Incidental Mutation 'R1631:Cdhr18'
ID 172813
Institutional Source Beutler Lab
Gene Symbol Cdhr18
Ensembl Gene ENSMUSG00000084902
Gene Name cadherin related family member 18
Synonyms Gm281, LOC238939
MMRRC Submission 039668-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R1631 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 8555242-8646046 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 13829796 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 649 (E649K)
Ref Sequence ENSEMBL: ENSMUSP00000121887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000144914]
AlphaFold D3Z1Y0
Predicted Effect probably damaging
Transcript: ENSMUST00000144914
AA Change: E649K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121887
Gene: ENSMUSG00000084902
AA Change: E649K

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
CA 32 127 3.45e-2 SMART
CA 156 230 7.87e-9 SMART
CA 274 352 1.36e-3 SMART
CA 376 470 6.99e-3 SMART
CA 492 563 8.69e-11 SMART
CA 589 683 2.09e-1 SMART
transmembrane domain 705 727 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts10 T A 17: 33,756,316 (GRCm39) S320T probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Als2 T C 1: 59,257,226 (GRCm39) E12G probably benign Het
Arhgef10 A T 8: 14,997,157 (GRCm39) D321V probably damaging Het
Atp8a1 T G 5: 67,906,395 (GRCm39) probably null Het
Avil A G 10: 126,846,494 (GRCm39) probably null Het
C2cd3 G A 7: 100,021,704 (GRCm39) probably null Het
Col18a1 G A 10: 76,895,131 (GRCm39) P1177S probably damaging Het
Copb2 T A 9: 98,462,213 (GRCm39) F428L probably benign Het
Cpa1 A G 6: 30,640,923 (GRCm39) E138G probably damaging Het
Ctsm T C 13: 61,686,249 (GRCm39) I12V possibly damaging Het
Dctn1 A G 6: 83,174,578 (GRCm39) Q967R possibly damaging Het
Dok2 T C 14: 71,014,393 (GRCm39) Y194H probably damaging Het
Ezh2 C T 6: 47,554,592 (GRCm39) M1I probably null Het
Fkbp8 T A 8: 70,984,282 (GRCm39) L210Q probably damaging Het
Fpr1 T A 17: 18,097,263 (GRCm39) Q242L probably benign Het
Gal3st2b T A 1: 93,868,505 (GRCm39) D243E probably damaging Het
Gm5422 A G 10: 31,125,802 (GRCm39) noncoding transcript Het
Gucy1a2 A G 9: 3,533,052 (GRCm39) N84D probably damaging Het
Hsd3b5 A C 3: 98,529,393 (GRCm39) V79G probably damaging Het
Htr6 A T 4: 138,788,804 (GRCm39) V417E probably benign Het
Ifnar2 G A 16: 91,188,755 (GRCm39) V79I probably benign Het
Ighv10-1 T C 12: 114,443,102 (GRCm39) probably benign Het
Itpr2 A G 6: 146,081,788 (GRCm39) F182L probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lama3 A G 18: 12,540,551 (GRCm39) Y285C probably damaging Het
Lamc2 C A 1: 153,034,680 (GRCm39) V108L possibly damaging Het
Lrrc14b A G 13: 74,509,373 (GRCm39) probably null Het
Magi3 T C 3: 103,958,493 (GRCm39) T531A probably benign Het
Mapre2 A G 18: 23,966,011 (GRCm39) Y32C probably damaging Het
Med1 C T 11: 98,046,452 (GRCm39) probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nt5el C A 13: 105,218,749 (GRCm39) Q28K probably benign Het
Or10a3b A C 7: 108,445,064 (GRCm39) L51R probably damaging Het
Or51h1 A G 7: 102,308,408 (GRCm39) I127V probably damaging Het
Or5h23 G A 16: 58,906,408 (GRCm39) T146I probably benign Het
Or7a35 A T 10: 78,853,239 (GRCm39) I28L probably benign Het
Pde1b A G 15: 103,430,099 (GRCm39) T143A probably damaging Het
