Incidental Mutation 'R7463:Pcdh7'
ID 578552
Institutional Source Beutler Lab
Gene Symbol Pcdh7
Ensembl Gene ENSMUSG00000029108
Gene Name protocadherin 7
Synonyms BH-protocadherin
MMRRC Submission 045537-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R7463 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 57717967-58133230 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57720998 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 632 (K632E)
Ref Sequence ENSEMBL: ENSMUSP00000142319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068110] [ENSMUST00000094783] [ENSMUST00000191837] [ENSMUST00000199310]
AlphaFold A0A0A6YY83
Predicted Effect possibly damaging
Transcript: ENSMUST00000068110
AA Change: K632E

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000066306
Gene: ENSMUSG00000029108
AA Change: K632E

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: K632E

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: ENSMUST00000191837
AA Change: K632E

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: K632E

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 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: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.7%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,323,772 (GRCm38) V435E probably damaging Het
Acta2 G A 19: 34,252,531 (GRCm38) T8I probably benign Het
Adcy2 T C 13: 68,730,280 (GRCm38) D413G probably damaging Het
Adgrg6 T A 10: 14,434,396 (GRCm38) D727V possibly damaging Het
Aebp2 C T 6: 140,637,726 (GRCm38) Q309* probably null Het
Amy1 A T 3: 113,569,884 (GRCm38) C43* probably null Het
Bpifc T C 10: 85,979,334 (GRCm38) E256G probably benign Het
Bysl A T 17: 47,602,471 (GRCm38) S296T probably benign Het
Carmil3 C T 14: 55,502,396 (GRCm38) P980L probably damaging Het
Coch T A 12: 51,593,625 (GRCm38) M1K probably null Het
Cpt2 A T 4: 107,908,157 (GRCm38) F137I probably damaging Het
Crem T C 18: 3,295,094 (GRCm38) I112V probably benign Het
Cul9 A G 17: 46,520,476 (GRCm38) probably null Het
Cyp3a41a T A 5: 145,713,564 (GRCm38) I90F probably damaging Het
Cyp4f16 C T 17: 32,550,787 (GRCm38) A457V possibly damaging Het
Ddx6 A G 9: 44,628,729 (GRCm38) E318G probably damaging Het
Dip2b A G 15: 100,154,157 (GRCm38) E213G probably benign Het
Dlx5 T C 6: 6,878,316 (GRCm38) H238R probably damaging Het
Dnaic2 A C 11: 114,754,406 (GRCm38) I556L probably benign Het
Dnmt1 C T 9: 20,912,225 (GRCm38) V1147M possibly damaging Het
Egf G T 3: 129,740,015 (GRCm38) Q59K probably benign Het
Ermp1 A T 19: 29,646,262 (GRCm38) Y109* probably null Het
Fer1l6 T A 15: 58,573,601 (GRCm38) Y573* probably null Het
Fmnl1 T C 11: 103,193,128 (GRCm38) L503P probably damaging Het
Gnptab T G 10: 88,431,389 (GRCm38) I447M probably damaging Het
Hgf G A 5: 16,578,450 (GRCm38) D253N probably benign Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,266,277 (GRCm38) probably benign Het
Igf2r T C 17: 12,710,645 (GRCm38) T958A probably benign Het
Kcnd2 T A 6: 21,216,498 (GRCm38) L67Q probably damaging Het
Kif5a A G 10: 127,243,724 (GRCm38) V248A probably damaging Het
Krt33b A G 11: 100,029,563 (GRCm38) I88T probably damaging Het
Lhx2 G A 2: 38,351,846 (GRCm38) E25K possibly damaging Het
Mex3d C T 10: 80,381,698 (GRCm38) G562R Het
Myom2 A T 8: 15,117,679 (GRCm38) Y1088F probably null Het
Ncapg T A 5: 45,694,092 (GRCm38) probably null Het
Nudc A C 4: 133,534,403 (GRCm38) V190G possibly damaging Het
Obscn G T 11: 59,122,860 (GRCm38) R1054S probably benign Het
Olfr1045 T C 2: 86,197,838 (GRCm38) M305V probably benign Het
Olfr1510 A G 14: 52,410,711 (GRCm38) W54R probably benign Het
Olfr651 T C 7: 104,553,482 (GRCm38) S188P possibly damaging Het
