Incidental Mutation 'R1891:Pcdh7'
ID 211474
Institutional Source Beutler Lab
Gene Symbol Pcdh7
Ensembl Gene ENSMUSG00000029108
Gene Name protocadherin 7
Synonyms BH-protocadherin
MMRRC Submission 039911-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R1891 (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 57878217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 591 (I591F)
Ref Sequence ENSEMBL: ENSMUSP00000066306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068110] [ENSMUST00000094783] [ENSMUST00000191837] [ENSMUST00000199310]
AlphaFold A0A0A6YY83
Predicted Effect probably damaging
Transcript: ENSMUST00000068110
AA Change: I591F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066306
Gene: ENSMUSG00000029108
AA Change: I591F

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: I591F
SMART Domains Protein: ENSMUSP00000092376
Gene: ENSMUSG00000029108
AA Change: I591F

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: I591F

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: I591F

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: I251F
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: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.7%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,840,874 (GRCm39) I921T possibly damaging Het
Abca8a T C 11: 109,982,433 (GRCm39) K3R probably benign Het
Adgrl3 A T 5: 81,659,891 (GRCm39) D152V probably damaging Het
Akap6 A T 12: 53,188,958 (GRCm39) D2124V possibly damaging Het
Akt1 A G 12: 112,626,009 (GRCm39) F88L probably damaging Het
Ankrd24 T C 10: 81,479,342 (GRCm39) probably benign Het
Arid4b T A 13: 14,310,821 (GRCm39) N141K possibly damaging Het
Cacna1c C A 6: 118,753,480 (GRCm39) D219Y probably damaging Het
Ccdc113 A G 8: 96,267,544 (GRCm39) K170E probably damaging Het
Ceacam9 A G 7: 16,457,880 (GRCm39) E136G probably damaging Het
Cfap43 A G 19: 47,802,380 (GRCm39) L333P probably damaging Het
Chl1 A G 6: 103,691,544 (GRCm39) D1062G possibly damaging Het
Cimip4 T A 15: 78,262,952 (GRCm39) D234V probably damaging Het
Ckb TCCACCACCA TCCACCA 12: 111,636,079 (GRCm39) probably benign Het
Clpp T A 17: 57,298,307 (GRCm39) V91E probably damaging Het
Cndp1 A T 18: 84,637,758 (GRCm39) H325Q probably null Het
Cngb3 A G 4: 19,366,446 (GRCm39) N169S probably benign Het
Cog6 A C 3: 52,890,601 (GRCm39) I613R probably benign Het
Creb3l1 A G 2: 91,817,385 (GRCm39) L376P probably damaging Het
Cry2 A T 2: 92,243,985 (GRCm39) V396D possibly damaging Het
Cxxc5 A G 18: 35,992,318 (GRCm39) M240V possibly damaging Het
Defa28 G A 8: 22,073,801 (GRCm39) C68Y probably damaging Het
Ecd A G 14: 20,388,227 (GRCm39) I187T probably damaging Het
Erg28 A G 12: 85,862,962 (GRCm39) S117P probably benign Het
Ergic2 A T 6: 148,084,577 (GRCm39) C319S probably damaging Het
Ess2 C T 16: 17,725,644 (GRCm39) W183* probably null Het
Evc2 A C 5: 37,549,423 (GRCm39) D773A probably damaging Het
Fam151b T A 13: 92,586,678 (GRCm39) T252S probably benign Het
Fbxo28 A T 1: 182,145,389 (GRCm39) M233K probably benign Het
Fbxw26 T G 9: 109,551,232 (GRCm39) D355A probably benign Het
Gm4884 G C 7: 40,692,539 (GRCm39) E169D possibly damaging Het
Hk2 C T 6: 82,726,264 (GRCm39) R94Q probably benign Het
Hps4 G A 5: 112,517,422 (GRCm39) probably null Het
Hspg2 T A 4: 137,292,801 (GRCm39) D4126E probably damaging Het
Kif13a T C 13: 47,082,695 (GRCm39) E48G possibly damaging Het
Krt31 T A 11: 99,938,634 (GRCm39) N320Y probably damaging Het
Lca5 T C 9: 83,277,661 (GRCm39) Y561C probably damaging Het
Lrrk1 G A 7: 65,929,048 (GRCm39) L1195F probably damaging Het
Ly6g6d A C 17: 35,293,269 (GRCm39) Y25* probably null Het
Map3k13 T G 16: 21,729,836 (GRCm39) M489R probably damaging Het
