp140 C T 1: 85,626,165 R242C possibly damaging Het
Sp140 G A 1: 85,626,133 R231K probably benign Het
Speer4b G A 5: 27,501,274 P30S probably damaging Het
Stim1 T A 7: 102,426,747 H395Q probably damaging Het
Sult2a1 T C 7: 13,804,036 I187M probably benign Het
Thap1 G A 8: 26,162,731 D189N probably benign Het
Thap1 C T 8: 26,160,882 P37L possibly damaging Het
Thrap3 C T 4: 126,165,395 probably benign Het
Tmem132d C T 5: 127,784,832 V742I possibly damaging Het
Tmprss9 A G 10: 80,892,292 D572G possibly damaging Het
Tmtc1 T G 6: 148,443,944 T86P probably benign Het
Trip12 A T 1: 84,751,884 N1026K probably damaging Het
Ttll5 T A 12: 85,876,589 V280E probably damaging Het
Ubn2 T A 6: 38,482,605 D592E possibly damaging Het
Ubr1 T G 2: 120,930,872 H608P probably damaging Het
Ugt1a6b A T 1: 88,215,178 probably null Het
Vmn1r77 C A 7: 12,041,768 S89Y probably benign Het
Vmn1r77 A C 7: 12,041,476 I60L probably benign Het
Vmn2r114 G A 17: 23,290,965 A847V probably benign Het
Vmn2r114 A T 17: 23,291,238 L756Q probably damaging Het
Vmn2r114 G T 17: 23,290,983 S841Y probably benign Het
Vmn2r115 C T 17: 23,346,264 S375F probably benign Het
Vmn2r115 G A 17: 23,359,779 G742D probably damaging Het
Vmn2r115 T A 17: 23,359,824 L757Q probably damaging Het
Vmn2r115 G T 17: 23,348,034 G507* probably null Het
Vmn2r115 G A 17: 23,346,278 E380K probably benign Het
Vmn2r115 A G 17: 23,356,960 M511V probably benign Het
Vmn2r115 C T 17: 23,346,371 Q411* probably null Het
Vmn2r115 A G 17: 23,346,372 Q411R probably benign Het
Vmn2r115 C T 17: 23,359,397 P615S probably damaging Het
Vmn2r115 A G 17: 23,346,161 N341D probably benign Het
Vmn2r115 G T 17: 23,359,349 A599S probably benign Het
Vmn2r115 A C 17: 23,346,339 N400T probably damaging Het
Vmn2r115 C T 17: 23,346,176 P346S probably benign Het
Vmn2r115 A T 17: 23,346,206 M356L possibly damaging Het
Vmn2r116 C T 17: 23,397,727 P540S probably damaging Het
Vmn2r116 C T 17: 23,387,236 S374F probably benign Het
Vmn2r117 C T 17: 23,477,840 A198T probably damaging Het
Vmn2r117 T G 17: 23,475,429 K481N probably damaging Het
Vmn2r117 A C 17: 23,479,546 S18A probably benign Het
Vmn2r121 T G X: 124,127,802 K840N probably benign Het
Vmn2r121 T A X: 124,127,783 N847Y possibly damaging Het
Vmn2r121 C T X: 124,133,716 E73K probably benign Het
Vmn2r125 A C 4: 156,350,900 Q191P probably benign Het
Vmn2r125 C A 4: 156,350,899 Q191K probably benign Het
Vmn2r125 T C 4: 156,350,966 V213A probably benign Het
Vmn2r125 T C 4: 156,351,383 M352T probably benign Het
Vmn2r125 C T 4: 156,351,038 T237I probably benign Het
Vmn2r125 A T 4: 156,351,037 T237S probably benign Het
Vmn2r125 T A 4: 156,351,226 L300M probably benign Het
Vmn2r88 A G 14: 51,413,125 I98M probably benign Het
Vmn2r88 T C 14: 51,413,256 I142T probably benign Het
Vmn2r88 C T 14: 51,416,802 P539L possibly damaging Het
Vmn2r88 T C 14: 51,413,060 F77L probably benign Het
Vmn2r89 A C 14: 51,455,971 Q259H probably benign Het
Vmn2r89 T G 14: 51,457,493 L477V probably benign Het
Vmn2r-ps159 T C 4: 156,334,263 noncoding transcript Het
Vmn2r-ps159 C A 4: 156,338,435 noncoding transcript Het
Vmn2r-ps159 G T 4: 156,338,460 noncoding transcript Het
Vmn2r-ps159 T G 4: 156,334,562 noncoding transcript Het
Vmn2r-ps159 T G 4: 156,338,484 noncoding transcript Het
Vmn2r-ps159 G T 4: 156,334,397 noncoding transcript Het
Vmn2r-ps159 A T 4: 156,338,146 noncoding transcript Het
Zfp180 G A 7: 24,104,416 C85Y possibly damaging Het
Zfp180 C T 7: 24,104,830 R225C probably benign Het
Zfp180 G A 7: 24,104,995 V280M possibly damaging Het
Zfp982 G A 4: 147,512,369 C61Y probably benign Het
Other mutations in Pcdh7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Pcdh7 APN 5 57721464 missense probably damaging 1.00
