Incidental Mutation 'R4947:Pcdh7'
ID 383487
Institutional Source Beutler Lab
Gene Symbol Pcdh7
Ensembl Gene ENSMUSG00000029108
Gene Name protocadherin 7
Synonyms BH-protocadherin
MMRRC Submission 042544-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R4947 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 57875309-58290572 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57879258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 938 (K938E)
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: K938E

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000066306
Gene: ENSMUSG00000029108
AA Change: K938E

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: K938E
SMART Domains Protein: ENSMUSP00000092376
Gene: ENSMUSG00000029108
AA Change: K938E

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: K938E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: K938E

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: K598E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193156
Predicted Effect unknown
Transcript: ENSMUST00000195156
AA Change: K252E
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
Meta Mutation Damage Score 0.0872 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 87.4%
Validation Efficiency 100% (88/88)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik T A 7: 130,959,343 (GRCm39) H119L probably damaging Het
Acvr1c T A 2: 58,205,987 (GRCm39) Q41L probably benign Het
Adamtsl1 A T 4: 85,683,037 (GRCm39) Q36L possibly damaging Het
Bcl2a1a G A 9: 88,839,335 (GRCm39) E78K probably damaging Het
Cdk5rap2 A G 4: 70,146,829 (GRCm39) probably null Het
Copg1 C A 6: 87,880,455 (GRCm39) probably benign Het
Crb2 C T 2: 37,685,343 (GRCm39) probably benign Het
Cstdc6 T C 16: 36,142,127 (GRCm39) Y83C probably damaging Het
Ctbp2 C A 7: 132,601,012 (GRCm39) G584C probably damaging Het
Cyp11b2 T C 15: 74,723,419 (GRCm39) N415S possibly damaging Het
D630003M21Rik T A 2: 158,028,116 (GRCm39) T1095S unknown Het
D630045J12Rik C T 6: 38,125,478 (GRCm39) R1512H probably damaging Het
Dnah5 T A 15: 28,272,518 (GRCm39) V1078E probably benign Het
Donson A T 16: 91,479,439 (GRCm39) D366E probably damaging Het
Evpl T C 11: 116,114,201 (GRCm39) E1163G possibly damaging Het
Fcgbp A G 7: 27,789,237 (GRCm39) K601R probably benign Het
Fez1 A C 9: 36,780,171 (GRCm39) I323L probably damaging Het
Flacc1 T A 1: 58,715,698 (GRCm39) T173S probably benign Het
Fmnl2 T G 2: 52,963,722 (GRCm39) S285A probably benign Het
Frem1 A G 4: 82,884,371 (GRCm39) S1194P probably damaging Het
Gm10754 A T 10: 97,518,010 (GRCm39) probably benign Het
Gm14226 A T 2: 154,866,879 (GRCm39) T279S probably benign Het
Gm16332 G A 1: 139,793,730 (GRCm39) noncoding transcript Het
Gm21718 T A 14: 51,553,416 (GRCm39) noncoding transcript Het
Gm9871 A G 6: 101,773,734 (GRCm39) noncoding transcript Het
Grm1 A G 10: 10,658,377 (GRCm39) F371S probably damaging Het
Gtdc1 T C 2: 44,481,968 (GRCm39) I128V probably null Het
H2-Q3 T A 17: 35,578,708 (GRCm39) noncoding transcript Het
Ibtk T C 9: 85,592,465 (GRCm39) T998A probably benign Het
Ifi204 A G 1: 173,583,316 (GRCm39) S301P probably damaging Het