Pkhd1 T C 1: 20,593,121 (GRCm39) D1664G probably benign Het
Plod3 C T 5: 137,017,847 (GRCm39) R208W probably damaging Het
Pstk G A 7: 130,986,271 (GRCm39) A277T possibly damaging Het
Qrich1 T C 9: 108,411,684 (GRCm39) V403A probably damaging Het
Rad21 C A 15: 51,833,436 (GRCm39) V348F probably damaging Het
Sacs T A 14: 61,448,181 (GRCm39) L3409* probably null Het
Setd4 T A 16: 93,390,136 (GRCm39) K98* probably null Het
Skint5 A G 4: 113,341,123 (GRCm39) V1385A probably benign Het
Stam C A 2: 14,151,059 (GRCm39) S472* probably null Het
Stx2 A G 5: 129,069,289 (GRCm39) F141L probably damaging Het
Tia1 A G 6: 86,397,330 (GRCm39) D101G probably damaging Het
Ttc21a T A 9: 119,783,228 (GRCm39) probably null Het
Usp34 T A 11: 23,410,651 (GRCm39) N2700K probably damaging Het
Other mutations in Cdhr18
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0115:Cdhr18 UTSW 14 13,899,571 (GRCm38) missense probably damaging 0.99
R0842:Cdhr18 UTSW 14 13,856,686 (GRCm38) missense probably benign 0.16
R1252:Cdhr18 UTSW 14 13,862,444 (GRCm38) missense probably benign 0.00
R1275:Cdhr18 UTSW 14 13,896,949 (GRCm38) missense probably damaging 1.00
R1831:Cdhr18 UTSW 14 13,899,619 (GRCm38) missense probably damaging 1.00
R1885:Cdhr18 UTSW 14 13,828,607 (GRCm38) missense probably damaging 1.00
R1886:Cdhr18 UTSW 14 13,828,607 (GRCm38) missense probably damaging 1.00
R1887:Cdhr18 UTSW 14 13,828,607 (GRCm38) missense probably damaging 1.00
R1903:Cdhr18 UTSW 14 13,829,657 (GRCm38) missense possibly damaging 0.94
R1940:Cdhr18 UTSW 14 13,828,582 (GRCm38) missense probably null 0.95
R2324:Cdhr18 UTSW 14 13,868,077 (GRCm38) missense probably damaging 1.00
R3923:Cdhr18 UTSW 14 13,865,990 (GRCm38) nonsense probably null
R4193:Cdhr18 UTSW 14 13,914,416 (GRCm38) missense probably benign 0.02
R4195:Cdhr18 UTSW 14 13,829,772 (GRCm38) missense probably benign 0.05
R4370:Cdhr18 UTSW 14 13,862,375 (GRCm38) missense probably benign 0.03
R4675:Cdhr18 UTSW 14 13,856,724 (GRCm38) missense probably benign 0.32
R4734:Cdhr18 UTSW 14 13,845,292 (GRCm38) missense probably benign 0.13
R5387:Cdhr18 UTSW 14 13,914,438 (GRCm38) start codon destroyed probably null 0.82
R6037:Cdhr18 UTSW 14 13,864,282 (GRCm38) missense probably damaging 1.00
R6037:Cdhr18 UTSW 14 13,864,282 (GRCm38) missense probably damaging 1.00
R6177:Cdhr18 UTSW 14 13,868,002 (GRCm38) missense probably benign 0.08
R7051:Cdhr18 UTSW 14 13,828,486 (GRCm38) missense
R7205:Cdhr18 UTSW 14 13,866,032 (GRCm38) missense
R7258:Cdhr18 UTSW 14 13,899,648 (GRCm38) missense
R7833:Cdhr18 UTSW 14 13,896,968 (GRCm38) splice site probably null
R8309:Cdhr18 UTSW 14 13,814,954 (GRCm38) nonsense probably null
R8911:Cdhr18 UTSW 14 13,823,796 (GRCm38) critical splice acceptor site probably null
R9124:Cdhr18 UTSW 14 13,864,354 (GRCm38) missense
R9458:Cdhr18 UTSW 14 13,856,709 (GRCm38) missense
R9594:Cdhr18 UTSW 14 13,814,959 (GRCm38) missense unknown
Z1177:Cdhr18 UTSW 14 13,845,421 (GRCm38) missense
Z1177:Cdhr18 UTSW 14 13,823,754 (GRCm38) missense
Predicted Primers PCR Primer
(F):5'- GGCATATGAAAGAGAGCAGTGGTCTGAT -3'
(R):5'- GCCCTGGGTTTGTCTACAAGGACTTTA -3'

Sequencing Primer
(F):5'- AGAGAGCAGTGGTCTGATCATTTAG -3'
(R):5'- cctcttgcctctcctgcc -3'
Posted On 2014-04-24