Incidental Mutation 'R3085:Cdh8'
ID 265585
Institutional Source Beutler Lab
Gene Symbol Cdh8
Ensembl Gene ENSMUSG00000036510
Gene Name cadherin 8
Synonyms cad8
MMRRC Submission 040574-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3085 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 99751103-100143103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99923018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 293 (T293A)
Ref Sequence ENSEMBL: ENSMUSP00000123619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093249] [ENSMUST00000128860] [ENSMUST00000142129] [ENSMUST00000145601] [ENSMUST00000155527]
AlphaFold P97291
Predicted Effect probably benign
Transcript: ENSMUST00000093249
AA Change: T293A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000090935
Gene: ENSMUSG00000036510
AA Change: T293A

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 noncoding transcript
Transcript: ENSMUST00000126895
Predicted Effect probably benign
Transcript: ENSMUST00000128860
AA Change: T293A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117326
Gene: ENSMUSG00000036510
AA Change: T293A

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 benign
Transcript: ENSMUST00000142129
AA Change: T293A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114507
Gene: ENSMUSG00000036510
AA Change: T293A

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 benign
Transcript: ENSMUST00000145601
AA Change: T293A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122493
Gene: ENSMUSG00000036510
AA Change: T293A

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 benign
Transcript: ENSMUST00000155527
AA Change: T293A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000123619
Gene: ENSMUSG00000036510
AA Change: T293A

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
Meta Mutation Damage Score 0.0924 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (63/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T A 8: 87,270,536 (GRCm39) probably benign Het
Adrm1 T C 2: 179,816,094 (GRCm39) probably null Het
Aldh18a1 T C 19: 40,562,813 (GRCm39) I76V probably benign Het
Atp1b2 T C 11: 69,493,705 (GRCm39) K125E possibly damaging Het
Cabyr T C 18: 12,884,023 (GRCm39) V170A probably damaging Het
Cenpc1 A T 5: 86,185,476 (GRCm39) V345D probably benign Het
Col4a3 A G 1: 82,628,979 (GRCm39) E131G unknown Het
Col4a4 C T 1: 82,507,285 (GRCm39) probably null Het
Creb3l1 G T 2: 91,825,789 (GRCm39) probably null Het
Dhx9 T C 1: 153,341,445 (GRCm39) D601G probably benign Het
Dipk1a G T 5: 108,062,290 (GRCm39) D28E probably damaging Het
Dnaaf4 T A 9: 72,879,688 (GRCm39) N289K probably benign Het
Eml6 T C 11: 29,759,332 (GRCm39) E807G probably damaging Het
Exog C A 9: 119,291,518 (GRCm39) T241K probably benign Het
Eya1 T C 1: 14,344,314 (GRCm39) D109G probably benign Het
Fat2 C T 11: 55,142,997 (GRCm39) R4284H possibly damaging Het
Fbxw13 C A 9: 109,013,299 (GRCm39) G130* probably null Het
Fcrl5 A G 3: 87,353,771 (GRCm39) Y372C probably damaging Het
Gli3 T C 13: 15,835,526 (GRCm39) S435P probably damaging Het
Gsg1l C T 7: 125,490,852 (GRCm39) R284H probably benign Het
Havcr1 C T 11: 46,647,052 (GRCm39) T162I probably damaging Het
Igdcc4 T C 9: 65,039,340 (GRCm39) F947S probably damaging Het
Irx1 G T 13: 72,111,411 (GRCm39) A66E probably damaging Het
Klf11 T C 12: 24,705,490 (GRCm39) S315P probably benign Het
Kynu A G 2: 43,492,312 (GRCm39) M190V probably benign Het
Lrp2 T C 2: 69,297,479 (GRCm39) T3161A probably benign Het
Macrod1 G T 19: 7,173,859 (GRCm39) A208S probably damaging Het
Mamdc2 G A 19: 23,288,296 (GRCm39) H581Y possibly damaging Het
Megf8 T A 7: 25,048,444 (GRCm39) Y1706N probably damaging Het
Mthfd1l G A 10: 4,040,007 (GRCm39) R806H probably benign Het
Nags T A 11: 102,036,810 (GRCm39) V133D probably damaging Het
Nrg3 C A 14: 38,092,906 (GRCm39) D560Y probably damaging Het
Or4f60 C A 2: 111,902,320 (GRCm39) G203* probably null Het
Or4k36 A G 2: 111,146,461 (GRCm39) I212M probably benign Het
Or4p23 A G 2: 88,576,488 (GRCm39) F248S probably damaging Het
Or5af2 T C 11: 58,708,553 (GRCm39) S240P probably damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pde6d T C 1: 86,475,248 (GRCm39) probably null Het
Plekhf1 T C 7: 37,921,001 (GRCm39) E189G probably benign Het
Ppm1b A T 17: 85,321,288 (GRCm39) I477L probably benign Het
Rad51ap2 C A 12: 11,506,758 (GRCm39) Q227K possibly damaging Het
Rnf125 T C 18: 21,110,787 (GRCm39) V15A probably benign Het
Rnps1 C T 17: 24,631,393 (GRCm39) probably benign Het
Robo1 A G 16: 72,798,898 (GRCm39) I953V possibly damaging Het
Sash1 A T 10: 8,618,186 (GRCm39) probably null Het
Smarcc2 T C 10: 128,324,028 (GRCm39) probably benign Het
Stx12 T A 4: 132,584,672 (GRCm39) E224V probably damaging Het
Sun1 T C 5: 139,221,356 (GRCm39) V357A probably benign Het
Synpo2l T C 14: 20,712,248 (GRCm39) D350G probably damaging Het
Tex15 A T 8: 34,064,913 (GRCm39) N1448Y probably benign Het
Tfpi A G 2: 84,273,227 (GRCm39) probably benign Het
Tktl2 T A 8: 66,965,858 (GRCm39) M472K possibly damaging Het
Tmem40 T C 6: 115,718,576 (GRCm39) D43G possibly damaging Het
Tshz2 T A 2: 169,725,871 (GRCm39) C156S probably benign Het
Vmn2r101 T A 17: 19,809,077 (GRCm39) probably null Het
Vmn2r85 T C 10: 130,261,081 (GRCm39) M419V probably benign Het
Wdr73 G A 7: 80,550,990 (GRCm39) probably benign Het
Zc3hc1 C T 6: 30,374,763 (GRCm39) probably null Het
Zfhx3 T C 8: 109,682,664 (GRCm39) Y3368H unknown Het
Zfp263 G A 16: 3,567,580 (GRCm39) E632K probably damaging Het
Zfp266 A G 9: 20,412,240 (GRCm39) L111P probably damaging Het
Zfp626 T A 7: 27,517,587 (GRCm39) S189R probably benign Het
Zfp772 T C 7: 7,206,699 (GRCm39) R331G possibly damaging Het
Zkscan5 G A 5: 145,157,889 (GRCm39) C797Y probably damaging 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
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
R8314:Cdh8 UTSW 8 99,898,011 (GRCm39) missense probably damaging 1.00
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'- AGAGGTTTCAAAAGCCATGTTTCTC -3'
(R):5'- AAGATGACTCACCACTTCTGG -3'

Sequencing Primer
(F):5'- TATAACACCATCCTGGGC -3'
(R):5'- GACTCACCACTTCTGGGAAATATTTG -3'
Posted On 2015-02-05