IGL00920:Pcdh7 APN 5 57720131 missense probably damaging 0.96
IGL01367:Pcdh7 APN 5 58129224 missense possibly damaging 0.67
IGL01388:Pcdh7 APN 5 57720204 missense probably damaging 1.00
IGL01543:Pcdh7 APN 5 57720765 missense probably damaging 1.00
IGL01750:Pcdh7 APN 5 57720422 missense probably damaging 1.00
IGL02010:Pcdh7 APN 5 58129255 missense probably benign
IGL02014:Pcdh7 APN 5 57719703 missense probably benign 0.03
IGL02269:Pcdh7 APN 5 57913322 missense probably damaging 1.00
IGL03051:Pcdh7 APN 5 58129073 missense probably damaging 0.99
P0037:Pcdh7 UTSW 5 57913248 missense probably benign 0.17
R0003:Pcdh7 UTSW 5 57913248 missense probably benign 0.17
R0421:Pcdh7 UTSW 5 57720060 missense probably damaging 1.00
R0551:Pcdh7 UTSW 5 57721994 missense probably damaging 0.99
R0562:Pcdh7 UTSW 5 57720063 missense probably damaging 0.99
R0732:Pcdh7 UTSW 5 57721315 missense probably damaging 1.00
R0755:Pcdh7 UTSW 5 57720322 missense possibly damaging 0.86
R1080:Pcdh7 UTSW 5 57719426 missense probably damaging 1.00
R1381:Pcdh7 UTSW 5 57721540 nonsense probably null
R1591:Pcdh7 UTSW 5 57720422 missense probably damaging 1.00
R1891:Pcdh7 UTSW 5 57720875 missense probably damaging 0.98
R2011:Pcdh7 UTSW 5 57719629 missense probably damaging 1.00
R2140:Pcdh7 UTSW 5 58128996 missense probably damaging 1.00
R2147:Pcdh7 UTSW 5 58129116 missense possibly damaging 0.51
R2848:Pcdh7 UTSW 5 57720276 missense probably damaging 1.00
R2867:Pcdh7 UTSW 5 57721894 missense probably damaging 1.00
R2867:Pcdh7 UTSW 5 57721894 missense probably damaging 1.00
R3719:Pcdh7 UTSW 5 58129032 missense probably damaging 1.00
R4075:Pcdh7 UTSW 5 57721808 missense probably damaging 1.00
R4231:Pcdh7 UTSW 5 57719289 missense possibly damaging 0.94
R4236:Pcdh7 UTSW 5 57719289 missense possibly damaging 0.94
R4352:Pcdh7 UTSW 5 57722019 missense possibly damaging 0.88
R4420:Pcdh7 UTSW 5 58129170 missense probably benign 0.03
R4449:Pcdh7 UTSW 5 57720485 missense probably damaging 1.00
R4584:Pcdh7 UTSW 5 57721283 missense probably damaging 1.00
R4686:Pcdh7 UTSW 5 58129169 missense probably benign
R4837:Pcdh7 UTSW 5 57720411 missense possibly damaging 0.89
R4838:Pcdh7 UTSW 5 57720804 missense probably damaging 1.00
R4947:Pcdh7 UTSW 5 57721916 missense probably damaging 0.98
R5053:Pcdh7 UTSW 5 57721601 missense probably damaging 0.99
R5068:Pcdh7 UTSW 5 57722166 missense probably damaging 1.00
R5117:Pcdh7 UTSW 5 57721748 missense probably benign 0.09
R5132:Pcdh7 UTSW 5 57728121 missense probably benign
R5248:Pcdh7 UTSW 5 58129173 missense probably damaging 0.97
R5294:Pcdh7 UTSW 5 57728111 splice site probably null
R5420:Pcdh7 UTSW 5 57720187 missense probably damaging 1.00
R5777:Pcdh7 UTSW 5 57719514 missense probably damaging 1.00
R5800:Pcdh7 UTSW 5 57722225 missense probably damaging 1.00
R5834:Pcdh7 UTSW 5 57721628 missense possibly damaging 0.90
R5870:Pcdh7 UTSW 5 57720411 missense possibly damaging 0.89
R5917:Pcdh7 UTSW 5 57721755 missense probably damaging 0.96
R6014:Pcdh7 UTSW 5 57721155 missense probably damaging 0.99
R6193:Pcdh7 UTSW 5 57720324 missense probably damaging 1.00
R6240:Pcdh7 UTSW 5 57721362 missense probably damaging 1.00
R6335:Pcdh7 UTSW 5 57942265 unclassified probably null
R6418:Pcdh7 UTSW 5 57721704 missense probably damaging 1.00
R6907:Pcdh7 UTSW 5 57719129 missense possibly damaging 0.53
R7058:Pcdh7 UTSW 5 57722240 missense probably damaging 0.99
R7069:Pcdh7 UTSW 5 57719784 missense probably benign 0.00
R7073:Pcdh7 UTSW 5 57720957 missense probably benign 0.19
X0021:Pcdh7 UTSW 5 57721484 missense possibly damaging 0.95
X0026:Pcdh7 UTSW 5 57719379 missense probably damaging 1.00
Posted On2013-04-17