Incidental Mutation 'R8314:Cdh8'
ID 641569
Institutional Source Beutler Lab
Gene Symbol Cdh8
Ensembl Gene ENSMUSG00000036510
Gene Name cadherin 8
Synonyms cad8
MMRRC Submission 067719-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8314 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 99751103-100143103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99898011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 434 (D434G)
Ref Sequence ENSEMBL: ENSMUSP00000117326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093249] [ENSMUST00000128860] [ENSMUST00000142129] [ENSMUST00000145601] [ENSMUST00000155527]
AlphaFold P97291
PDB Structure Crystal Structure of Cadherin8 EC1 domain [X-RAY DIFFRACTION]
Crystal structure of mouse cadherin-8 EC1-3 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000093249
AA Change: D434G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000090935
Gene: ENSMUSG00000036510
AA Change: D434G

DomainStartEndE-ValueType
low complexity region 12 24 N/A INTRINSIC
CA 84 165 9.52e-17 SMART
CA 189 274 7.14e-30 SMART
CA 298 390 8.16e-16 SMART
CA 413 494 6.14e-20 SMART
CA 517 604 1.16e-11 SMART
transmembrane domain 622 644 N/A INTRINSIC
Pfam:Cadherin_C 645 712 1.4e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000128860
AA Change: D434G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117326
Gene: ENSMUSG00000036510
AA Change: D434G

DomainStartEndE-ValueType
low complexity region 12 24 N/A INTRINSIC
CA 84 165 9.52e-17 SMART
CA 189 274 7.14e-30 SMART
CA 298 390 8.16e-16 SMART
CA 413 494 6.14e-20 SMART
CA 517 604 1.16e-11 SMART
transmembrane domain 622 644 N/A INTRINSIC
Pfam:Cadherin_C 647 792 7e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142129
AA Change: D434G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114507
Gene: ENSMUSG00000036510
AA Change: D434G

DomainStartEndE-ValueType
low complexity region 12 24 N/A INTRINSIC
CA 84 165 9.52e-17 SMART
CA 189 274 7.14e-30 SMART
CA 298 390 8.16e-16 SMART
CA 413 494 6.14e-20 SMART
CA 517 604 1.16e-11 SMART
transmembrane domain 622 644 N/A INTRINSIC
Pfam:Cadherin_C 645 702 5.3e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000145601
AA Change: D434G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122493
Gene: ENSMUSG00000036510
AA Change: D434G

DomainStartEndE-ValueType
low complexity region 12 24 N/A INTRINSIC
CA 84 165 9.52e-17 SMART
CA 189 274 7.14e-30 SMART
CA 298 390 8.16e-16 SMART
CA 413 502 1.27e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000155527
AA Change: D434G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123619
Gene: ENSMUSG00000036510
AA Change: D434G

DomainStartEndE-ValueType
low complexity region 12 24 N/A INTRINSIC
CA 84 165 9.52e-17 SMART
CA 189 274 7.14e-30 SMART
CA 298 390 8.16e-16 SMART
CA 413 494 6.14e-20 SMART
CA 517 604 1.16e-11 SMART
transmembrane domain 622 644 N/A INTRINSIC
Pfam:Cadherin_C 645 745 1.8e-19 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (67/67)
