Incidental Mutation 'R4871:Cdh8'
ID 376593
Institutional Source Beutler Lab
Gene Symbol Cdh8
Ensembl Gene ENSMUSG00000036510
Gene Name cadherin 8
Synonyms cad8
MMRRC Submission 042481-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4871 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 99751103-100143103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 99757536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 687 (N687K)
Ref Sequence ENSEMBL: ENSMUSP00000123619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093249] [ENSMUST00000128860] [ENSMUST00000142129] [ENSMUST00000145601] [ENSMUST00000155527]
AlphaFold P97291
Predicted Effect probably damaging
Transcript: ENSMUST00000093249
AA Change: N687K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090935
Gene: ENSMUSG00000036510
AA Change: N687K

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 possibly damaging
Transcript: ENSMUST00000128860
AA Change: N687K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117326
Gene: ENSMUSG00000036510
AA Change: N687K

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: N687K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114507
Gene: ENSMUSG00000036510
AA Change: N687K

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
SMART Domains Protein: ENSMUSP00000122493
Gene: ENSMUSG00000036510

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: N687K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123619
Gene: ENSMUSG00000036510
AA Change: N687K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161244
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 93% (99/107)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1r1 A G 6: 55,457,078 (GRCm39) T270A probably null Het
Adgrv1 A T 13: 81,681,241 (GRCm39) probably benign Het
Aldh1b1 A T 4: 45,803,383 (GRCm39) D307V probably benign Het
Aldh3a2 A T 11: 61,153,065 (GRCm39) C220* probably null Het
Ank2 T C 3: 126,753,444 (GRCm39) Y279C probably damaging Het
Anks1 T C 17: 28,210,351 (GRCm39) Y444H probably benign Het
Asph G T 4: 9,531,968 (GRCm39) T383K probably benign Het
Asphd1 G T 7: 126,547,747 (GRCm39) S185R possibly damaging Het
Bcl2a1d T A 9: 88,613,748 (GRCm39) I9F probably damaging Het
Bcl2l11 T C 2: 127,970,961 (GRCm39) probably benign Het
C2cd3 T G 7: 100,062,581 (GRCm39) S656A possibly damaging Het
Cd5l T C 3: 87,274,929 (GRCm39) V156A probably damaging Het
Cdk19 A G 10: 40,352,232 (GRCm39) D338G probably benign Het
Cenpf A G 1: 189,390,728 (GRCm39) C1035R probably damaging Het
Cep290 A G 10: 100,384,776 (GRCm39) R1845G probably benign Het
Cep295nl G T 11: 118,224,650 (GRCm39) Q65K probably damaging Het
Ciz1 T C 2: 32,262,300 (GRCm39) probably benign Het
Clasrp T C 7: 19,324,173 (GRCm39) D234G possibly damaging Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Ddr2 A G 1: 169,832,340 (GRCm39) V150A probably benign Het
Dennd10 A G 19: 60,819,252 (GRCm39) E120G probably damaging Het
Dnah7b T C 1: 46,120,604 (GRCm39) S74P probably benign Het
Dnttip2 C A 3: 122,078,750 (GRCm39) A743E probably damaging Het
Dysf A T 6: 84,044,005 (GRCm39) Q281L possibly damaging Het
Ece2 A G 16: 20,462,905 (GRCm39) E610G probably damaging Het
Edem3 T G 1: 151,679,982 (GRCm39) probably null Het
Ext1 G T 15: 52,955,773 (GRCm39) N441K probably benign Het
Fam118a A G 15: 84,942,969 (GRCm39) R333G probably damaging Het
Fat4 C T 3: 38,945,754 (GRCm39) T1549I probably damaging Het
Fbxo4 A G 15: 4,005,394 (GRCm39) V162A probably damaging Het
Fgd2 A G 17: 29,592,223 (GRCm39) H385R possibly damaging Het
Garnl3 A T 2: 32,977,100 (GRCm39) M1K probably null Het
Gm37267 T G 1: 180,338,083 (GRCm39) noncoding transcript Het
Gpbar1 C T 1: 74,318,702 (GRCm39) A315V probably damaging Het
Grm2 T C 9: 106,524,844 (GRCm39) I624V probably benign Het
