Incidental Mutation 'R6786:Cdh8'
ID 532378
Institutional Source Beutler Lab
Gene Symbol Cdh8
Ensembl Gene ENSMUSG00000036510
Gene Name cadherin 8
Synonyms cad8
MMRRC Submission 044900-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6786 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 99751103-100143103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99950579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 224 (T224S)
Ref Sequence ENSEMBL: ENSMUSP00000115977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093249] [ENSMUST00000128860] [ENSMUST00000142129] [ENSMUST00000142475] [ENSMUST00000145601] [ENSMUST00000155527]
AlphaFold P97291
Predicted Effect probably benign
Transcript: ENSMUST00000093249
SMART Domains Protein: ENSMUSP00000090935
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 413 494 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
SMART Domains Protein: ENSMUSP00000117326
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 413 494 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
SMART Domains Protein: ENSMUSP00000114507
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 413 494 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: ENSMUST00000142475
AA Change: T224S

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000115977
Gene: ENSMUSG00000036510
AA Change: T224S

DomainStartEndE-ValueType
low complexity region 12 24 N/A INTRINSIC
CA 84 165 9.52e-17 SMART
Pfam:Cadherin 172 242 2.2e-10 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
SMART Domains Protein: ENSMUSP00000123619
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 413 494 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: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
Validation Efficiency 96% (66/69)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7a C A 4: 56,744,116 (GRCm39) Y214* probably null Het
Adnp2 A G 18: 80,172,960 (GRCm39) V483A probably benign Het
Aif1 C T 17: 35,390,472 (GRCm39) V93M probably damaging Het
Alpk2 A G 18: 65,439,705 (GRCm39) S563P probably benign Het
Ank2 A T 3: 126,752,581 (GRCm39) N378K probably damaging Het
Ano4 C T 10: 88,828,732 (GRCm39) probably null Het
Asxl3 G A 18: 22,658,497 (GRCm39) C2169Y probably damaging Het
Atp2b1 T C 10: 98,852,821 (GRCm39) C101R probably damaging Het
Bcs1l C T 1: 74,629,844 (GRCm39) R224C probably damaging Het
Car2 T C 3: 14,951,710 (GRCm39) probably benign Het
Cbln1 T C 8: 88,198,657 (GRCm39) N71S probably benign Het
Cdin1 A G 2: 115,462,462 (GRCm39) I65V probably benign Het
Cep131 G A 11: 119,956,218 (GRCm39) R1014W probably damaging Het
Cfap61 T C 2: 145,887,363 (GRCm39) S603P possibly damaging Het
Chd8 G T 14: 52,464,125 (GRCm39) L659I probably benign Het
Ckap5 G A 2: 91,387,920 (GRCm39) G255D probably benign Het
Clec18a C A 8: 111,807,572 (GRCm39) W126L probably benign Het
Cux1 T A 5: 136,596,085 (GRCm39) N4Y probably damaging Het
Dgcr8 A T 16: 18,101,693 (GRCm39) Y196* probably null Het
Dnah14 A T 1: 181,468,970 (GRCm39) I1267F probably benign Het
Dock7 T C 4: 98,949,529 (GRCm39) N438D probably benign Het
Dock8 A T 19: 25,160,386 (GRCm39) H1763L possibly damaging Het
Elp1 T C 4: 56,771,555 (GRCm39) D914G possibly damaging Het
Fpr-rs6 A T 17: 20,403,100 (GRCm39) M87K possibly damaging Het
Gabrg1 A G 5: 70,911,610 (GRCm39) S339P probably benign Het
Gm10801 AAGT AAGTAGT 2: 98,494,148 (GRCm39) probably null Het
Gm12695 A G 4: 96,651,058 (GRCm39) S132P probably damaging Het
Gm3443 T A 19: 21,533,128 (GRCm39) C31S probably damaging Het
Gzmf A T 14: 56,444,452 (GRCm39) F40L probably benign Het
Herc1 TCCC TCC 9: 66,408,470 (GRCm39) probably null Het
Lrguk A G 6: 34,072,522 (GRCm39) E604G probably benign Het
Marveld3 C A 8: 110,674,732 (GRCm39) K361N probably benign Het
Mgat4b A T 11: 50,121,525 (GRCm39) Y47F probably damaging Het
Mmel1 G T 4: 154,976,885 (GRCm39) E520* probably null Het
Msantd5f6 A T 4: 73,321,843 (GRCm39) M64K possibly damaging Het
Muc21 T C 17: 35,934,057 (GRCm39) probably benign Het
Myod1 A G 7: 46,027,741 (GRCm39) T294A probably benign Het
Nfix A T 8: 85,454,276 (GRCm39) S219T probably damaging Het
Nr4a2 A G 2: 57,001,920 (GRCm39) F115L probably benign Het
Numa1 A C 7: 101,641,845 (GRCm39) M98L probably benign Het
Or5b105 T C 19: 13,080,567 (GRCm39) I28V probably benign Het
P3h1 C T 4: 119,095,151 (GRCm39) L303F possibly damaging Het
Pias4 G A 10: 80,993,080 (GRCm39) T5I probably damaging Het
Pik3ip1 A G 11: 3,282,124 (GRCm39) N68S probably benign Het
Pkdrej T C 15: 85,702,850 (GRCm39) T1029A probably benign Het
Recql A T 6: 142,310,278 (GRCm39) D517E probably benign Het
Sall2 G T 14: 52,552,078 (GRCm39) H372Q probably damaging Het
Scn8a A C 15: 100,930,096 (GRCm39) I1436L probably benign Het
Slc4a5 T C 6: 83,273,729 (GRCm39) probably null Het
Stox2 A C 8: 47,639,500 (GRCm39) F898C probably damaging Het
Sumo2 A T 11: 115,414,601 (GRCm39) probably null Het
Sycp2 C T 2: 178,025,345 (GRCm39) E366K possibly damaging Het
Tanc1 A G 2: 59,622,150 (GRCm39) K423R probably benign Het
Tbx21 T A 11: 97,005,872 (GRCm39) Q31L possibly damaging Het
Tfap2a T A 13: 40,882,230 (GRCm39) N25I probably damaging Het
Tfdp1 C T 8: 13,420,485 (GRCm39) R105W probably damaging Het
Trav18 G A 14: 54,069,122 (GRCm39) V55I probably benign Het
Trgc1 A T 13: 19,400,646 (GRCm39) D125V unknown Het
Trim55 A G 3: 19,726,938 (GRCm39) D335G probably benign Het
Trim71 T A 9: 114,341,772 (GRCm39) T837S probably benign Het
Vmn1r56 T C 7: 5,198,961 (GRCm39) T219A probably benign Het
Vmn2r17 A T 5: 109,575,695 (GRCm39) T189S probably benign Het
Xaf1 A G 11: 72,197,461 (GRCm39) T146A probably benign Het
Zdbf2 T C 1: 63,343,679 (GRCm39) V686A possibly damaging Het
Zfp65 T C 13: 67,856,130 (GRCm39) H383R probably damaging Het
Zfp932 A G 5: 110,157,606 (GRCm39) T435A probably damaging Het
Zfp947 C T 17: 22,364,750 (GRCm39) G308D probably benign Het
Zswim3 T A 2: 164,662,771 (GRCm39) V417E 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
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'- TGGACTGTCCTGAAACTTCACC -3'
(R):5'- AACTTGAAAGTAGGTCCAGATTTCC -3'

Sequencing Primer
(F):5'- CCCAGTTTCCCCAGATAATTAAGC -3'
(R):5'- AGGTCCAGATTTCCTTTATTAGTAGG -3'
Posted On 2018-08-29