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. Mice lacking the encoded protein exhibit reduced behavioral responses to cold, but not thermal stimuli. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 8. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele are viable, fertile and overtly normal but display abnormal CNS synaptic transmission, raise their tails in response to stress, and show reduced sensitivity to cutaneous cold stimuli. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T A 9: 122,777,993 (GRCm39) T84S probably benign Het
4930533K18Rik A G 10: 70,711,106 (GRCm39) T76A noncoding transcript Het
Adgrl1 C T 8: 84,665,018 (GRCm39) T1235I probably damaging Het
Ak4 C T 4: 101,320,782 (GRCm39) T197M possibly damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Alox12e T C 11: 70,206,998 (GRCm39) M603V possibly damaging Het
Ap3d1 A T 10: 80,559,373 (GRCm39) I267N possibly damaging Het
Arhgef2 T A 3: 88,528,600 (GRCm39) I12N probably benign Het
Asnsd1 A T 1: 53,385,814 (GRCm39) M520K probably damaging Het
B3galt5 T C 16: 96,116,649 (GRCm39) L94P probably damaging Het
Birc2 T C 9: 7,872,942 (GRCm39) probably benign Het
Cd177 T C 7: 24,450,013 (GRCm39) S541G probably benign Het
Cdkn3 A T 14: 47,007,330 (GRCm39) silent Het
Ciita A T 16: 10,328,852 (GRCm39) R379W probably damaging Het
Cntrl T A 2: 35,065,155 (GRCm39) M2153K probably benign Het
Csmd1 A T 8: 16,208,258 (GRCm39) D1232E probably benign Het
Cyp4a30b A C 4: 115,315,535 (GRCm39) H252P probably benign Het
Dad1 G A 14: 54,491,269 (GRCm39) R11W probably damaging Het
Ddit3 A G 10: 127,131,590 (GRCm39) probably null Het
Dusp22 G A 13: 30,892,914 (GRCm39) probably benign Het
Dzank1 A G 2: 144,344,878 (GRCm39) L293P probably damaging Het
Edf1 A G 2: 25,447,977 (GRCm39) D5G probably damaging Het
Entrep3 T C 3: 89,095,453 (GRCm39) probably null Het
Ep400 T A 5: 110,903,619 (GRCm39) M327L unknown Het
Fam135a A T 1: 24,061,002 (GRCm39) H1341Q possibly damaging Het
Fbxl3 C T 14: 103,326,876 (GRCm39) V169I probably benign Het
Gm4787 A G 12: 81,425,909 (GRCm39) L83P probably damaging Het
Habp4 A G 13: 64,332,565 (GRCm39) E392G probably damaging Het
Hspg2 C A 4: 137,266,986 (GRCm39) P1997Q probably benign Het
Ints9 T C 14: 65,266,479 (GRCm39) S444P probably damaging Het
Kif18b G A 11: 102,803,900 (GRCm39) S420L probably benign Het
Klhl17 T A 4: 156,318,470 (GRCm39) M51L probably benign Het
Kmt2b C T 7: 30,278,347 (GRCm39) E1555K probably damaging Het
Malrd1 T A 2: 15,757,643 (GRCm39) D972E unknown Het
Mapk8ip3 A T 17: 25,120,748 (GRCm39) S805R probably benign Het
Mmp13 G A 9: 7,272,931 (GRCm39) C97Y probably damaging Het
Moxd1 T A 10: 24,128,438 (GRCm39) N163K possibly damaging Het
Nbea T C 3: 55,916,672 (GRCm39) I863V probably damaging Het
Nectin4 A G 1: 171,212,295 (GRCm39) T298A probably benign Het
Net1 T C 13: 3,962,672 (GRCm39) probably benign Het
Ntn1 T C 11: 68,276,450 (GRCm39) D166G probably damaging Het