Olfr683 T A 7: 105,143,937 (GRCm38) M119L probably benign Het
Olfr710 A T 7: 106,944,173 (GRCm38) V276E probably damaging Het
Olfr979 A G 9: 40,000,564 (GRCm38) V221A probably benign Het
Pcdh10 A T 3: 45,383,572 (GRCm38) R891S possibly damaging Het
Pcdh15 C T 10: 74,631,770 (GRCm38) S1873L possibly damaging Het
Pcdhgb8 G A 18: 37,763,427 (GRCm38) A517T probably damaging Het
Ptgr2 A T 12: 84,292,298 (GRCm38) probably benign Het
Ptpn18 G A 1: 34,473,364 (GRCm38) D417N possibly damaging Het
Racgap1 T A 15: 99,642,958 (GRCm38) T4S probably benign Het
Rb1cc1 A G 1: 6,249,180 (GRCm38) H941R probably benign Het
Reln T C 5: 22,103,435 (GRCm38) H312R probably damaging Het
Rnf166 T A 8: 122,467,987 (GRCm38) H208L probably damaging Het
Theg T C 10: 79,576,715 (GRCm38) E314G probably damaging Het
Timeless T C 10: 128,250,426 (GRCm38) S999P probably benign Het
Tmem94 G T 11: 115,786,256 (GRCm38) R118L possibly damaging Het
Tor1aip1 A T 1: 156,007,609 (GRCm38) H349Q possibly damaging Het
Ttn T A 2: 76,920,460 (GRCm38) E3415V probably benign Het
Vmn2r102 A T 17: 19,676,624 (GRCm38) N78Y probably damaging Het
Wdr11 A T 7: 129,607,086 (GRCm38) D427V probably damaging Het
Zer1 A T 2: 30,113,437 (GRCm38) probably benign Het
Zfp516 T A 18: 82,957,108 (GRCm38) M477K probably benign Het
Other mutations in Pcdh7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Pcdh7 APN 5 57,721,464 (GRCm38) missense probably damaging 1.00
IGL00920:Pcdh7 APN 5 57,720,131 (GRCm38) missense probably damaging 0.96
IGL00990:Pcdh7 APN 5 57,720,464 (GRCm38) missense possibly damaging 0.94
IGL01367:Pcdh7 APN 5 58,129,224 (GRCm38) missense possibly damaging 0.67
IGL01388:Pcdh7 APN 5 57,720,204 (GRCm38) missense probably damaging 1.00
IGL01543:Pcdh7 APN 5 57,720,765 (GRCm38) missense probably damaging 1.00
IGL01750:Pcdh7 APN 5 57,720,422 (GRCm38) missense probably damaging 1.00
IGL02010:Pcdh7 APN 5 58,129,255 (GRCm38) missense probably benign
IGL02014:Pcdh7 APN 5 57,719,703 (GRCm38) missense probably benign 0.03
IGL02269:Pcdh7 APN 5 57,913,322 (GRCm38) missense probably damaging 1.00
IGL03051:Pcdh7 APN 5 58,129,073 (GRCm38) missense probably damaging 0.99
floated UTSW 5 57,721,362 (GRCm38) missense probably damaging 1.00
proposed UTSW 5 57,722,240 (GRCm38) missense probably damaging 0.99
P0037:Pcdh7 UTSW 5 57,913,248 (GRCm38) missense probably benign 0.17
R0003:Pcdh7 UTSW 5 57,913,248 (GRCm38) missense probably benign 0.17
R0421:Pcdh7 UTSW 5 57,720,060 (GRCm38) missense probably damaging 1.00
R0551:Pcdh7 UTSW 5 57,721,994 (GRCm38) missense probably damaging 0.99
R0562:Pcdh7 UTSW 5 57,720,063 (GRCm38) missense probably damaging 0.99
R0732:Pcdh7 UTSW 5 57,721,315 (GRCm38) missense probably damaging 1.00
R0755:Pcdh7 UTSW 5 57,720,322 (GRCm38) missense possibly damaging 0.86
R1080:Pcdh7 UTSW 5 57,719,426 (GRCm38) missense probably damaging 1.00
R1381:Pcdh7 UTSW 5 57,721,540 (GRCm38) nonsense probably null
R1591:Pcdh7 UTSW 5 57,720,422 (GRCm38) missense probably damaging 1.00
R1891:Pcdh7 UTSW 5 57,720,875 (GRCm38) missense probably damaging 0.98
R2011:Pcdh7 UTSW 5 57,719,629 (GRCm38) missense probably damaging 1.00
R2140:Pcdh7 UTSW 5 58,128,996 (GRCm38) missense probably damaging 1.00
R2147:Pcdh7 UTSW 5 58,129,116 (GRCm38) missense possibly damaging 0.51
R2848:Pcdh7 UTSW 5 57,720,276 (GRCm38) missense probably damaging 1.00
R2867:Pcdh7 UTSW 5 57,721,894 (GRCm38) missense probably damaging 1.00
R2867:Pcdh7 UTSW 5 57,721,894 (GRCm38) missense probably damaging 1.00
R3719:Pcdh7 UTSW 5 58,129,032 (GRCm38) missense probably damaging 1.00
R4075:Pcdh7 UTSW 5 57,721,808 (GRCm38) missense probably damaging 1.00
R4231:Pcdh7 UTSW 5 57,719,289 (GRCm38) missense possibly damaging 0.94
