Incidental Mutation 'R2060:Cdh7'
ID 228533
Institutional Source Beutler Lab
Gene Symbol Cdh7
Ensembl Gene ENSMUSG00000026312
Gene Name cadherin 7, type 2
Synonyms CDH7L1
MMRRC Submission 040065-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2060 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 109982431-110140157 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to C at 110048877 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Proline at position 91 (A91P)
Ref Sequence ENSEMBL: ENSMUSP00000129715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027542] [ENSMUST00000112701] [ENSMUST00000131464] [ENSMUST00000172005]
AlphaFold Q8BM92
Predicted Effect probably damaging
Transcript: ENSMUST00000027542
AA Change: A91P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027542
Gene: ENSMUSG00000026312
AA Change: A91P

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
CA 70 151 5.77e-16 SMART
CA 175 260 2.9e-30 SMART
CA 284 376 1.96e-18 SMART
CA 399 480 1.19e-26 SMART
CA 503 590 2.26e-9 SMART
transmembrane domain 606 628 N/A INTRINSIC
Pfam:Cadherin_C 633 778 6e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112701
AA Change: A91P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108321
Gene: ENSMUSG00000026312
AA Change: A91P

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
CA 70 151 5.77e-16 SMART
CA 175 260 2.9e-30 SMART
CA 284 376 1.96e-18 SMART
CA 399 480 1.19e-26 SMART
CA 503 590 2.26e-9 SMART
transmembrane domain 606 628 N/A INTRINSIC
Pfam:Cadherin_C 631 779 4e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131464
SMART Domains Protein: ENSMUSP00000138046
Gene: ENSMUSG00000026312

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
PDB:1ZVN|B 49 70 1e-9 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000172005
AA Change: A91P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129715
Gene: ENSMUSG00000026312
AA Change: A91P

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
CA 70 151 5.77e-16 SMART
CA 175 260 2.9e-30 SMART
CA 284 376 1.96e-18 SMART
CA 399 480 1.19e-26 SMART
CA 503 590 2.26e-9 SMART
transmembrane domain 606 628 N/A INTRINSIC
Pfam:Cadherin_C 631 779 4e-58 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related cadherin gene on chromosome 1. [provided by RefSeq, Oct 2015]
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 129 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8430408G22Rik G A 6: 116,651,722 (GRCm38) V9M possibly damaging Het
Abca14 G A 7: 120,227,518 (GRCm38) W462* probably null Het
Aftph A T 11: 20,692,571 (GRCm38) Y821N probably damaging Het
Ahnak A T 19: 9,008,041 (GRCm38) M2230L probably benign Het
Arfgap1 T C 2: 180,972,782 (GRCm38) F144L probably benign Het
Arid4b C T 13: 14,195,452 (GRCm38) R1178C probably damaging Het
Asb8 A T 15: 98,141,373 (GRCm38) C49S possibly damaging Het
Baz1b A G 5: 135,205,114 (GRCm38) N165S probably damaging Het
BC017158 A G 7: 128,288,331 (GRCm38) L176P probably damaging Het
Bod1l A T 5: 41,808,742 (GRCm38) I2660N possibly damaging Het
C2cd3 T C 7: 100,454,948 (GRCm38) I825T probably damaging Het
C4b A G 17: 34,736,101 (GRCm38) W804R probably damaging Het
Cadm3 A T 1: 173,344,402 (GRCm38) D201E probably damaging Het
Cdh17 T C 4: 11,803,982 (GRCm38) F552L probably benign Het