Opa3 C A 7: 18,978,940 (GRCm39) A135E possibly damaging Het
Or1e31 T G 11: 73,690,568 (GRCm39) N5T noncoding transcript Het
Or4c3d T C 2: 89,882,441 (GRCm39) T76A probably benign Het
Or51v14 T C 7: 103,261,254 (GRCm39) Q102R probably damaging Het
Or5w14 A G 2: 87,541,546 (GRCm39) F235L probably benign Het
Or8g30 A G 9: 39,230,601 (GRCm39) F103S probably damaging Het
Osbpl5 T C 7: 143,248,833 (GRCm39) I608V probably benign Het
Phc1 A C 6: 122,297,937 (GRCm39) S782R unknown Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pip5k1b T A 19: 24,332,563 (GRCm39) T374S probably benign Het
Prkaa1 A G 15: 5,208,354 (GRCm39) S541G probably damaging Het
Ptpn20 A G 14: 33,344,504 (GRCm39) N143D possibly damaging Het
Rabep1 A G 11: 70,784,486 (GRCm39) D207G possibly damaging Het
Rbbp8 G A 18: 11,853,682 (GRCm39) M296I probably benign Het
Recql4 C A 15: 76,594,380 (GRCm39) R46L probably damaging Het
Scgb2b18 T C 7: 32,872,582 (GRCm39) I74M probably benign Het
Shc4 A G 2: 125,497,536 (GRCm39) I391T possibly damaging Het
Slc38a4 A G 15: 96,908,190 (GRCm39) F184L probably benign Het
Slc7a6 A G 8: 106,895,590 (GRCm39) probably benign Het
Smim13 G T 13: 41,426,110 (GRCm39) G49* probably null Het
Tbc1d19 A G 5: 54,054,389 (GRCm39) D459G probably damaging Het
Tnpo1 T C 13: 99,021,133 (GRCm39) N82S possibly damaging Het
Tpp2 G A 1: 43,973,387 (GRCm39) V47I probably benign Het
Umodl1 G T 17: 31,203,806 (GRCm39) A540S probably damaging Het
Vmn2r83 G A 10: 79,317,313 (GRCm39) V519I possibly damaging Het
Zfp641 T C 15: 98,188,464 (GRCm39) I139V probably damaging Het
Zfyve21 A T 12: 111,789,715 (GRCm39) I60F probably benign Het
Other mutations in Cdh8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Cdh8 APN 8 100,006,322 (GRCm39) missense probably damaging 0.99
IGL01377:Cdh8 APN 8 99,760,021 (GRCm39) missense probably damaging 0.99
IGL01845:Cdh8 APN 8 99,825,586 (GRCm39) splice site probably benign
IGL02166:Cdh8 APN 8 99,917,083 (GRCm39) missense probably damaging 1.00
IGL02392:Cdh8 APN 8 99,757,387 (GRCm39) missense probably damaging 0.96
R0007:Cdh8 UTSW 8 99,957,088 (GRCm39) nonsense probably null
R0179:Cdh8 UTSW 8 99,838,344 (GRCm39) missense possibly damaging 0.84
R0196:Cdh8 UTSW 8 99,917,066 (GRCm39) missense probably damaging 0.99
R0220:Cdh8 UTSW 8 99,838,311 (GRCm39) missense probably benign 0.21
R0271:Cdh8 UTSW 8 99,838,347 (GRCm39) missense possibly damaging 0.83
R0592:Cdh8 UTSW 8 100,006,110 (GRCm39) missense probably damaging 1.00
R0612:Cdh8 UTSW 8 100,127,546 (GRCm39) missense probably benign 0.02
R1404:Cdh8 UTSW 8 100,006,250 (GRCm39) missense probably damaging 1.00
R1404:Cdh8 UTSW 8 100,006,250 (GRCm39) missense probably damaging 1.00
R1588:Cdh8 UTSW 8 99,917,039 (GRCm39) missense probably damaging 1.00
R1635:Cdh8 UTSW 8 99,757,656 (GRCm39) missense probably damaging 1.00
R1717:Cdh8 UTSW 8 99,757,337 (GRCm39) missense probably damaging 1.00
R1781:Cdh8 UTSW 8 100,006,290 (GRCm39) missense probably damaging 0.98
