Incidental Mutation 'R6014:Pcdh7'
ID 479906
Institutional Source Beutler Lab
Gene Symbol Pcdh7
Ensembl Gene ENSMUSG00000029108
Gene Name protocadherin 7
Synonyms BH-protocadherin
MMRRC Submission 044190-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R6014 (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 57878497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 684 (I684N)
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: I684N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000066306
Gene: ENSMUSG00000029108
AA Change: I684N

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 probably benign
Transcript: ENSMUST00000094783
AA Change: I684N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000092376
Gene: ENSMUSG00000029108
AA Change: I684N

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 benign
Transcript: ENSMUST00000191837
AA Change: I684N

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: I684N

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 possibly damaging
Transcript: ENSMUST00000192287
AA Change: I344N

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193156
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
Predicted Effect probably benign
Transcript: ENSMUST00000195156
Meta Mutation Damage Score 0.0865 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 100% (67/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A T 2: 35,244,881 (GRCm39) M157K probably benign Het
A2ml1 C T 6: 128,548,948 (GRCm39) C278Y probably damaging Het
Abcc2 A T 19: 43,815,174 (GRCm39) Q1187L probably benign Het
Adcy9 A T 16: 4,236,683 (GRCm39) Y6N probably damaging Het
Adh1 T C 3: 137,992,559 (GRCm39) I225T probably benign Het
Akap11 A T 14: 78,749,939 (GRCm39) I816K probably benign Het
Ap1b1 T A 11: 4,969,364 (GRCm39) M240K possibly damaging Het
Apex1 A T 14: 51,162,982 (GRCm39) T17S probably benign Het
Arhgap21 C T 2: 20,886,616 (GRCm39) G26D probably damaging Het
Bahcc1 A G 11: 120,180,615 (GRCm39) Y2613C probably benign Het
Baz1b C T 5: 135,246,248 (GRCm39) R566W probably damaging Het
Casp8ap2 A T 4: 32,641,400 (GRCm39) Y818F probably damaging Het
Col3a1 T A 1: 45,360,739 (GRCm39) C56* probably null Het
Coro2a G A 4: 46,542,261 (GRCm39) P371S probably damaging Het
Cyp2a22 T A 7: 26,638,605 (GRCm39) probably null Het
Dpysl3 T A 18: 43,494,132 (GRCm39) I183F probably damaging Het
Drc1 A T 5: 30,502,993 (GRCm39) N172I probably damaging Het
Dst T C 1: 34,303,915 (GRCm39) Y1378H probably damaging Het
Dync2i2 C T 2: 29,921,763 (GRCm39) A533T probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epb41l3 A T 17: 69,590,955 (GRCm39) T91S probably damaging Het
Exoc4 T C 6: 33,452,932 (GRCm39) V474A probably benign Het
Fam229b G A 10: 38,994,989 (GRCm39) T56I probably damaging Het
Gfm2 A G 13: 97,288,169 (GRCm39) probably null Het
Git2 C T 5: 114,871,938 (GRCm39) E152K probably benign Het
Golt1b T A 6: 142,341,943 (GRCm39) I109N probably damaging Het
Grid2ip T A 5: 143,373,578 (GRCm39) M783K possibly damaging Het
Inpp5a A G 7: 139,154,898 (GRCm39) Y339C probably damaging Het
Isoc2a T C 7: 4,894,625 (GRCm39) S103P probably damaging Het
Itih4 C A 14: 30,614,586 (GRCm39) Q483K probably benign Het
Kansl2 A G 15: 98,418,197 (GRCm39) probably null Het
Kdm5d G A Y: 921,528 (GRCm39) A509T probably benign Het
Krt13 A T 11: 100,008,437 (GRCm39) D433E unknown Het
Lat2 C T 5: 134,632,308 (GRCm39) V142M probably damaging Het
Lemd1 A C 1: 132,184,463 (GRCm39) *102S probably null Het
Lrfn2 T C 17: 49,376,934 (GRCm39) L5P possibly damaging Het
Lrrc4c T G 2: 97,459,557 (GRCm39) probably null Het
Lypla1 T A 1: 4,878,594 (GRCm39) probably null Het
Magi2 G A 5: 20,816,091 (GRCm39) G744R probably damaging Het
Myh14 T A 7: 44,274,502 (GRCm39) E948V probably null Het
Myo5a C A 9: 75,074,489 (GRCm39) Y799* probably null Het
Nacc1 A C 8: 85,401,700 (GRCm39) M371R possibly damaging Het
Nlrp5 T G 7: 23,109,372 (GRCm39) M106R probably benign Het
Oas1h C T 5: 121,005,229 (GRCm39) H226Y possibly damaging Het
Obscn A C 11: 58,929,690 (GRCm39) I5175R probably damaging Het
Pcdhb3 T A 18: 37,435,706 (GRCm39) N557K probably damaging Het
Pde3b T C 7: 114,015,675 (GRCm39) L297S probably damaging Het
Pigv G T 4: 133,392,740 (GRCm39) H143Q probably benign Het
Ptk2 T G 15: 73,176,293 (GRCm39) Y251S possibly damaging Het
Ralgds A G 2: 28,433,673 (GRCm39) N219S probably damaging Het
Sardh C A 2: 27,087,540 (GRCm39) probably null Het
Serpina3b A T 12: 104,097,356 (GRCm39) K212N possibly damaging Het
Sh3bp2 A G 5: 34,716,971 (GRCm39) N461D probably benign Het
Shisa2 A T 14: 59,867,357 (GRCm39) Q203L probably damaging Het
Shmt1 C A 11: 60,688,383 (GRCm39) G255V probably damaging Het
Socs1 T A 16: 10,602,357 (GRCm39) I127F possibly damaging Het
Srcap A T 7: 127,137,922 (GRCm39) T1091S probably benign Het
Syt14 A G 1: 192,613,003 (GRCm39) I599T probably damaging Het
Tep1 A T 14: 51,084,457 (GRCm39) N907K probably benign Het
Themis2 A G 4: 132,513,291 (GRCm39) Y312H probably benign Het
Tubgcp5 T G 7: 55,473,357 (GRCm39) S812A probably benign Het
Ush2a A T 1: 188,582,237 (GRCm39) I3767F probably damaging Het
Usp40 T A 1: 87,907,738 (GRCm39) E626V probably damaging Het
Utrn T C 10: 12,566,620 (GRCm39) R1181G probably benign Het
Vmn2r117 T A 17: 23,698,535 (GRCm39) I13F probably damaging Het
Wdr48 G T 9: 119,753,775 (GRCm39) V646F probably damaging Het
Wdr64 T C 1: 175,633,556 (GRCm39) F936L possibly 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
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'- ACCACGGTGATTGTACAGG -3'
(R):5'- TACTTGAAGGTGGCAGCAACG -3'

Sequencing Primer
(F):5'- TTGTACAGGTGGCTGATAAAAAC -3'
(R):5'- CAGCAACGTGTAGGAAATGTTTCTG -3'
Posted On 2017-06-26