Cela1 A G 15: 100,675,322 (GRCm38) probably null Het
Clk3 T C 9: 57,751,117 (GRCm38) Y582C probably damaging Het
Cma1 C T 14: 55,943,698 (GRCm38) probably null Het
Ctcfl A G 2: 173,118,506 (GRCm38) S95P probably benign Het
Cylc1 C A X: 111,123,123 (GRCm38) T391K unknown Het
Cyp3a11 T A 5: 145,855,081 (GRCm38) I501L probably benign Het
Cyp3a59 T A 5: 146,104,714 (GRCm38) L356Q probably damaging Het
Dcdc2a A C 13: 25,107,710 (GRCm38) D226A possibly damaging Het
Dlec1 A C 9: 119,112,086 (GRCm38) T235P probably damaging Het
Dnaaf1 G A 8: 119,590,602 (GRCm38) R290Q probably benign Het
Dnaaf5 C T 5: 139,178,003 (GRCm38) R377W probably damaging Het
Dpep1 T A 8: 123,200,391 (GRCm38) V293E probably damaging Het
Drosha T A 15: 12,924,159 (GRCm38) V1209E possibly damaging Het
Dync2h1 T G 9: 7,162,802 (GRCm38) I596L possibly damaging Het
Edem1 T A 6: 108,854,287 (GRCm38) Y570N probably damaging Het
Edrf1 G T 7: 133,657,129 (GRCm38) E9* probably null Het
Enpep T A 3: 129,280,523 (GRCm38) N792Y probably benign Het
Enpp2 A T 15: 54,875,714 (GRCm38) M391K probably damaging Het
Fanca A C 8: 123,274,481 (GRCm38) V1105G probably damaging Het
Fbxo22 T A 9: 55,218,383 (GRCm38) L74I probably damaging Het
Fchsd2 T A 7: 101,277,417 (GRCm38) F571L probably benign Het
Fhad1 T C 4: 141,899,249 (GRCm38) D1345G probably benign Het
G2e3 T C 12: 51,372,606 (GRCm38) F702L probably damaging Het
Glce A T 9: 62,060,946 (GRCm38) S308T possibly damaging Het
Glt1d1 A G 5: 127,657,119 (GRCm38) D119G probably benign Het
Gpr137c T C 14: 45,244,159 (GRCm38) I144T probably damaging Het
Gprin3 A G 6: 59,354,519 (GRCm38) C268R possibly damaging Het
Hadha G A 5: 30,128,836 (GRCm38) T395M probably benign Het
Hdhd2 T G 18: 76,965,042 (GRCm38) probably null Het
Homer2 C T 7: 81,618,703 (GRCm38) E70K probably benign Het
Hp1bp3 T A 4: 138,240,672 (GRCm38) D397E probably damaging Het
Hrh3 T C 2: 180,101,250 (GRCm38) N195S possibly damaging Het
Hyou1 T C 9: 44,381,552 (GRCm38) V153A probably benign Het
Igf2r A T 17: 12,701,319 (GRCm38) S1378T possibly damaging Het
Ints4 G A 7: 97,501,763 (GRCm38) R279H possibly damaging Het
Itga10 A T 3: 96,654,998 (GRCm38) R699* probably null Het
Itpkb A G 1: 180,421,858 (GRCm38) T933A probably benign Het
Itsn2 T G 12: 4,627,879 (GRCm38) F79V probably damaging Het
Jak3 A T 8: 71,683,415 (GRCm38) K620* probably null Het
Jak3 C A 8: 71,680,714 (GRCm38) C350* probably null Het
Kcnq5 T C 1: 21,461,597 (GRCm38) S421G probably benign Het
Kdm2b A T 5: 122,883,365 (GRCm38) M50K probably damaging Het
Klk1b1 A G 7: 43,970,623 (GRCm38) D170G possibly damaging Het
Lama3 A T 18: 12,528,726 (GRCm38) T2160S probably benign Het
Lman1 A T 18: 65,998,352 (GRCm38) probably benign Het
Lmtk3 G A 7: 45,800,911 (GRCm38) probably null Het
Ltb A G 17: 35,195,763 (GRCm38) R180G probably damaging Het
Ltbp4 C T 7: 27,308,953 (GRCm38) R1310Q probably damaging Het
Macf1 T A 4: 123,499,919 (GRCm38) probably null Het
Mast4 G T 13: 102,738,846 (GRCm38) P1146Q probably damaging Het
Micall2 C T 5: 139,711,562 (GRCm38) S678N probably damaging Het
Mon2 A T 10: 122,995,776 (GRCm38) I1675N probably damaging Het
Mug2 A G 6: 122,079,612 (GRCm38) N1172S probably benign Het
Naa30 C G 14: 49,173,099 (GRCm38) S161R possibly damaging Het