Kcnn1 C A 8: 71,297,073 (GRCm39) A545S probably benign Het
Keap1 T G 9: 21,148,849 (GRCm39) S53R probably benign Het
Lat A G 7: 125,967,110 (GRCm39) V138A probably benign Het
Lrpprc A T 17: 85,078,966 (GRCm39) N249K probably benign Het
Lrrc40 A G 3: 157,769,472 (GRCm39) I557V probably benign Het
Maml3 A G 3: 51,763,960 (GRCm39) F335L probably benign Het
Mcmbp A T 7: 128,314,420 (GRCm39) D265E probably damaging Het
Me3 A G 7: 89,282,222 (GRCm39) H35R probably benign Het
Mif4gd C A 11: 115,500,463 (GRCm39) V32L probably benign Het
Mlana T C 19: 29,677,551 (GRCm39) S18P probably damaging Het
Mpnd T A 17: 56,317,268 (GRCm39) probably benign Het
Ms4a4b T C 19: 11,432,101 (GRCm39) V74A probably benign Het
Mta2 T C 19: 8,923,655 (GRCm39) F133L possibly damaging Het
Myo5a A G 9: 75,030,330 (GRCm39) M150V probably damaging Het
Nbr1 T C 11: 101,465,903 (GRCm39) V487A probably benign Het
Nos3 G A 5: 24,582,853 (GRCm39) C660Y probably damaging Het
Ocln T C 13: 100,676,223 (GRCm39) D90G probably damaging Het
Or12d17 T C 17: 37,777,634 (GRCm39) V179A probably damaging Het
Or1e1c C T 11: 73,266,243 (GRCm39) R223* probably null Het
Or52n5 A G 7: 104,587,949 (GRCm39) D72G possibly damaging Het
Or5h18 A G 16: 58,847,808 (GRCm39) L154P probably damaging Het
Pcgf3 T C 5: 108,635,827 (GRCm39) F166L probably benign Het
Pid1 A T 1: 84,015,981 (GRCm39) V128E possibly damaging Het
Polr3a A C 14: 24,532,532 (GRCm39) D187E probably benign Het
Prokr2 T C 2: 132,215,573 (GRCm39) D135G probably damaging Het
Rnf141 T C 7: 110,424,527 (GRCm39) T14A possibly damaging Het
Serinc1 T C 10: 57,399,141 (GRCm39) E254G probably damaging Het
Silc1 A T 12: 27,210,227 (GRCm39) noncoding transcript Het
Skint11 T C 4: 114,048,707 (GRCm39) F11L possibly damaging Het
Slc22a28 T C 19: 8,108,816 (GRCm39) T109A probably benign Het
Sntg1 C A 1: 8,853,022 (GRCm39) V43L probably damaging Het
Sp140l2 G A 1: 85,090,203 (GRCm39) A124V probably damaging Het
Strn T C 17: 78,969,208 (GRCm39) D398G probably damaging Het
Tacc2 A T 7: 130,227,629 (GRCm39) E1438V probably damaging Het
Tas2r139 A G 6: 42,118,500 (GRCm39) T211A possibly damaging Het
Tbkbp1 T C 11: 97,029,770 (GRCm39) probably benign Het
Thbs3 T C 3: 89,133,738 (GRCm39) Y897H probably damaging Het
Timm50 G T 7: 28,009,469 (GRCm39) probably benign Het
Tmem132a T C 19: 10,844,298 (GRCm39) Q100R possibly damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Unc93b1 C A 19: 3,985,871 (GRCm39) T90K probably benign Het
Upk3bl T C 5: 136,086,099 (GRCm39) probably benign Het
Vmn2r112 T A 17: 22,821,860 (GRCm39) H179Q probably benign Het
Vmn2r57 A T 7: 41,049,919 (GRCm39) F610Y probably damaging Het
Vmn2r80 T G 10: 79,030,532 (GRCm39) L786R probably damaging Het
Zc3h14 A G 12: 98,726,083 (GRCm39) T323A probably benign Het
Zfp532 T C 18: 65,758,137 (GRCm39) I690T possibly damaging Het
Zfp729b T C 13: 67,744,791 (GRCm39) N47S 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
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'- ATAGCTGGTGACCCAAGCTATG -3'
(R):5'- GATTTGTAATGCCTTGCCAGG -3'

Sequencing Primer
(F):5'- CTGGTGACCCAAGCTATGAAATTAGC -3'
(R):5'- TAATGCCTTGCCAGGTCGGG -3'
Posted On 2016-04-27