Incidental Mutation 'R7181:Cdh8'
ID 558984
Institutional Source Beutler Lab
Gene Symbol Cdh8
Ensembl Gene ENSMUSG00000036510
Gene Name cadherin 8
Synonyms cad8
MMRRC Submission 045270-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7181 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 99751103-100143103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99825557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 520 (M520K)
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 benign
Transcript: ENSMUST00000093249
AA Change: M520K

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000090935
Gene: ENSMUSG00000036510
AA Change: M520K

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: M520K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117326
Gene: ENSMUSG00000036510
AA Change: M520K

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: M520K

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000114507
Gene: ENSMUSG00000036510
AA Change: M520K

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
AA Change: H479Q

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000122493
Gene: ENSMUSG00000036510
AA Change: H479Q

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: M520K

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000123619
Gene: ENSMUSG00000036510
AA Change: M520K

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: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (62/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,188,037 (GRCm39) N182D probably benign Het
Adgrl1 A G 8: 84,652,878 (GRCm39) probably null Het
Adm T C 7: 110,228,236 (GRCm39) I139T probably damaging Het
Ahnak A T 19: 8,990,852 (GRCm39) K4045N probably damaging Het
Axin1 T A 17: 26,392,752 (GRCm39) S344R probably damaging Het
Cacna1g T C 11: 94,306,691 (GRCm39) S1896G probably benign Het
Cd209c A G 8: 3,995,712 (GRCm39) V30A probably benign Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cyp2b23 G A 7: 26,373,828 (GRCm39) T306I probably damaging Het
Dnajc10 T G 2: 80,149,587 (GRCm39) Y96* probably null Het
Eif1ad14 G A 12: 87,886,492 (GRCm39) R46W possibly damaging Het
Elmod1 A C 9: 53,841,382 (GRCm39) probably null Het
Eva1b A G 4: 126,043,446 (GRCm39) H162R possibly damaging Het
Fam222b A T 11: 78,045,804 (GRCm39) N455I probably damaging Het
Fer1l6 G A 15: 58,447,146 (GRCm39) A626T probably benign Het
Fgd6 A G 10: 93,879,373 (GRCm39) T76A probably benign Het
Fndc7 A G 3: 108,788,640 (GRCm39) probably null Het
Gabrg2 T A 11: 41,811,261 (GRCm39) I295F probably damaging Het
Gm10406 A T 14: 7,027,359 (GRCm38) probably null Het
Gm47189 T C 14: 41,492,059 (GRCm39) M73V probably benign Het
Gm9758 A T 5: 14,963,667 (GRCm39) S54T probably damaging Het
Gm9857 A G 3: 108,847,554 (GRCm39) S70P unknown Het
Gsap A T 5: 21,458,427 (GRCm39) E470D probably damaging Het
Hesx1 T A 14: 26,722,678 (GRCm39) M1K probably null Het
Hirip3 A G 7: 126,463,235 (GRCm39) D397G probably damaging Het
Kalrn T A 16: 33,983,447 (GRCm39) N13I probably benign Het
Mettl8 A T 2: 70,803,706 (GRCm39) S194T possibly damaging Het
Mrps35 T G 6: 146,957,491 (GRCm39) probably null Het
Myrfl G T 10: 116,697,448 (GRCm39) N25K probably damaging Het
Or51b6b C A 7: 103,310,020 (GRCm39) G146C probably damaging Het
Or7a41 A G 10: 78,871,287 (GRCm39) Y219C probably damaging Het
Or9k2b A T 10: 130,016,626 (GRCm39) I41N possibly damaging Het
Phf14 A T 6: 11,933,340 (GRCm39) E67D unknown Het
Prdm16 C T 4: 154,613,094 (GRCm39) G111D probably damaging Het
Prex1 G A 2: 166,412,291 (GRCm39) A1568V probably damaging Het
Ptpn23 G A 9: 110,214,325 (GRCm39) T1692I unknown Het
Ptprb C T 10: 116,204,671 (GRCm39) S1835L probably damaging Het
Rbm19 G A 5: 120,254,532 (GRCm39) probably benign Het
Rgs7bp T A 13: 105,119,382 (GRCm39) H152L possibly damaging Het
Rmdn3 A T 2: 118,969,849 (GRCm39) L404Q probably damaging Het
Rock2 T A 12: 17,023,144 (GRCm39) F1148I probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sec24c C A 14: 20,739,401 (GRCm39) H559N probably damaging Het
Sephs2 T C 7: 126,872,992 (GRCm39) S34G probably benign Het
Serpina6 A T 12: 103,613,203 (GRCm39) S366T probably benign Het
Serpinb7 A T 1: 107,378,052 (GRCm39) E248D probably benign Het
Sesn1 G T 10: 41,779,724 (GRCm39) R386L possibly damaging Het
Skida1 T C 2: 18,051,602 (GRCm39) S430G unknown Het
Slc28a2 A T 2: 122,282,462 (GRCm39) probably null Het
Slc39a8 T C 3: 135,563,299 (GRCm39) F203S possibly damaging Het
Svip A G 7: 51,653,177 (GRCm39) S46P possibly damaging Het
Tbx21 T A 11: 96,989,923 (GRCm39) D423V probably benign Het
Tcirg1 G A 19: 3,953,576 (GRCm39) A117V probably null Het
Tmem63b T A 17: 45,984,094 (GRCm39) K258N probably benign Het
Tmem94 A G 11: 115,685,600 (GRCm39) N951S probably damaging Het
Uba2 G T 7: 33,840,854 (GRCm39) D591E probably benign Het
Unc13b C T 4: 43,258,893 (GRCm39) R1356W probably damaging Het
Wasf3 A G 5: 146,403,615 (GRCm39) T242A probably benign Het
Wscd1 T C 11: 71,650,709 (GRCm39) L12P probably damaging Het
Zfp770 T C 2: 114,027,872 (GRCm39) K66E probably damaging Het
Zfyve26 A T 12: 79,315,182 (GRCm39) D1431E probably benign Het
Zhx2 G A 15: 57,686,746 (GRCm39) R705H 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
R7112:Cdh8 UTSW 8 99,922,984 (GRCm39) missense probably damaging 1.00
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'- CTGGCTTTCAGCTACTCATGAG -3'
(R):5'- TGGATTTTGCTCCAAAACCTTG -3'

Sequencing Primer
(F):5'- GGCTTTCAGCTACTCATGAGTGAAC -3'
(R):5'- CCACAAAAGCGATGTCAG -3'
Posted On 2019-06-26