Incidental Mutation 'R9272:Pcdh7'
ID 703011
Institutional Source Beutler Lab
Gene Symbol Pcdh7
Ensembl Gene ENSMUSG00000029108
Gene Name protocadherin 7
Synonyms BH-protocadherin
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R9272 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 57875309-58290572 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57878779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 778 (D778G)
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: D778G

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000066306
Gene: ENSMUSG00000029108
AA Change: D778G

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: D778G

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 possibly damaging
Transcript: ENSMUST00000191837
AA Change: D778G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: D778G

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
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: 99.7%
  • 20x: 99.0%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik A G 6: 146,854,499 (GRCm39) V181A probably damaging Het
Abca16 T A 7: 120,076,993 (GRCm39) D686E probably benign Het
Abca8a C A 11: 109,953,908 (GRCm39) C844F probably damaging Het
Acd G A 8: 106,424,952 (GRCm39) P396L probably damaging Het
Adamtsl3 A G 7: 82,189,753 (GRCm39) Y659C probably damaging Het
Ankfn1 C T 11: 89,413,875 (GRCm39) V167M probably benign Het
Ankrd13c T A 3: 157,700,358 (GRCm39) L393Q possibly damaging Het
Arid1b G A 17: 5,386,879 (GRCm39) G1391D possibly damaging Het
Arid5b T A 10: 67,937,882 (GRCm39) D415V probably damaging Het
Arl13b G T 16: 62,647,774 (GRCm39) H45N probably benign Het
Atp13a4 A T 16: 29,268,797 (GRCm39) I519N Het
Atrnl1 T C 19: 57,643,420 (GRCm39) I436T probably benign Het
Bbx A G 16: 50,022,935 (GRCm39) I675T probably damaging Het
Bcas1 A T 2: 170,190,040 (GRCm39) V619E probably damaging Het
Cad T C 5: 31,218,576 (GRCm39) V501A possibly damaging Het
Car8 T A 4: 8,169,686 (GRCm39) N274I probably damaging Het
Ccdc3 A G 2: 5,146,143 (GRCm39) Q159R probably damaging Het
Ccdc7b A T 8: 129,893,459 (GRCm39) E95D possibly damaging Het
Cdh12 G T 15: 21,492,801 (GRCm39) probably benign Het
Col11a1 G T 3: 113,901,948 (GRCm39) G548* probably null Het
Cpb2 A G 14: 75,520,803 (GRCm39) E406G probably damaging Het
Crocc T C 4: 140,747,132 (GRCm39) S1723G probably benign Het
Ctu2 T C 8: 123,206,045 (GRCm39) V262A probably benign Het
Dmxl2 A T 9: 54,311,404 (GRCm39) N1772K possibly damaging Het
Dock3 A T 9: 106,774,569 (GRCm39) M62K probably benign Het
Dok7 G A 5: 35,214,239 (GRCm39) probably benign Het
E2f3 A G 13: 30,102,629 (GRCm39) Y211H probably damaging Het
Elapor2 T C 5: 9,460,699 (GRCm39) Y207H probably damaging Het
Fam53c T A 18: 34,895,774 (GRCm39) S25R probably damaging Het
Fhod3 T G 18: 25,030,681 (GRCm39) probably benign Het
Foxp4 A G 17: 48,180,033 (GRCm39) Y623H unknown Het
Ggt1 A T 10: 75,421,749 (GRCm39) H532L probably benign Het
Gm10775 A C 13: 65,407,770 (GRCm39) T24P unknown Het
Hinfp A G 9: 44,213,872 (GRCm39) S2P probably benign Het
Hs3st4 A G 7: 123,582,749 (GRCm39) T116A probably benign Het
Ighv5-9-1 A T 12: 113,699,818 (GRCm39) I98N probably damaging Het
Ipo11 A T 13: 107,046,713 (GRCm39) Y171N probably benign Het
Jph1 C A 1: 17,161,838 (GRCm39) A275S probably damaging Het
Kcnh6 C G 11: 105,924,860 (GRCm39) H941Q possibly damaging Het
Kcnh7 A T 2: 62,618,097 (GRCm39) I464K probably damaging Het
Lrp8 C A 4: 107,717,158 (GRCm39) P603T probably benign Het
Man1c1 C A 4: 134,291,118 (GRCm39) D593Y probably damaging Het
Mdm4 A T 1: 132,929,169 (GRCm39) I176K possibly damaging Het
Mpo T C 11: 87,686,693 (GRCm39) V139A probably benign Het
Niban3 A C 8: 72,055,520 (GRCm39) D310A probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nup98 C A 7: 101,788,037 (GRCm39) R1011L probably benign Het
Or1f12 A G 13: 21,721,864 (GRCm39) S89P possibly damaging Het
Or4k51 G A 2: 111,584,965 (GRCm39) V124M probably damaging Het
Or9g4b A T 2: 85,616,088 (GRCm39) I78L probably benign Het
Pcdhb12 T C 18: 37,570,675 (GRCm39) F607S probably damaging Het
Pcolce A G 5: 137,606,333 (GRCm39) F157L probably benign Het
Pogk T C 1: 166,226,780 (GRCm39) Y457C probably damaging Het
Ppp1r21 G A 17: 88,866,086 (GRCm39) E323K possibly damaging Het
Prkn T A 17: 11,456,527 (GRCm39) V117E probably damaging Het
Prr12 A C 7: 44,692,811 (GRCm39) F1574V probably damaging Het
Rasl2-9 A T 7: 5,128,448 (GRCm39) F161I probably damaging Het
Rb1 A G 14: 73,517,602 (GRCm39) I268T possibly damaging Het
Rin3 A T 12: 102,335,691 (GRCm39) D534V probably damaging Het
Scn5a C T 9: 119,315,717 (GRCm39) G1664S probably damaging Het
Sin3b T C 8: 73,471,168 (GRCm39) S372P probably benign Het
Snx32 T A 19: 5,548,485 (GRCm39) H65L probably damaging Het
Spidr T A 16: 15,855,544 (GRCm39) I324F probably damaging Het
Stab1 A T 14: 30,867,298 (GRCm39) F1687L probably benign Het
Taar6 T C 10: 23,860,903 (GRCm39) I214M probably benign Het
Vmn2r105 T A 17: 20,447,685 (GRCm39) N380Y 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
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
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'- GGGAACATCAGACTACGTACAC -3'
(R):5'- CACCAAAGTCGTAGTGGACTG -3'

Sequencing Primer
(F):5'- TCAGACTACGTACACTTTCAGAG -3'
(R):5'- TCGTAGTGGACTGGGAAGGC -3'
Posted On 2022-03-25