Ncaph T C 2: 127,124,875 (GRCm38) N220D probably damaging Het
Nell1 T C 7: 50,560,830 (GRCm38) V497A possibly damaging Het
Ngly1 A G 14: 16,277,877 (GRCm38) N142S possibly damaging Het
Nin T A 12: 70,042,418 (GRCm38) T1408S possibly damaging Het
Nlrp4g T A 9: 124,349,693 (GRCm38) noncoding transcript Het
Nrg1 T G 8: 31,918,015 (GRCm38) E63D probably damaging Het
Ntn4 C T 10: 93,707,353 (GRCm38) R314W probably damaging Het
Olfr1167 T C 2: 88,149,143 (GRCm38) Y292C probably damaging Het
Olfr128 A G 17: 37,923,880 (GRCm38) T105A probably benign Het
Olfr473 C T 7: 107,933,661 (GRCm38) T47M probably benign Het
Olfr522 T A 7: 140,162,824 (GRCm38) E42V probably damaging Het
Olfr845 A G 9: 19,339,056 (GRCm38) I199V probably benign Het
Olfr851 T A 9: 19,497,237 (GRCm38) V163E possibly damaging Het
Olfr867 A T 9: 20,054,596 (GRCm38) I289N probably damaging Het
Olfr998 G A 2: 85,591,283 (GRCm38) V248I possibly damaging Het
Orc5 C T 5: 22,516,703 (GRCm38) probably null Het
Pard3 G A 8: 127,398,604 (GRCm38) R691Q probably benign Het
Pofut1 T A 2: 153,243,660 (GRCm38) D54E probably benign Het
Prl2c5 T A 13: 13,190,653 (GRCm38) V128E probably damaging Het
Ptk7 T C 17: 46,566,238 (GRCm38) M965V possibly damaging Het
Pum2 C T 12: 8,728,726 (GRCm38) R459* probably null Het
Pzp A T 6: 128,483,710 (GRCm38) N1494K probably benign Het
Rad21l A G 2: 151,645,429 (GRCm38) V545A probably benign Het
Rps6kc1 A T 1: 190,810,108 (GRCm38) M352K possibly damaging Het
Rpusd2 G A 2: 119,037,215 (GRCm38) probably null Het
Rsph14 A T 10: 75,029,771 (GRCm38) D78E probably damaging Het
Rtl9 A T X: 143,102,030 (GRCm38) M813L possibly damaging Het
Rtp4 A T 16: 23,612,940 (GRCm38) H74L probably damaging Het
Rusc1 G A 3: 89,087,848 (GRCm38) T725I possibly damaging Het
Ryr2 C T 13: 11,595,736 (GRCm38) C4068Y probably damaging Het
Ryr3 A G 2: 112,954,364 (GRCm38) V224A possibly damaging Het
Shprh A T 10: 11,152,120 (GRCm38) N157I probably benign Het
Siglece A G 7: 43,657,786 (GRCm38) I67T probably benign Het
Slc9b2 A T 3: 135,326,266 (GRCm38) T296S probably damaging Het
Sorbs2 A G 8: 45,775,629 (GRCm38) K276E probably damaging Het
Synj2 A G 17: 6,037,480 (GRCm38) T1269A probably benign Het
Taar7b T C 10: 24,000,675 (GRCm38) I246T possibly damaging Het
Taldo1 A G 7: 141,396,154 (GRCm38) Y113C probably damaging Het
Tarbp1 A T 8: 126,447,594 (GRCm38) probably null Het
Tars C T 15: 11,394,373 (GRCm38) M59I probably benign Het
Tas2r130 G A 6: 131,630,817 (GRCm38) T5I probably benign Het
Tex48 T C 4: 63,607,415 (GRCm38) E77G probably damaging Het
Tmco5 A G 2: 116,892,255 (GRCm38) R286G probably damaging Het
Trdmt1 A T 2: 13,519,914 (GRCm38) H243Q probably benign Het
Ttn G A 2: 76,897,580 (GRCm38) probably benign Het
Ttn T A 2: 76,734,294 (GRCm38) R26754* probably null Het
Ubqln3 A C 7: 104,142,151 (GRCm38) L244R probably damaging Het
Ubxn1 C T 19: 8,873,566 (GRCm38) R115* probably null Het
Umod T G 7: 119,476,715 (GRCm38) N276T probably damaging Het
Unc13c A T 9: 73,665,656 (GRCm38) L1528Q probably damaging Het
Unc80 T A 1: 66,640,595 (GRCm38) H2108Q possibly damaging Het
Utp20 A C 10: 88,774,795 (GRCm38) D1442E probably damaging Het
Utp4 A G 8: 106,898,521 (GRCm38) Q144R probably benign Het
Vmn2r17 T A 5: 109,427,209 (GRCm38) N127K probably benign Het
