Incidental Mutation 'R8443:Cdh8'
ID 654312
Institutional Source Beutler Lab
Gene Symbol Cdh8
Ensembl Gene ENSMUSG00000036510
Gene Name cadherin 8
Synonyms cad8
MMRRC Submission 067825-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8443 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 99751103-100143103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99757672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 642 (V642A)
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: V642A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090935
Gene: ENSMUSG00000036510
AA Change: V642A

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: V642A

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117326
Gene: ENSMUSG00000036510
AA Change: V642A

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: V642A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114507
Gene: ENSMUSG00000036510
AA Change: V642A

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: V642A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123619
Gene: ENSMUSG00000036510
AA Change: V642A

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: 99.1%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 C T 7: 45,629,449 (GRCm39) V1293M probably damaging Het
Agt A G 8: 125,290,537 (GRCm39) W257R possibly damaging Het
Arhgef11 T A 3: 87,620,406 (GRCm39) N457K probably benign Het
Bcl3 G T 7: 19,554,082 (GRCm39) H95Q probably benign Het
C1d T A 11: 17,213,662 (GRCm39) N64K probably damaging Het
Casc3 C T 11: 98,713,607 (GRCm39) R280C probably damaging Het
Cd300c2 C T 11: 114,891,466 (GRCm39) S136N probably benign Het
Cep290 A T 10: 100,331,706 (GRCm39) I180F possibly damaging Het
Copz2 A G 11: 96,744,887 (GRCm39) E86G probably damaging Het
Cplane1 A G 15: 8,230,635 (GRCm39) I971V probably benign Het
Cracdl A G 1: 37,652,537 (GRCm39) V1090A probably benign Het
Csf3r A T 4: 125,923,712 (GRCm39) D74V possibly damaging Het
Cyp11b1 T G 15: 74,710,789 (GRCm39) E257A possibly damaging Het
Dlg2 A G 7: 92,024,875 (GRCm39) Q580R probably damaging Het
Dnai2 A T 11: 114,645,275 (GRCm39) K570M unknown Het
Dock8 A G 19: 25,133,281 (GRCm39) K1143E probably benign Het
Dxo T C 17: 35,058,099 (GRCm39) S394P probably benign Het
Etl4 A G 2: 20,810,977 (GRCm39) D1388G probably benign Het
F13a1 C A 13: 37,209,692 (GRCm39) R91L probably damaging Het
Fam50b C T 13: 34,930,856 (GRCm39) R111* probably null Het
Fat2 T G 11: 55,202,535 (GRCm39) N180H probably damaging Het
Fitm2 A T 2: 163,311,768 (GRCm39) H148Q probably benign Het
Fjx1 A T 2: 102,281,156 (GRCm39) S260T possibly damaging Het
Fos T C 12: 85,522,466 (GRCm39) L165P probably damaging Het
Gm39115 C A 7: 141,689,710 (GRCm39) C21F unknown Het
Gucy1a1 C T 3: 82,005,000 (GRCm39) C595Y probably damaging Het
Hectd4 G T 5: 121,467,172 (GRCm39) W2478L possibly damaging Het
I830077J02Rik T A 3: 105,836,060 (GRCm39) K9N probably damaging Het
Ift70a1 T C 2: 75,811,519 (GRCm39) D188G probably benign Het
Ireb2 T C 9: 54,811,265 (GRCm39) F723L possibly damaging Het
Itpr1 G A 6: 108,496,309 (GRCm39) V2580I probably damaging Het
