Incidental Mutation 'R7509:Pcdh7'
ID 581944
Institutional Source Beutler Lab
Gene Symbol Pcdh7
Ensembl Gene ENSMUSG00000029108
Gene Name protocadherin 7
Synonyms BH-protocadherin
MMRRC Submission 045582-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R7509 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 57875309-58290572 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57877529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 361 (D361E)
Ref Sequence ENSEMBL: ENSMUSP00000142319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068110] [ENSMUST00000094783] [ENSMUST00000191837] [ENSMUST00000199310]
AlphaFold A0A0A6YY83
Predicted Effect probably damaging
Transcript: ENSMUST00000068110
AA Change: D361E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066306
Gene: ENSMUSG00000029108
AA Change: D361E

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
SMART Domains Protein: ENSMUSP00000092376
Gene: ENSMUSG00000029108
AA Change: D361E

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: D361E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: D361E

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
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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 A G 7: 119,133,611 (GRCm39) S259G probably benign Het
Adamts16 G T 13: 70,935,283 (GRCm39) N436K probably damaging Het
Asb3 T A 11: 30,948,507 (GRCm39) M61K probably benign Het
Catspere2 A G 1: 177,905,078 (GRCm39) T163A possibly damaging Het
Ccser2 A G 14: 36,660,602 (GRCm39) L517P probably damaging Het
Cd226 A G 18: 89,265,195 (GRCm39) T158A probably benign Het
Chd6 A T 2: 160,855,074 (GRCm39) I778N probably damaging Het
Cnga4 T C 7: 105,056,097 (GRCm39) V336A probably benign Het
Cpd C T 11: 76,688,702 (GRCm39) V857I probably benign Het
Cpm A G 10: 117,495,745 (GRCm39) Y78C probably damaging Het
Cst7 A T 2: 150,419,624 (GRCm39) T97S probably benign Het
Cttnbp2nl T C 3: 104,940,046 (GRCm39) K8E possibly damaging Het
Erbb4 A T 1: 68,289,739 (GRCm39) D767E possibly damaging Het
Esyt2 T C 12: 116,329,496 (GRCm39) S685P probably damaging Het
Fam110d A C 4: 133,979,424 (GRCm39) V18G probably damaging Het
Gcfc2 T C 6: 81,930,256 (GRCm39) L641P probably damaging Het
Gcnt4 T A 13: 97,083,678 (GRCm39) F325I probably benign Het
Glg1 T G 8: 111,985,675 (GRCm39) S52R probably benign Het
Gm10577 G A 4: 100,877,848 (GRCm39) L16F unknown Het
Gm14326 C T 2: 177,587,493 (GRCm39) G501D probably benign Het
Gm1587 G A 14: 78,034,464 (GRCm39) P35S unknown Het
Gpd1 G A 15: 99,619,967 (GRCm39) S255N probably damaging Het
Helb T A 10: 119,925,719 (GRCm39) H886L probably damaging Het
Hgsnat A G 8: 26,445,754 (GRCm39) V380A probably damaging Het
Hmbs T A 9: 44,248,208 (GRCm39) R125S Het
Hsd17b4 A T 18: 50,297,749 (GRCm39) Y346F probably damaging Het
Inpp4a T C 1: 37,426,911 (GRCm39) L624P probably damaging Het
Irak2 AC ACC 6: 113,667,859 (GRCm39) probably null Het
Itga11 C T 9: 62,689,222 (GRCm39) T1129I probably benign Het
Itih4 G A 14: 30,617,404 (GRCm39) V575I probably benign Het
