Incidental Mutation 'R0220:Cdh8'
ID 33789
Institutional Source Beutler Lab
Gene Symbol Cdh8
Ensembl Gene ENSMUSG00000036510
Gene Name cadherin 8
Synonyms cad8
MMRRC Submission 038469-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0220 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 99751103-100143103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 99838311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 510 (P510T)
Ref Sequence ENSEMBL: ENSMUSP00000114507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093249] [ENSMUST00000128860] [ENSMUST00000142129] [ENSMUST00000145601] [ENSMUST00000155527]
AlphaFold P97291
Predicted Effect probably benign
Transcript: ENSMUST00000093249
AA Change: P510T

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000090935
Gene: ENSMUSG00000036510
AA Change: P510T

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 benign
Transcript: ENSMUST00000128860
AA Change: P510T

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000117326
Gene: ENSMUSG00000036510
AA Change: P510T

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: P510T

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114507
Gene: ENSMUSG00000036510
AA Change: P510T

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 benign
Transcript: ENSMUST00000155527
AA Change: P510T

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000123619
Gene: ENSMUSG00000036510
AA Change: P510T

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: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,195,194 (GRCm39) probably null Het
Abcc5 A G 16: 20,187,852 (GRCm39) V863A probably benign Het
Anxa6 A C 11: 54,872,588 (GRCm39) probably null Het
Armc10 A G 5: 21,866,582 (GRCm39) K296R probably benign Het
Arpc2 T A 1: 74,287,293 (GRCm39) F38I probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Bcl6 T A 16: 23,784,969 (GRCm39) H677L possibly damaging Het
Bcl7a G A 5: 123,489,982 (GRCm39) V49I probably damaging Het
Ccnj T C 19: 40,833,254 (GRCm39) L144P probably damaging Het
Cgnl1 C A 9: 71,632,225 (GRCm39) K375N possibly damaging Het
Cubn C A 2: 13,361,520 (GRCm39) R1695L probably damaging Het
Cyp3a59 G A 5: 146,035,080 (GRCm39) V253I probably benign Het
Cyp4f13 A G 17: 33,148,476 (GRCm39) I208T probably damaging Het
Dennd4a A C 9: 64,759,727 (GRCm39) E277D probably damaging Het
Depdc1a G A 3: 159,229,542 (GRCm39) V625I probably benign Het
Dot1l A T 10: 80,621,692 (GRCm39) D448V probably damaging Het
Efhc1 A G 1: 21,037,582 (GRCm39) D253G probably damaging Het
Eme1 T A 11: 94,541,084 (GRCm39) E246V probably null Het
Foxred1 A G 9: 35,120,749 (GRCm39) L128P probably damaging Het
Gm4787 G T 12: 81,425,422 (GRCm39) S245R probably damaging Het
Gm5141 T A 13: 62,922,271 (GRCm39) K299N probably damaging Het
Greb1 C A 12: 16,732,287 (GRCm39) R1558L probably damaging Het
Ip6k3 A T 17: 27,364,203 (GRCm39) F282I probably damaging Het
Kdm2a T C 19: 4,374,947 (GRCm39) D288G possibly damaging Het
Kdm4d A T 9: 14,374,418 (GRCm39) V480E probably benign Het
Kif26a A T 12: 112,123,824 (GRCm39) Q143L probably damaging Het
Klhl41 G A 2: 69,500,829 (GRCm39) D97N probably benign Het
Krt34 C T 11: 99,929,519 (GRCm39) probably benign Het
Lcn11 A T 2: 25,667,843 (GRCm39) H77L probably benign Het
Megf6 G A 4: 154,342,672 (GRCm39) R529H probably damaging Het
Mipol1 A G 12: 57,503,936 (GRCm39) E368G probably damaging Het
Mtus1 A T 8: 41,447,609 (GRCm39) M442K probably damaging Het
Naca T C 10: 127,879,255 (GRCm39) probably benign Het
Nbea G A 3: 55,912,724 (GRCm39) T1021I probably benign Het
Nfib A T 4: 82,215,013 (GRCm39) V530E probably damaging Het
Nptx1 A G 11: 119,435,467 (GRCm39) V283A probably damaging Het
Opn5 A G 17: 42,907,495 (GRCm39) V127A probably benign Het
Or4c126 G T 2: 89,824,206 (GRCm39) L156F probably benign Het
Or5h22 A T 16: 58,895,095 (GRCm39) M116K probably damaging Het
Pcgf6 A G 19: 47,028,529 (GRCm39) V291A probably benign Het
Pilrb2 C A 5: 137,869,459 (GRCm39) R47L probably benign Het
Prom2 A C 2: 127,383,027 (GRCm39) S72A probably benign Het
Sema3e T C 5: 14,214,167 (GRCm39) F144S possibly damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Smarcc2 A T 10: 128,319,505 (GRCm39) D798V probably benign Het
Taf5 T C 19: 47,068,999 (GRCm39) S563P probably damaging Het
Topaz1 A G 9: 122,578,368 (GRCm39) H426R possibly damaging Het
Tpgs1 T A 10: 79,511,271 (GRCm39) C138S possibly damaging Het
Traf1 A T 2: 34,839,115 (GRCm39) V70D probably benign Het
Ttn T C 2: 76,641,737 (GRCm39) Y13453C probably damaging Het
Ubxn4 T A 1: 128,183,931 (GRCm39) V97D possibly damaging Het
Ugt1a8 A T 1: 88,016,057 (GRCm39) I157L probably benign Het
Vmn2r13 A T 5: 109,304,332 (GRCm39) C700S probably damaging Het
Wee1 A T 7: 109,723,733 (GRCm39) D216V probably benign Het
Zc3h4 T C 7: 16,163,198 (GRCm39) Y533H unknown Het
Zfp1005 A T 2: 150,110,595 (GRCm39) Q428H unknown Het
Zfp81 A G 17: 33,555,698 (GRCm39) I43T possibly damaging Het
Zfp963 A T 8: 70,196,145 (GRCm39) Y103N probably benign Het
Zfp963 A T 8: 70,196,143 (GRCm39) Y103* probably null Het
Zzef1 G T 11: 72,756,792 (GRCm39) D1126Y 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
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
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'- GCAGATCACTGCACTTTTATGTGCC -3'
(R):5'- TGTGGGGTCATCCCCAGAACAATAG -3'

Sequencing Primer
(F):5'- ACTGCACTTTTATGTGCCAATTTG -3'
(R):5'- GACTCCATGTCAGGTGAAAATATCC -3'
Posted On 2013-05-09