Kcnu1 G A 8: 26,382,092 (GRCm39) G481R probably damaging Het
Kdm3b G T 18: 34,926,129 (GRCm39) A90S probably benign Het
Klra8 A G 6: 130,105,056 (GRCm39) V23A probably damaging Het
Lig4 A G 8: 10,023,777 (GRCm39) M1T probably null Het
Lpin3 C T 2: 160,737,273 (GRCm39) P107S probably damaging Het
Lrp1b T A 2: 41,265,867 (GRCm39) K1100* probably null Het
Obscn G A 11: 58,929,700 (GRCm39) H5172Y probably damaging Het
Or10a3m T A 7: 108,313,418 (GRCm39) M286K possibly damaging Het
Or4p20 A G 2: 88,253,745 (GRCm39) I208T probably benign Het
Or5ae1 C T 7: 84,565,787 (GRCm39) H267Y probably benign Het
Or6z1 T A 7: 6,504,734 (GRCm39) T170S probably damaging Het
Or8c14-ps1 A T 9: 38,101,498 (GRCm39) H159L possibly damaging Het
Orc3 A G 4: 34,593,173 (GRCm39) L298P probably damaging Het
Otub1 A G 19: 7,177,360 (GRCm39) F96L probably damaging Het
Pcnx3 A G 19: 5,736,670 (GRCm39) S156P probably benign Het
Pde3b A G 7: 114,126,129 (GRCm39) M788V probably damaging Het
Pias4 A G 10: 80,992,844 (GRCm39) probably null Het
Polg A G 7: 79,114,743 (GRCm39) C73R probably benign Het
Ptbp2 T C 3: 119,541,467 (GRCm39) Y190C probably damaging Het
Rab33b T A 3: 51,401,050 (GRCm39) F175I probably damaging Het
Rfx1 A G 8: 84,806,515 (GRCm39) T108A probably benign Het
Ribc2 A G 15: 85,019,461 (GRCm39) D81G probably benign Het
Rnf213 T G 11: 119,340,149 (GRCm39) M3460R Het
Rsf1 T A 7: 97,266,103 (GRCm39) S86T Het
Rxfp2 C A 5: 149,973,068 (GRCm39) T181N possibly damaging Het
Samm50 G A 15: 84,094,702 (GRCm39) E365K possibly damaging Het
Shld2 A C 14: 33,989,942 (GRCm39) N321K probably benign Het
Slc22a18 T C 7: 143,051,123 (GRCm39) V334A probably damaging Het
Slc23a3 A T 1: 75,110,085 (GRCm39) C97S probably benign Het
Smchd1 T A 17: 71,714,244 (GRCm39) H873L probably benign Het
Snrpa1 G A 7: 65,720,381 (GRCm39) G195R probably benign Het
Sphkap T A 1: 83,255,953 (GRCm39) I599F probably benign Het
Stox1 A G 10: 62,501,543 (GRCm39) V339A probably damaging Het
Tlx1 A G 19: 45,142,036 (GRCm39) E220G probably damaging Het
Tmem71 C A 15: 66,413,421 (GRCm39) probably null Het
Tmprss3 T C 17: 31,413,976 (GRCm39) D56G possibly damaging Het
Trabd A G 15: 88,970,107 (GRCm39) R368G probably benign Het
Trf A G 9: 103,094,675 (GRCm39) I461T probably damaging Het
Trpm3 A G 19: 22,676,226 (GRCm39) T133A possibly damaging Het
Trpv3 G A 11: 73,186,209 (GRCm39) V667I possibly damaging Het
Vps13b T A 15: 35,455,246 (GRCm39) N718K probably benign Het
Zdbf2 T C 1: 63,345,166 (GRCm39) S1182P possibly damaging Het
Zfp13 T C 17: 23,795,866 (GRCm39) D235G probably benign Het
Zfp407 T C 18: 84,227,987 (GRCm39) E1874G probably damaging Het
Zfp503 T C 14: 22,036,277 (GRCm39) K213R probably benign Het
Zkscan2 A G 7: 123,084,651 (GRCm39) V491A 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
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
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'- CCCTTGCCTTGGCATAAACTG -3'
(R):5'- AAGAGCCTCTTCAGTATTAAACCG -3'

Sequencing Primer
(F):5'- AATCTGGTTTAATATCCTTACGGGG -3'
(R):5'- TTAAACCGTTAAAGCAGTGAGC -3'
Posted On 2020-10-20