Kcnn2 A G 18: 45,816,187 (GRCm39) T473A probably benign Het
Kidins220 T C 12: 25,032,360 (GRCm39) V31A probably damaging Het
Lrch1 G A 14: 75,185,048 (GRCm39) T18I probably benign Het
Ly6e T C 15: 74,830,135 (GRCm39) F30L probably damaging Het
Med13l A G 5: 118,886,995 (GRCm39) D1632G probably damaging Het
Mei4 T A 9: 81,907,630 (GRCm39) L320Q probably damaging Het
Mlip T G 9: 77,088,678 (GRCm39) T197P probably damaging Het
Mon2 G A 10: 122,868,457 (GRCm39) A532V probably benign Het
Myh1 C T 11: 67,101,287 (GRCm39) P688S probably benign Het
Ncapg G A 5: 45,853,450 (GRCm39) D900N probably benign Het
Neurl1b C G 17: 26,657,720 (GRCm39) H219Q probably benign Het
Ntn4 A G 10: 93,546,430 (GRCm39) N361S probably benign Het
Nudt16l1 T A 16: 4,757,082 (GRCm39) H26Q probably damaging Het
Obscn G A 11: 58,942,455 (GRCm39) T4348I probably benign Het
Or10d4b T A 9: 39,534,623 (GRCm39) I66N probably damaging Het
Or8c20 T A 9: 38,260,868 (GRCm39) M157K probably benign Het
Pcdhb7 C A 18: 37,475,074 (GRCm39) T70K possibly damaging Het
Pcdhga3 T A 18: 37,808,910 (GRCm39) Y454* probably null Het
Pigc A T 1: 161,798,545 (GRCm39) T176S probably benign Het
Pola2 A T 19: 6,011,194 (GRCm39) S43R probably benign Het
Pole A T 5: 110,478,571 (GRCm39) probably benign Het
Polq C A 16: 36,880,705 (GRCm39) D956E probably benign Het
Polq T A 16: 36,880,706 (GRCm39) C957S probably benign Het
Ppp3cc G A 14: 70,504,131 (GRCm39) T107I probably damaging Het
Prss39 C A 1: 34,539,280 (GRCm39) H173Q possibly damaging Het
Reep4 A G 14: 70,785,928 (GRCm39) D256G probably benign Het
Rfc3 A G 5: 151,570,975 (GRCm39) V107A probably damaging Het
Slc19a3 A G 1: 83,003,981 (GRCm39) L40P probably damaging Het
Slc29a4 C T 5: 142,704,261 (GRCm39) P305L probably benign Het
Strada C A 11: 106,077,920 (GRCm39) V15F unknown Het
Suco A T 1: 161,672,903 (GRCm39) S440T probably damaging Het
Svep1 A T 4: 58,090,683 (GRCm39) C1595S probably benign Het
Synpo G T 18: 60,736,566 (GRCm39) T460K probably damaging Het
Tagap A T 17: 8,147,568 (GRCm39) I93F probably damaging Het
Tmtc3 A T 10: 100,301,956 (GRCm39) F331Y probably damaging Het
Tnpo1 A C 13: 99,006,751 (GRCm39) I225M probably benign Het
Tollip A T 7: 141,445,878 (GRCm39) M70K probably benign Het
Trpm7 A T 2: 126,691,842 (GRCm39) I171N probably damaging Het
Ttc41 G T 10: 86,549,296 (GRCm39) E163D probably damaging Het
Vmn2r17 A T 5: 109,575,695 (GRCm39) T189S probably benign Het
Vmn2r20 C T 6: 123,362,382 (GRCm39) V801I probably benign Het
Vmn2r82 G A 10: 79,231,842 (GRCm39) V614I possibly damaging Het
Vmn2r96 G A 17: 18,802,995 (GRCm39) E302K probably benign Het
Vwf T C 6: 125,619,132 (GRCm39) F1270S Het
Wdr3 A T 3: 100,058,503 (GRCm39) F367L probably benign Het
Zfp592 A G 7: 80,688,088 (GRCm39) S1005G 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
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
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'- GACGTGAATGACAACAGCCC -3'
(R):5'- ACATCTTCGGCTACGTTGGC -3'

Sequencing Primer
(F):5'- CCCGCTTCGAGAAGAGC -3'
(R):5'- ACCCCGTCCTTAAGTGGGATG -3'
Posted On 2019-10-17