R1781:Cdh8 UTSW 8 99,917,094 (GRCm39) splice site probably null
R1862:Cdh8 UTSW 8 99,917,026 (GRCm39) missense probably damaging 1.00
R1895:Cdh8 UTSW 8 100,006,189 (GRCm39) missense possibly damaging 0.84
R1912:Cdh8 UTSW 8 99,825,502 (GRCm39) missense probably damaging 1.00
R2005:Cdh8 UTSW 8 99,760,103 (GRCm39) splice site probably null
R2142:Cdh8 UTSW 8 99,838,325 (GRCm39) missense probably damaging 1.00
R2197:Cdh8 UTSW 8 99,922,897 (GRCm39) missense probably damaging 1.00
R2512:Cdh8 UTSW 8 100,127,495 (GRCm39) missense probably benign 0.05
R3085:Cdh8 UTSW 8 99,923,018 (GRCm39) missense probably benign 0.00
R3436:Cdh8 UTSW 8 100,127,350 (GRCm39) splice site probably benign
R3898:Cdh8 UTSW 8 99,898,005 (GRCm39) missense probably damaging 0.98
R4470:Cdh8 UTSW 8 100,143,321 (GRCm39) unclassified probably benign
R4615:Cdh8 UTSW 8 100,006,254 (GRCm39) missense probably damaging 1.00
R4652:Cdh8 UTSW 8 99,751,491 (GRCm39) missense probably benign
R4666:Cdh8 UTSW 8 99,751,534 (GRCm39) missense possibly damaging 0.71
R4798:Cdh8 UTSW 8 99,751,558 (GRCm39) nonsense probably null
R4871:Cdh8 UTSW 8 99,757,536 (GRCm39) missense probably damaging 1.00
R5170:Cdh8 UTSW 8 100,006,182 (GRCm39) missense probably damaging 1.00
R5406:Cdh8 UTSW 8 99,923,002 (GRCm39) missense probably damaging 1.00
R5564:Cdh8 UTSW 8 99,757,498 (GRCm39) missense possibly damaging 0.57
R5686:Cdh8 UTSW 8 99,759,854 (GRCm39) missense probably benign 0.00
R6311:Cdh8 UTSW 8 100,127,527 (GRCm39) missense probably damaging 0.99
R6786:Cdh8 UTSW 8 99,950,579 (GRCm39) missense probably benign 0.19
R6855:Cdh8 UTSW 8 99,916,849 (GRCm39) missense probably damaging 0.99
R6950:Cdh8 UTSW 8 99,757,395 (GRCm39) missense probably benign 0.18
R7112:Cdh8 UTSW 8 99,922,984 (GRCm39) missense probably damaging 1.00
R7181:Cdh8 UTSW 8 99,825,557 (GRCm39) missense probably benign
R7384:Cdh8 UTSW 8 99,957,138 (GRCm39) missense probably benign
R7400:Cdh8 UTSW 8 100,006,192 (GRCm39) missense probably damaging 1.00
R7537:Cdh8 UTSW 8 99,825,517 (GRCm39) nonsense probably null
R7763:Cdh8 UTSW 8 100,006,306 (GRCm39) nonsense probably null
R8130:Cdh8 UTSW 8 99,757,676 (GRCm39) missense probably damaging 0.98
R8215:Cdh8 UTSW 8 99,757,498 (GRCm39) missense possibly damaging 0.57
R8443:Cdh8 UTSW 8 99,757,672 (GRCm39) missense possibly damaging 0.56
R9673:Cdh8 UTSW 8 99,757,367 (GRCm39) missense possibly damaging 0.71
R9756:Cdh8 UTSW 8 99,759,976 (GRCm39) missense probably damaging 1.00
X0022:Cdh8 UTSW 8 100,006,107 (GRCm39) missense probably damaging 1.00
Z1088:Cdh8 UTSW 8 100,006,134 (GRCm39) missense probably damaging 1.00
Z1176:Cdh8 UTSW 8 99,916,837 (GRCm39) missense probably null 0.89
Z1176:Cdh8 UTSW 8 99,897,955 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GACCATTTATTCTGTGTTCAATGGG -3'
(R):5'- TCTGGCTAATTGCTCCTTGGAC -3'

Sequencing Primer
(F):5'- GGTACCAAATGAATGCATACACAC -3'
(R):5'- AAGTTTCCTGTGCCTCATTCAG -3'
Posted On 2020-07-28