R4236:Pcdh7 UTSW 5 57,719,289 (GRCm38) missense possibly damaging 0.94
R4352:Pcdh7 UTSW 5 57,722,019 (GRCm38) missense possibly damaging 0.88
R4420:Pcdh7 UTSW 5 58,129,170 (GRCm38) missense probably benign 0.03
R4449:Pcdh7 UTSW 5 57,720,485 (GRCm38) missense probably damaging 1.00
R4584:Pcdh7 UTSW 5 57,721,283 (GRCm38) missense probably damaging 1.00
R4686:Pcdh7 UTSW 5 58,129,169 (GRCm38) missense probably benign
R4837:Pcdh7 UTSW 5 57,720,411 (GRCm38) missense possibly damaging 0.89
R4838:Pcdh7 UTSW 5 57,720,804 (GRCm38) missense probably damaging 1.00
R4947:Pcdh7 UTSW 5 57,721,916 (GRCm38) missense probably damaging 0.98
R5053:Pcdh7 UTSW 5 57,721,601 (GRCm38) missense probably damaging 0.99
R5068:Pcdh7 UTSW 5 57,722,166 (GRCm38) missense probably damaging 1.00
R5117:Pcdh7 UTSW 5 57,721,748 (GRCm38) missense probably benign 0.09
R5132:Pcdh7 UTSW 5 57,728,121 (GRCm38) missense probably benign
R5248:Pcdh7 UTSW 5 58,129,173 (GRCm38) missense probably damaging 0.97
R5294:Pcdh7 UTSW 5 57,728,111 (GRCm38) splice site probably null
R5420:Pcdh7 UTSW 5 57,720,187 (GRCm38) missense probably damaging 1.00
R5777:Pcdh7 UTSW 5 57,719,514 (GRCm38) missense probably damaging 1.00
R5800:Pcdh7 UTSW 5 57,722,225 (GRCm38) missense probably damaging 1.00
R5834:Pcdh7 UTSW 5 57,721,628 (GRCm38) missense possibly damaging 0.90
R5870:Pcdh7 UTSW 5 57,720,411 (GRCm38) missense possibly damaging 0.89
R5917:Pcdh7 UTSW 5 57,721,755 (GRCm38) missense probably damaging 0.96
R6014:Pcdh7 UTSW 5 57,721,155 (GRCm38) missense probably damaging 0.99
R6193:Pcdh7 UTSW 5 57,720,324 (GRCm38) missense probably damaging 1.00
R6240:Pcdh7 UTSW 5 57,721,362 (GRCm38) missense probably damaging 1.00
R6335:Pcdh7 UTSW 5 57,942,265 (GRCm38) splice site probably null
R6418:Pcdh7 UTSW 5 57,721,704 (GRCm38) missense probably damaging 1.00
R6907:Pcdh7 UTSW 5 57,719,129 (GRCm38) missense possibly damaging 0.53
R7058:Pcdh7 UTSW 5 57,722,240 (GRCm38) missense probably damaging 0.99
R7069:Pcdh7 UTSW 5 57,719,784 (GRCm38) missense probably benign 0.00
R7073:Pcdh7 UTSW 5 57,720,957 (GRCm38) missense probably benign 0.19
R7509:Pcdh7 UTSW 5 57,720,187 (GRCm38) missense probably damaging 1.00
R7588:Pcdh7 UTSW 5 57,719,904 (GRCm38) missense probably damaging 1.00
R7707:Pcdh7 UTSW 5 57,720,330 (GRCm38) missense probably damaging 0.99
R7734:Pcdh7 UTSW 5 57,719,634 (GRCm38) missense probably damaging 0.99
R7899:Pcdh7 UTSW 5 57,719,810 (GRCm38) missense probably benign
R8194:Pcdh7 UTSW 5 57,720,336 (GRCm38) missense probably damaging 1.00
R8480:Pcdh7 UTSW 5 58,129,065 (GRCm38) missense probably damaging 1.00
R8890:Pcdh7 UTSW 5 57,719,375 (GRCm38) missense probably damaging 1.00
R8906:Pcdh7 UTSW 5 57,721,812 (GRCm38) missense probably damaging 1.00
R8990:Pcdh7 UTSW 5 57,722,022 (GRCm38) missense probably benign 0.06
R9264:Pcdh7 UTSW 5 58,129,321 (GRCm38) missense probably benign 0.09
R9272:Pcdh7 UTSW 5 57,721,437 (GRCm38) missense possibly damaging 0.81
R9294:Pcdh7 UTSW 5 57,721,335 (GRCm38) missense probably benign 0.39
R9518:Pcdh7 UTSW 5 57,913,171 (GRCm38) missense possibly damaging 0.81
R9597:Pcdh7 UTSW 5 57,719,855 (GRCm38) missense possibly damaging 0.68
R9642:Pcdh7 UTSW 5 57,719,375 (GRCm38) missense probably damaging 1.00
R9745:Pcdh7 UTSW 5 57,722,280 (GRCm38) critical splice donor site probably null
X0021:Pcdh7 UTSW 5 57,721,484 (GRCm38) missense possibly damaging 0.95
X0026:Pcdh7 UTSW 5 57,719,379 (GRCm38) missense probably damaging 1.00
Z1177:Pcdh7 UTSW 5 57,719,664 (GRCm38) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- ACTGGACTCCTCAGTGATGG -3'
(R):5'- AGTCTGATGTTCCCTGTCAAAAG -3'

Sequencing Primer
(F):5'- GGGGACTTTTGCCATCGATCC -3'
(R):5'- CCCTGTCAAAAGACATTGTGG -3'
Posted On 2019-10-07