Hmcn1 T C 1: 150,468,836 (GRCm39) I5042V probably benign Het
Hnf4g T C 3: 3,716,448 (GRCm39) Y291H possibly damaging Het
Ighm A G 12: 113,385,241 (GRCm39) S240P unknown Het
Igkv4-91 A G 6: 68,745,604 (GRCm39) I98T probably damaging Het
Krt72 T C 15: 101,694,469 (GRCm39) N142S probably damaging Het
Kynu T A 2: 43,569,830 (GRCm39) Y371N possibly damaging Het
Ly9 G T 1: 171,434,898 (GRCm39) probably benign Het
Man1a2 C A 3: 100,524,372 (GRCm39) V359F probably damaging Het
Mast1 T C 8: 85,647,287 (GRCm39) I623M probably damaging Het
Mb A G 15: 76,906,687 (GRCm39) probably null Het
Mcm4 A C 16: 15,452,374 (GRCm39) L113* probably null Het
Mcub C T 3: 129,710,685 (GRCm39) W249* probably null Het
Mme T A 3: 63,247,453 (GRCm39) V246E probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrpl38 A G 11: 116,025,098 (GRCm39) Y232H probably damaging Het
Myh7b T A 2: 155,455,420 (GRCm39) M89K probably benign Het
Notch4 A G 17: 34,796,536 (GRCm39) S892G possibly damaging Het
Nt5dc3 A G 10: 86,652,941 (GRCm39) Y245C probably damaging Het
Ntn1 CCTTCTTCT CCTTCT 11: 68,103,852 (GRCm39) probably benign Het
Or12d12 T A 17: 37,611,095 (GRCm39) T73S probably benign Het
Or12d14-ps1 A T 17: 37,673,337 (GRCm39) I107L probably benign Het
Or14a259 A T 7: 86,012,692 (GRCm39) N284K probably damaging Het
Or5m12 T A 2: 85,734,715 (GRCm39) I228F probably benign Het
Or8b36 G T 9: 37,937,822 (GRCm39) C240F probably damaging Het
Or8k28 A T 2: 86,286,153 (GRCm39) I154N possibly damaging Het
Palld A T 8: 62,002,815 (GRCm39) probably benign Het
Pcdhga10 T C 18: 37,881,253 (GRCm39) V338A probably damaging Het
Pcdhga11 A G 18: 37,890,459 (GRCm39) Y489C probably damaging Het
Pgm2 T C 5: 64,261,237 (GRCm39) Y244H probably benign Het
Phactr4 A T 4: 132,105,759 (GRCm39) S102R probably damaging Het
Plekha5 A G 6: 140,471,636 (GRCm39) Y20C probably damaging Het
Rdh19 A G 10: 127,696,013 (GRCm39) D255G probably benign Het
Rgs3 T C 4: 62,549,532 (GRCm39) V438A probably benign Het
Rnf186 A G 4: 138,695,254 (GRCm39) T265A probably benign Het
Ror1 T C 4: 100,283,195 (GRCm39) F420S probably benign Het
Rtkn2 A G 10: 67,841,463 (GRCm39) K204E probably damaging Het
Rundc1 A G 11: 101,324,874 (GRCm39) T527A probably benign Het
Samd4 T C 14: 47,303,920 (GRCm39) S301P probably damaging Het
Scaf1 G A 7: 44,655,303 (GRCm39) probably benign Het
Srgap2 A G 1: 131,217,210 (GRCm39) V1034A probably benign Het
Stab2 T C 10: 86,778,099 (GRCm39) D743G probably damaging Het
Stim1 A T 7: 102,003,779 (GRCm39) I71F probably damaging Het
Stk17b T C 1: 53,796,693 (GRCm39) D358G probably benign Het
Sun2 A G 15: 79,611,765 (GRCm39) Y551H probably damaging Het
Tas2r110 A T 6: 132,845,091 (GRCm39) T41S probably benign Het
Tead3 T A 17: 28,552,589 (GRCm39) E268V probably damaging Het
Tead3 A G 17: 28,553,962 (GRCm39) S131P probably benign Het
Tepsin A T 11: 119,982,351 (GRCm39) M505K possibly damaging Het
Trbv28 A G 6: 41,248,668 (GRCm39) Y66C possibly damaging Het
Ttc6 A G 12: 57,749,142 (GRCm39) Q1358R probably damaging Het
Ttll2 C T 17: 7,618,998 (GRCm39) V310I probably benign Het
Uaca T C 9: 60,753,283 (GRCm39) V76A probably damaging Het
Vwf A T 6: 125,663,425 (GRCm39) T2789S probably benign Het
Yipf4 T C 17: 74,801,089 (GRCm39) F136L probably benign Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp804b A T 5: 6,926,479 (GRCm39) D51E probably damaging Het
Zfyve9 C T 4: 108,538,183 (GRCm39) G969R 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
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
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'- TCGGCCTTCATAGCCATAAATC -3'
(R):5'- TCTGCTTTGATCATGGCATGC -3'

Sequencing Primer
(F):5'- GGCCTTCATAGCCATAAATCTGTATG -3'
(R):5'- ACTGATGGTGATCTGCTCTTTC -3'
Posted On 2016-03-17