Vmn2r75 T A 7: 86,165,164 (GRCm38) T374S probably benign Het
Washc5 A G 15: 59,350,408 (GRCm38) F523L probably damaging Het
Wdr3 A T 3: 100,159,897 (GRCm38) probably null Het
Wdr89 T C 12: 75,632,988 (GRCm38) Y164C probably damaging Het
Xpo5 T C 17: 46,225,091 (GRCm38) S550P probably damaging Het
Zfp69 T C 4: 120,930,832 (GRCm38) T429A probably damaging Het
Zfpm1 G T 8: 122,336,592 (GRCm38) G797C probably benign Het
Other mutations in Cdh7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Cdh7 APN 1 110,065,626 (GRCm38) missense probably benign 0.22
IGL00861:Cdh7 APN 1 110,060,988 (GRCm38) splice site probably benign
IGL01016:Cdh7 APN 1 110,108,956 (GRCm38) critical splice donor site probably null
IGL01538:Cdh7 APN 1 110,061,140 (GRCm38) missense probably damaging 1.00
IGL01763:Cdh7 APN 1 110,065,790 (GRCm38) missense probably benign 0.00
IGL01765:Cdh7 APN 1 110,061,106 (GRCm38) missense probably damaging 1.00
IGL01937:Cdh7 APN 1 110,138,096 (GRCm38) missense probably benign
IGL02020:Cdh7 APN 1 110,138,348 (GRCm38) missense probably damaging 1.00
IGL02135:Cdh7 APN 1 110,138,274 (GRCm38) nonsense probably null
IGL02285:Cdh7 APN 1 110,138,191 (GRCm38) missense probably damaging 1.00
IGL03237:Cdh7 APN 1 110,138,307 (GRCm38) missense possibly damaging 0.89
IGL03280:Cdh7 APN 1 110,108,768 (GRCm38) nonsense probably null
IGL03347:Cdh7 APN 1 110,138,243 (GRCm38) missense possibly damaging 0.53
IGL03385:Cdh7 APN 1 110,065,786 (GRCm38) missense possibly damaging 0.90
IGL02802:Cdh7 UTSW 1 110,137,925 (GRCm38) missense probably damaging 1.00
R0030:Cdh7 UTSW 1 110,138,068 (GRCm38) nonsense probably null
R0070:Cdh7 UTSW 1 110,098,372 (GRCm38) missense probably benign 0.37
R0070:Cdh7 UTSW 1 110,098,372 (GRCm38) missense probably benign 0.37
R0255:Cdh7 UTSW 1 109,994,306 (GRCm38) missense probably benign 0.09
R0365:Cdh7 UTSW 1 110,108,756 (GRCm38) missense probably damaging 1.00
R0506:Cdh7 UTSW 1 110,100,114 (GRCm38) missense probably damaging 1.00
R0549:Cdh7 UTSW 1 110,108,944 (GRCm38) missense probably damaging 1.00
R0599:Cdh7 UTSW 1 110,052,966 (GRCm38) missense probably damaging 1.00
R0648:Cdh7 UTSW 1 110,065,607 (GRCm38) splice site probably benign
R1033:Cdh7 UTSW 1 110,085,053 (GRCm38) missense probably damaging 0.96
R1173:Cdh7 UTSW 1 110,061,132 (GRCm38) missense probably benign 0.10
R1174:Cdh7 UTSW 1 110,061,132 (GRCm38) missense probably benign 0.10
R1175:Cdh7 UTSW 1 110,061,132 (GRCm38) missense probably benign 0.10
R1403:Cdh7 UTSW 1 110,061,132 (GRCm38) missense probably benign 0.10
R1403:Cdh7 UTSW 1 110,061,132 (GRCm38) missense probably benign 0.10
R1406:Cdh7 UTSW 1 110,061,132 (GRCm38) missense probably benign 0.10
R1406:Cdh7 UTSW 1 110,061,132 (GRCm38) missense probably benign 0.10
R1587:Cdh7 UTSW 1 110,100,027 (GRCm38) missense probably damaging 0.98
R1728:Cdh7 UTSW 1 110,065,735 (GRCm38) missense possibly damaging 0.53
R1729:Cdh7 UTSW 1 110,065,735 (GRCm38) missense possibly damaging 0.53
R1730:Cdh7 UTSW 1 110,065,735 (GRCm38) missense possibly damaging 0.53
R1739:Cdh7 UTSW 1 110,065,735 (GRCm38) missense possibly damaging 0.53
R1762:Cdh7 UTSW 1 110,065,735 (GRCm38) missense possibly damaging 0.53
R1769:Cdh7 UTSW 1 110,052,876 (GRCm38) missense probably damaging 1.00
R1783:Cdh7 UTSW 1 110,065,735 (GRCm38) missense possibly damaging 0.53
