Incidental Mutation 'R5406:Cdh8'
ID 426279
Institutional Source Beutler Lab
Gene Symbol Cdh8
Ensembl Gene ENSMUSG00000036510
Gene Name cadherin 8
Synonyms cad8
MMRRC Submission 042976-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5406 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 99751103-100143103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99923002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 298 (V298A)
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: V298A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090935
Gene: ENSMUSG00000036510
AA Change: V298A

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 damaging
Transcript: ENSMUST00000128860
AA Change: V298A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117326
Gene: ENSMUSG00000036510
AA Change: V298A

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: V298A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114507
Gene: ENSMUSG00000036510
AA Change: V298A

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: V298A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122493
Gene: ENSMUSG00000036510
AA Change: V298A

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: V298A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123619
Gene: ENSMUSG00000036510
AA Change: V298A

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A T 9: 4,309,387 (GRCm39) V17D probably damaging Het
Abcb1a C A 5: 8,752,946 (GRCm39) Q566K probably damaging Het
Adam26a A T 8: 44,022,141 (GRCm39) C450S probably damaging Het
Adar C T 3: 89,643,418 (GRCm39) P433L probably damaging Het
Aldh1a2 G T 9: 71,162,403 (GRCm39) A151S possibly damaging Het
Arsk T A 13: 76,242,066 (GRCm39) H69L probably benign Het
Atf6b T A 17: 34,872,771 (GRCm39) Y600* probably null Het
Blk C A 14: 63,618,180 (GRCm39) G242V probably damaging Het
Bmt2 A T 6: 13,677,831 (GRCm39) M1K probably null Het
Catsperg1 G A 7: 28,884,948 (GRCm39) T891M probably damaging Het
Ccdc32 A C 2: 118,852,560 (GRCm39) S131A possibly damaging Het
Cfap54 T A 10: 92,837,720 (GRCm39) Q1060L probably benign Het
Cfap58 G A 19: 48,017,541 (GRCm39) M800I possibly damaging Het
Cntn5 A T 9: 9,833,465 (GRCm39) V362D probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
G2e3 T C 12: 51,419,449 (GRCm39) S699P probably damaging Het
Gbp4 G T 5: 105,267,387 (GRCm39) Q511K possibly damaging Het
Gdap2 T A 3: 100,098,991 (GRCm39) I361N probably damaging Het
Ino80c T A 18: 24,245,819 (GRCm39) H92L probably benign Het
Lipo4 A G 19: 33,480,618 (GRCm39) V250A probably benign Het
Llgl1 C T 11: 60,604,010 (GRCm39) R1055W probably damaging Het
Lrriq3 T C 3: 154,835,138 (GRCm39) probably null Het
Mmp1a A G 9: 7,467,294 (GRCm39) E290G probably damaging Het
Ncstn A G 1: 171,899,731 (GRCm39) V317A probably benign Het
Nfxl1 G A 5: 72,713,541 (GRCm39) T134I possibly damaging Het
Nup155 A T 15: 8,183,122 (GRCm39) probably null Het
Nup214 C A 2: 31,892,619 (GRCm39) P680T probably damaging Het
Or6c212 G A 10: 129,558,799 (GRCm39) L205F probably damaging Het
Or7h8 A G 9: 20,124,454 (GRCm39) K270E probably benign Het
Or8b12 A G 9: 37,657,943 (GRCm39) N171S probably benign Het
Or8b9 G A 9: 37,766,515 (GRCm39) V134I probably benign Het
Pkd2 T C 5: 104,628,198 (GRCm39) F424S probably damaging Het
Plb1 A G 5: 32,499,259 (GRCm39) D1074G probably damaging Het
Ppm1l T C 3: 69,224,927 (GRCm39) S10P possibly damaging Het
Rnf213 A G 11: 119,331,634 (GRCm39) H2281R probably damaging Het
Rpa2 G T 4: 132,503,559 (GRCm39) A3S probably benign Het
Sardh A G 2: 27,101,096 (GRCm39) V698A possibly damaging Het
Saxo2 A T 7: 82,284,586 (GRCm39) C91S probably benign Het
Slc3a2 T C 19: 8,685,406 (GRCm39) D198G probably damaging Het
Spata31d1d T A 13: 59,876,592 (GRCm39) E314D probably benign Het
Sptlc3 T C 2: 139,388,398 (GRCm39) V130A probably benign Het
Stpg3 C A 2: 25,103,580 (GRCm39) E115* probably null Het
Tbcd T A 11: 121,342,927 (GRCm39) D19E probably benign Het
Xrcc3 T C 12: 111,778,545 (GRCm39) D2G 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
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
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'- ACACAGAGGTTTCAAAAGCCATG -3'
(R):5'- CTCACCACTTCTGGGAAATATTTG -3'

Sequencing Primer
(F):5'- CAGAGGTTTCAAAAGCCATGTTTCTC -3'
(R):5'- ACCACTTCTGGGAAATATTTGTTTAC -3'
Posted On 2016-09-01