Incidental Mutation 'R7112:Cdh8'
ID 551572
Institutional Source Beutler Lab
Gene Symbol Cdh8
Ensembl Gene ENSMUSG00000036510
Gene Name cadherin 8
Synonyms cad8
MMRRC Submission 045204-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7112 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 99751103-100143103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99922984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 304 (D304G)
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: D304G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090935
Gene: ENSMUSG00000036510
AA Change: D304G

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: D304G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117326
Gene: ENSMUSG00000036510
AA Change: D304G

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: D304G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114507
Gene: ENSMUSG00000036510
AA Change: D304G

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: D304G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122493
Gene: ENSMUSG00000036510
AA Change: D304G

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: D304G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123619
Gene: ENSMUSG00000036510
AA Change: D304G

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: 99.7%
  • 20x: 98.9%
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. 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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 G T 12: 112,747,747 (GRCm39) A1036E Het
Baz2b A T 2: 59,792,528 (GRCm39) H533Q possibly damaging Het
Bcl2l11 T A 2: 128,000,235 (GRCm39) W193R probably damaging Het
Bcl2l12 C T 7: 44,646,338 (GRCm39) G24D probably damaging Het
Cacna1b A G 2: 24,580,773 (GRCm39) V691A probably damaging Het
Ces3a A T 8: 105,784,594 (GRCm39) Q525H probably damaging Het
Csmd1 C A 8: 16,151,142 (GRCm39) C1391F probably damaging Het
Cul7 G T 17: 46,962,624 (GRCm39) G85V probably damaging Het
Dnah8 G A 17: 31,090,366 (GRCm39) V4623I possibly damaging Het
Dnhd1 T A 7: 105,363,192 (GRCm39) L3918Q probably damaging Het
Exoc4 A T 6: 33,898,423 (GRCm39) N881Y probably damaging Het
Flt1 G C 5: 147,540,379 (GRCm39) A770G probably damaging Het
Fndc5 A G 4: 129,035,915 (GRCm39) N184S probably benign Het
Folh1 A G 7: 86,424,845 (GRCm39) probably null Het
Frem3 A T 8: 81,338,660 (GRCm39) T318S probably damaging Het
Gba2 A G 4: 43,568,453 (GRCm39) V671A probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Jph2 G A 2: 163,217,704 (GRCm39) T324M probably damaging Het
Kank4 A G 4: 98,649,758 (GRCm39) V937A probably damaging Het
Kdm3a T A 6: 71,609,154 (GRCm39) E24D probably benign Het
Kidins220 T A 12: 25,054,018 (GRCm39) L464Q probably damaging Het
Loxhd1 T A 18: 77,476,210 (GRCm39) V1159E probably damaging Het
Malrd1 A G 2: 15,929,987 (GRCm39) N1498D unknown Het
Mplkipl1 T G 19: 61,163,997 (GRCm39) D146A probably damaging Het
Mrgprb5 C T 7: 47,818,655 (GRCm39) V27I probably benign Het
Mtfr2 A G 10: 20,233,312 (GRCm39) N294D probably damaging Het
Muc6 A T 7: 141,235,542 (GRCm39) L498H probably damaging Het
N4bp2 A G 5: 65,948,050 (GRCm39) T227A possibly damaging Het
Nin C T 12: 70,149,573 (GRCm39) R12Q Het
Obscn G C 11: 58,920,151 (GRCm39) A27G Het
Or11h7 T A 14: 50,891,583 (GRCm39) D296E probably benign Het
Or4k5 T G 14: 50,385,392 (GRCm39) E313A probably benign Het
Or52r1b G A 7: 102,690,862 (GRCm39) D54N probably damaging Het
Or8b48 T A 9: 38,493,330 (GRCm39) Y252* probably null Het
Or8s5 T A 15: 98,238,421 (GRCm39) M150L possibly damaging Het
Polr2a A G 11: 69,626,135 (GRCm39) S1672P unknown Het
Qprt A G 7: 126,707,361 (GRCm39) V245A probably damaging Het
Rab11fip5 T A 6: 85,325,176 (GRCm39) E377V probably damaging Het
Rere A G 4: 150,491,061 (GRCm39) T71A probably benign Het
Ret A T 6: 118,174,063 (GRCm39) L11Q possibly damaging Het
Rp1 C T 1: 4,419,241 (GRCm39) V624I probably benign Het
Scaf8 T A 17: 3,213,304 (GRCm39) L131H unknown Het
Scgb2a2 A G 19: 9,829,021 (GRCm39) R58G probably benign Het
Scn11a A G 9: 119,583,875 (GRCm39) I1580T probably damaging Het
Slco4c1 T G 1: 96,768,866 (GRCm39) K332T probably damaging Het
Sntg1 T G 1: 8,518,289 (GRCm39) Y368S possibly damaging Het
Stim1 A G 7: 102,057,615 (GRCm39) T143A probably benign Het
Tbr1 A G 2: 61,642,160 (GRCm39) D475G probably benign Het
Tcp1 A G 17: 13,136,760 (GRCm39) D47G probably damaging Het
Tpgs2 T C 18: 25,282,194 (GRCm39) D119G probably damaging Het
Trim40 C A 17: 37,193,534 (GRCm39) R225M probably null Het
Tro GCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC GCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC X: 149,428,852 (GRCm39) probably benign Het
Trpm1 A T 7: 63,885,593 (GRCm39) N870Y probably damaging Het
Tsr3 A G 17: 25,459,445 (GRCm39) D47G probably benign Het
Vil1 G A 1: 74,455,161 (GRCm39) G38R probably damaging Het
Vmn2r91 A T 17: 18,325,880 (GRCm39) Q166L possibly damaging Het
Wdr33 C T 18: 32,026,056 (GRCm39) T919I unknown Het
Wdr36 T C 18: 32,972,504 (GRCm39) V64A probably benign Het
Xpnpep1 T C 19: 52,998,538 (GRCm39) I237V probably benign Het
Zfp780b A T 7: 27,662,566 (GRCm39) I663N probably damaging Het
Zfyve9 G A 4: 108,507,519 (GRCm39) A513V 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
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'- CACAGAGGTTTCAAAAGCCATG -3'
(R):5'- CTCACCACTTCTGGGAAATATTTG -3'

Sequencing Primer
(F):5'- CAGAGGTTTCAAAAGCCATGTTTCTC -3'
(R):5'- TGGTCATATCTCTACAGACATCCAG -3'
Posted On 2019-05-15