R1785:Cdh7 UTSW 1 110,065,735 (GRCm38) missense possibly damaging 0.53
R1940:Cdh7 UTSW 1 110,049,024 (GRCm38) missense probably benign 0.09
R1972:Cdh7 UTSW 1 110,061,132 (GRCm38) missense probably benign 0.10
R1973:Cdh7 UTSW 1 110,061,132 (GRCm38) missense probably benign 0.10
R1997:Cdh7 UTSW 1 110,048,938 (GRCm38) missense probably damaging 1.00
R2068:Cdh7 UTSW 1 110,137,936 (GRCm38) nonsense probably null
R2069:Cdh7 UTSW 1 110,138,159 (GRCm38) missense probably damaging 1.00
R2137:Cdh7 UTSW 1 110,100,106 (GRCm38) missense probably damaging 0.97
R2155:Cdh7 UTSW 1 110,048,864 (GRCm38) missense probably damaging 1.00
R3780:Cdh7 UTSW 1 110,049,004 (GRCm38) missense probably benign 0.45
R3781:Cdh7 UTSW 1 110,049,004 (GRCm38) missense probably benign 0.45
R3782:Cdh7 UTSW 1 110,049,004 (GRCm38) missense probably benign 0.45
R4115:Cdh7 UTSW 1 110,138,309 (GRCm38) missense probably benign 0.37
R4277:Cdh7 UTSW 1 110,065,688 (GRCm38) missense probably benign 0.00
R4299:Cdh7 UTSW 1 110,061,001 (GRCm38) missense probably damaging 0.99
R4777:Cdh7 UTSW 1 109,994,325 (GRCm38) nonsense probably null
R4907:Cdh7 UTSW 1 110,138,323 (GRCm38) missense probably damaging 1.00
R5045:Cdh7 UTSW 1 110,098,350 (GRCm38) missense probably benign 0.01
R5059:Cdh7 UTSW 1 110,065,700 (GRCm38) missense probably damaging 0.98
R5146:Cdh7 UTSW 1 109,994,312 (GRCm38) missense probably damaging 0.97
R5196:Cdh7 UTSW 1 110,138,000 (GRCm38) missense probably damaging 0.99
R5304:Cdh7 UTSW 1 110,108,839 (GRCm38) missense probably damaging 1.00
R5496:Cdh7 UTSW 1 110,048,917 (GRCm38) missense probably damaging 1.00
R5743:Cdh7 UTSW 1 110,108,845 (GRCm38) missense probably damaging 1.00
R5867:Cdh7 UTSW 1 110,048,851 (GRCm38) missense probably damaging 1.00
R6042:Cdh7 UTSW 1 110,138,267 (GRCm38) missense probably damaging 0.97
R6092:Cdh7 UTSW 1 110,098,306 (GRCm38) missense probably benign 0.00
R6497:Cdh7 UTSW 1 110,065,798 (GRCm38) critical splice donor site probably null
R7111:Cdh7 UTSW 1 110,137,908 (GRCm38) missense
R7511:Cdh7 UTSW 1 109,997,853 (GRCm38) intron probably benign
R7532:Cdh7 UTSW 1 110,138,159 (GRCm38) missense probably damaging 1.00
R7879:Cdh7 UTSW 1 110,048,947 (GRCm38) missense probably benign 0.01
R7978:Cdh7 UTSW 1 109,994,105 (GRCm38) start gained probably benign
R8022:Cdh7 UTSW 1 110,061,108 (GRCm38) missense probably benign 0.02
R8207:Cdh7 UTSW 1 109,994,346 (GRCm38) missense probably damaging 1.00
R8224:Cdh7 UTSW 1 109,994,203 (GRCm38) missense probably benign
R8239:Cdh7 UTSW 1 110,100,102 (GRCm38) missense probably benign 0.11
R8749:Cdh7 UTSW 1 110,099,279 (GRCm38) missense probably damaging 1.00
R8884:Cdh7 UTSW 1 110,100,130 (GRCm38) missense probably damaging 1.00
R9030:Cdh7 UTSW 1 110,100,113 (GRCm38) missense probably benign 0.21
R9498:Cdh7 UTSW 1 110,048,905 (GRCm38) missense probably benign 0.03
R9658:Cdh7 UTSW 1 110,061,055 (GRCm38) missense probably damaging 0.99
Z1088:Cdh7 UTSW 1 110,085,123 (GRCm38) missense probably benign 0.01
Z1176:Cdh7 UTSW 1 110,108,736 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTTAGCACAATCAGCACTTAGC -3'
(R):5'- ATGGACCATCTAGAAATTTGGGTTC -3'

Sequencing Primer
(F):5'- GCACTTAGCTCATCTTTCCAAAAAC -3'
(R):5'- CCATCTAGAAATTTGGGTTCATTGTC -3'
Posted On 2014-09-17