Incidental Mutation 'R2069:Cdh7'
ID 226905
Institutional Source Beutler Lab
Gene Symbol Cdh7
Ensembl Gene ENSMUSG00000026312
Gene Name cadherin 7, type 2
Synonyms CDH7L1
MMRRC Submission 040074-MU
Accession Numbers

Ncbi RefSeq: NM_172853.2; MGI:2442792

Essential gene? Non essential (E-score: 0.000) question?
Stock # R2069 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 109982431-110140157 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110138159 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 721 (D721V)
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: D721V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027542
Gene: ENSMUSG00000026312
AA Change: D721V

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: D721V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108321
Gene: ENSMUSG00000026312
AA Change: D721V

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 benign
Transcript: ENSMUST00000134301
SMART Domains Protein: ENSMUSP00000123394
Gene: ENSMUSG00000026312

DomainStartEndE-ValueType
CA 24 111 2.26e-9 SMART
transmembrane domain 125 147 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172005
AA Change: D721V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129715
Gene: ENSMUSG00000026312
AA Change: D721V

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
Meta Mutation Damage Score 0.9124 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (104/104)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik T C 5: 114,874,280 (GRCm38) V86A probably benign Het
Abcc3 A T 11: 94,364,417 (GRCm38) I601N probably damaging Het
Abl2 T A 1: 156,620,827 (GRCm38) probably null Het
Adgrf4 C T 17: 42,666,898 (GRCm38) R518Q possibly damaging Het
Ahi1 C T 10: 20,959,996 (GRCm38) T76I probably damaging Het
Arhgap42 C T 9: 9,035,600 (GRCm38) G247D probably damaging Het
Arid2 C T 15: 96,362,590 (GRCm38) L407F probably damaging Het
Atp13a1 T C 8: 69,799,773 (GRCm38) F606L probably benign Het
Avl9 T A 6: 56,736,435 (GRCm38) probably benign Het
B3glct C T 5: 149,709,380 (GRCm38) A65V probably damaging Het
Bcorl1 T C X: 48,401,917 (GRCm38) probably benign Het
Bdp1 T C 13: 100,050,988 (GRCm38) T1624A probably benign Het
Bmp15 A G X: 6,316,021 (GRCm38) M263T probably benign Het
Brd8 T C 18: 34,614,479 (GRCm38) K110E probably damaging Het
Cachd1 A G 4: 100,990,844 (GRCm38) D1052G probably damaging Het
Capn9 G A 8: 124,605,711 (GRCm38) G430R possibly damaging Het
Ccdc113 G A 8: 95,557,296 (GRCm38) E333K probably benign Het
Ccnl2 A T 4: 155,812,481 (GRCm38) probably null Het
Ccr9 T C 9: 123,779,364 (GRCm38) F37S probably benign Het
Ceacam10 A T 7: 24,778,372 (GRCm38) N104I probably damaging Het
Cenpk T A 13: 104,236,176 (GRCm38) probably benign Het
Cfi A G 3: 129,858,804 (GRCm38) probably null Het
Chd1 T C 17: 15,742,294 (GRCm38) F771S probably damaging Het
Chil4 G A 3: 106,219,455 (GRCm38) L4F probably benign Het
Cilp G A 9: 65,278,090 (GRCm38) R489Q possibly damaging Het
Cntnap5b G A 1: 100,358,725 (GRCm38) G402R probably benign Het
Coq8b A G 7: 27,257,377 (GRCm38) E485G probably damaging Het
Cse1l A G 2: 166,941,492 (GRCm38) S733G probably benign Het
Dnah5 G A 15: 28,312,388 (GRCm38) probably null Het
Dnmt3l T C 10: 78,052,732 (GRCm38) V156A probably damaging Het
Duox1 A T 2: 122,333,062 (GRCm38) T792S probably benign Het
Duox2 T C 2: 122,287,108 (GRCm38) D915G probably benign Het
Efcab5 A T 11: 77,172,321 (GRCm38) M115K probably benign Het
Eif2s1 G A 12: 78,877,185 (GRCm38) D139N probably benign Het
Erg A G 16: 95,361,078 (GRCm38) F390L probably damaging Het
Fam193b A T 13: 55,542,998 (GRCm38) S650R probably damaging Het
Fbp2 T A 13: 62,854,061 (GRCm38) K113N possibly damaging Het
Fnbp4 T G 2: 90,758,372 (GRCm38) S496A probably damaging Het
Gab3 C A X: 75,000,095 (GRCm38) R475L probably damaging Het
Gm7534 T G 4: 134,201,941 (GRCm38) N351T possibly damaging Het
Gsap T C 5: 21,226,839 (GRCm38) probably benign Het
Gucy1a2 C T 9: 3,582,697 (GRCm38) L160F probably damaging Het
Hivep1 C T 13: 42,183,786 (GRCm38) A2447V possibly damaging Het