Mcm6 C T 1: 128,263,547 (GRCm39) R658H probably damaging Het
Mecp2 C T X: 73,080,781 (GRCm39) A79T probably damaging Het
Mitf A G 6: 97,918,237 (GRCm39) T94A probably benign Het
Mpo T A 11: 87,692,106 (GRCm39) L513* probably null Het
Mst1r T A 9: 107,790,661 (GRCm39) N722K probably damaging Het
Mthfd1l T A 10: 3,982,284 (GRCm39) L497* probably null Het
Mtus1 C T 8: 41,537,362 (GRCm39) S118N probably damaging Het
Mybbp1a C T 11: 72,336,863 (GRCm39) T565I probably benign Het
Naip2 C T 13: 100,291,395 (GRCm39) R1181K probably benign Het
Nbas T C 12: 13,440,973 (GRCm39) M1101T possibly damaging Het
Odad3 G T 9: 21,906,677 (GRCm39) probably null Het
Or2y1b T C 11: 49,208,684 (GRCm39) F104L probably benign Het
Or4f60 A T 2: 111,902,739 (GRCm39) L63Q probably damaging Het
Or52l1 A T 7: 104,829,754 (GRCm39) Y270* probably null Het
Or5ae1 T A 7: 84,565,461 (GRCm39) V158D possibly damaging Het
Or6c33 T C 10: 129,853,439 (GRCm39) S70P probably damaging Het
Or7a40 T A 16: 16,491,441 (GRCm39) I135F probably damaging Het
Or7g20 T C 9: 18,947,274 (GRCm39) L285S probably damaging Het
Or8b12b T A 9: 37,684,163 (GRCm39) D69E possibly damaging Het
Oxct2b A G 4: 123,010,938 (GRCm39) D286G probably benign Het
Pax5 A T 4: 44,691,859 (GRCm39) V129E probably damaging Het
Pax7 G A 4: 139,511,937 (GRCm39) R215C probably damaging Het
Pcdhb22 T C 18: 37,652,357 (GRCm39) V275A probably damaging Het
Pkp3 C T 7: 140,663,969 (GRCm39) probably null Het
Plekhb1 A G 7: 100,304,599 (GRCm39) L35P probably damaging Het
Pole T A 5: 110,480,408 (GRCm39) F1993Y probably damaging Het
Pramel28 A T 4: 143,693,235 (GRCm39) V81E probably damaging Het
Prdx1 T C 4: 116,556,451 (GRCm39) *200R probably null Het
Prkdc C A 16: 15,543,300 (GRCm39) T1777N probably benign Het
Prss59 A T 6: 40,902,967 (GRCm39) M135K possibly damaging Het
Ptpn14 G A 1: 189,530,850 (GRCm39) V106M probably damaging Het
Ptpn23 T C 9: 110,222,868 (GRCm39) E63G possibly damaging Het
Qser1 A C 2: 104,620,444 (GRCm39) S123A probably benign Het
Rbm11 A G 16: 75,397,675 (GRCm39) N202D possibly damaging Het
Robo3 T A 9: 37,339,351 (GRCm39) Y212F probably damaging Het
Sde2 G A 1: 180,687,573 (GRCm39) S153N probably benign Het
Serpinb1c T A 13: 33,068,235 (GRCm39) D179V probably benign Het
Skint6 T C 4: 112,703,893 (GRCm39) D994G possibly damaging Het
Sorbs1 A G 19: 40,381,904 (GRCm39) S46P probably damaging Het
St8sia4 T C 1: 95,519,433 (GRCm39) T352A possibly damaging Het
Stab1 C A 14: 30,863,287 (GRCm39) R2133L probably benign Het
Stk11ip T C 1: 75,509,060 (GRCm39) C730R probably benign Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tle4 A T 19: 14,522,150 (GRCm39) probably null Het
Tmem200a T A 10: 25,869,970 (GRCm39) N100Y probably damaging Het
Tnnt2 A T 1: 135,768,597 (GRCm39) probably null Het
Ttn T A 2: 76,706,302 (GRCm39) probably benign Het
Ubac1 A G 2: 25,904,974 (GRCm39) V88A probably benign Het
Urgcp T C 11: 5,666,910 (GRCm39) E476G probably benign Het
Vmn1r201 G A 13: 22,659,425 (GRCm39) R213H probably benign Het
Vmn2r84 C T 10: 130,221,938 (GRCm39) V761M possibly damaging Het
Vwde A T 6: 13,187,454 (GRCm39) Y678N probably damaging Het
Wnk2 C A 13: 49,206,200 (GRCm39) E1865* probably null Het
Zc3h3 A C 15: 75,628,780 (GRCm39) M838R possibly damaging Het
Zfp959 T A 17: 56,204,604 (GRCm39) C211S probably 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
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
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'- ATGACAACCCTCCTGTCTTTGG -3'
(R):5'- CATCCATCACGGTGACCATC -3'

Sequencing Primer
(F):5'- CCTGTCTTTGGCCAGTCTGTG -3'
(R):5'- CGGTGACCATCCCCACAG -3'
Posted On 2014-06-30