Hrasls5 T C 19: 7,612,638 (GRCm38) S10P possibly damaging Het
Insc G T 7: 114,804,593 (GRCm38) probably null Het
Jph2 A G 2: 163,339,685 (GRCm38) S520P possibly damaging Het
Kidins220 T A 12: 24,987,006 (GRCm38) probably benign Het
Krtap29-1 A G 11: 99,978,612 (GRCm38) S148P probably damaging Het
Ltbp2 A C 12: 84,793,733 (GRCm38) C1000G probably damaging Het
Map2k3 T C 11: 60,950,027 (GRCm38) F294S probably damaging Het
Map4k2 C A 19: 6,342,738 (GRCm38) probably benign Het
Mboat2 T C 12: 24,951,443 (GRCm38) V281A probably benign Het
Mdga2 G A 12: 66,568,917 (GRCm38) R570* probably null Het
Mlxipl A G 5: 135,107,005 (GRCm38) D28G probably damaging Het
Morc2b T C 17: 33,136,760 (GRCm38) I679M probably benign Het
Myh4 T C 11: 67,246,366 (GRCm38) probably benign Het
Nfib A C 4: 82,498,615 (GRCm38) L61R probably damaging Het
Noc2l C A 4: 156,241,450 (GRCm38) Y227* probably null Het
Nrde2 A G 12: 100,142,232 (GRCm38) S367P probably damaging Het
Nup93 C A 8: 94,243,739 (GRCm38) P89T probably damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Olfr1240 C T 2: 89,439,583 (GRCm38) R232H probably benign Het
Olfr1283 A G 2: 111,369,095 (GRCm38) I154M probably benign Het
Olfr6 A T 7: 106,956,287 (GRCm38) Y216* probably null Het
Olfr714 A T 7: 107,074,619 (GRCm38) K264* probably null Het
Olfr749 T A 14: 50,736,576 (GRCm38) E195D possibly damaging Het
Olfr824 A G 10: 130,126,205 (GRCm38) I284T possibly damaging Het
Oxct1 G T 15: 4,092,525 (GRCm38) A319S probably null Het
P2ry10 A G X: 107,103,253 (GRCm38) S265G probably benign Het
Peak1 A T 9: 56,258,759 (GRCm38) N628K probably damaging Het
Pkdrej T A 15: 85,821,231 (GRCm38) Q168L probably benign Het
Plec A G 15: 76,188,926 (GRCm38) M604T probably benign Het
Pmfbp1 A T 8: 109,532,103 (GRCm38) N680I possibly damaging Het
Pnmal2 T C 7: 16,945,789 (GRCm38) W233R probably damaging Het
Pxn A G 5: 115,545,667 (GRCm38) N186S probably benign Het
Rsad1 A C 11: 94,549,125 (GRCm38) probably benign Het
Runx2 A G 17: 44,735,342 (GRCm38) I112T probably benign Het
S1pr2 A T 9: 20,967,494 (GRCm38) L346Q probably damaging Het
Skint6 A G 4: 113,238,132 (GRCm38) I110T probably damaging Het
Slc36a4 T A 9: 15,726,980 (GRCm38) F234Y probably damaging Het
Slitrk2 T A X: 66,654,629 (GRCm38) V242D probably damaging Het
Sp100 A G 1: 85,681,142 (GRCm38) probably null Het
Spryd3 A C 15: 102,118,181 (GRCm38) L352V probably benign Het
Ssc4d A C 5: 135,970,317 (GRCm38) W11G possibly damaging Het
Stx17 T A 4: 48,158,870 (GRCm38) D83E probably damaging Het
Tlk2 A T 11: 105,240,440 (GRCm38) Q204L probably benign Het
Tnfrsf21 A T 17: 43,037,938 (GRCm38) H147L possibly damaging Het
Tnrc18 A T 5: 142,766,087 (GRCm38) D1154E unknown Het
Trap1 A G 16: 4,068,336 (GRCm38) S86P probably benign Het
Trim32 T A 4: 65,614,776 (GRCm38) C523* probably null Het
Ttc38 G T 15: 85,838,788 (GRCm38) D146Y probably damaging Het
Ttc9 T A 12: 81,631,796 (GRCm38) L131Q probably damaging Het
Ttn C T 2: 76,813,339 (GRCm38) G11436R probably damaging Het
Ttn T C 2: 76,726,848 (GRCm38) probably benign Het
Ubash3b G A 9: 41,043,573 (GRCm38) P92S possibly damaging Het
Ube4a T C 9: 44,948,099 (GRCm38) N367S probably damaging Het
Ubr4 T A 4: 139,479,540 (GRCm38) H4899Q possibly damaging Het
Ufl1 C T 4: 25,269,036 (GRCm38) G265D possibly damaging Het
Vmn2r27 T A 6: 124,224,483 (GRCm38) I172F probably damaging Het
Vmn2r6 A T 3: 64,556,098 (GRCm38) H438Q possibly damaging Het
Vmn2r61 A G 7: 42,300,001 (GRCm38) D615G probably benign Het
Wdr24 T A 17: 25,826,282 (GRCm38) D330E probably damaging Het
Zbbx A T 3: 75,078,412 (GRCm38) N444K probably benign Het
Zc3h7b A T 15: 81,792,328 (GRCm38) Q757L probably damaging 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
R2060:Cdh7 UTSW 1 110,048,877 (GRCm38) missense probably damaging 1.00
R2068:Cdh7 UTSW 1 110,137,936 (GRCm38) nonsense probably null
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'- AGAAGACACAGAAGCCTTTGAC -3'
(R):5'- TTCCAAAGTAAGGGTCCAAGG -3'

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