Incidental Mutation 'R7240:Cd300c'
ID 563158
Institutional Source Beutler Lab
Gene Symbol Cd300c
Ensembl Gene ENSMUSG00000058728
Gene Name CD300C molecule
Synonyms Clm6
MMRRC Submission 045347-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7240 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 114956116-114969157 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114959783 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 65 (C65R)
Ref Sequence ENSEMBL: ENSMUSP00000052647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061637] [ENSMUST00000092466]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000061637
AA Change: C65R

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052647
Gene: ENSMUSG00000058728
AA Change: C65R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IG 28 133 2.48e-8 SMART
low complexity region 174 187 N/A INTRINSIC
transmembrane domain 188 210 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000092466
AA Change: C65R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090123
Gene: ENSMUSG00000058728
AA Change: C65R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IG 28 133 2.48e-8 SMART
low complexity region 174 187 N/A INTRINSIC
transmembrane domain 188 210 N/A INTRINSIC
Meta Mutation Damage Score 0.3921 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210017I01Rik A G 3: 92,605,075 I59T unknown Het
Aspm C T 1: 139,478,651 Q1759* probably null Het
Atn1 A T 6: 124,747,898 I124K unknown Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,397,572 probably benign Het
Ccdc88c C T 12: 100,944,939 V879M probably benign Het
Cd69 A T 6: 129,270,042 S112T possibly damaging Het
Cdh19 T C 1: 110,893,407 T534A probably benign Het
Cdk5rap2 T A 4: 70,291,908 D701V probably damaging Het
D130052B06Rik A G 11: 33,623,874 H157R possibly damaging Het
Dpf1 T A 7: 29,311,627 F150L probably benign Het
Dsg1c T C 18: 20,283,109 L689P probably damaging Het
Dstyk G A 1: 132,454,123 M538I probably benign Het
E4f1 T A 17: 24,444,325 I669F probably damaging Het
Gm7138 T C 10: 77,776,755 T64A unknown Het
Gnai2 A C 9: 107,615,773 D310E Het
Iqca A G 1: 90,070,550 V567A possibly damaging Het
Iqgap1 A T 7: 80,759,839 N249K probably benign Het
Lamc1 A G 1: 153,234,650 V1093A possibly damaging Het
Mfap3 A G 11: 57,529,756 K188E probably damaging Het
N4bp2 T A 5: 65,794,545 V431D probably damaging Het
Notch4 A G 17: 34,576,471 T792A probably benign Het
Ntn4 A G 10: 93,745,741 H592R probably damaging Het
Ofcc1 A G 13: 40,208,841 C202R probably benign Het
Olfr13 A G 6: 43,174,501 K172E probably benign Het
Olfr418 T C 1: 173,270,994 I273T probably benign Het
Olfr476 T C 7: 107,968,188 S264P probably benign Het
Olfr497 A G 7: 108,422,933 M121V probably damaging Het
Olfr922 A G 9: 38,815,713 D70G probably benign Het
Olfr938 A T 9: 39,078,610 M45K probably damaging Het
Parpbp G A 10: 88,124,940 T228I probably damaging Het
Pcdhgb8 G A 18: 37,763,703 V609M probably damaging Het
Pla2g4d T C 2: 120,270,349 N543S probably damaging Het
Puf60 A G 15: 76,072,539 probably benign Het
Rbm6 A T 9: 107,852,896 D184E probably damaging Het
Rnase9 A C 14: 51,038,979 S181A probably benign Het
Rnpc3 T A 3: 113,616,831 R270S probably damaging Het
Rundc1 T C 11: 101,431,548 probably null Het
Ryr1 T C 7: 29,052,015 S3715G possibly damaging Het
Scn3a A T 2: 65,469,042 D1373E possibly damaging Het
Serpina3k T G 12: 104,340,602 I31S probably benign Het
Sipa1l2 A G 8: 125,469,860 F712L probably damaging Het
Slc22a29 A G 19: 8,161,511 V529A probably damaging Het
Tdrd3 A G 14: 87,458,803 N58S probably benign Het
Tmc2 C T 2: 130,234,804 T350I possibly damaging Het
Tpst2 T C 5: 112,307,678 C28R probably benign Het
Trbv21 A T 6: 41,202,958 K69N probably benign Het
Trpm2 A G 10: 77,935,876 probably null Het
Ttn A G 2: 76,848,990 V10796A unknown Het
Ush2a A G 1: 188,911,661 T4407A possibly damaging Het
Vmn2r95 A G 17: 18,451,963 H726R probably benign Het
Zfp777 A G 6: 48,044,449 S80P probably benign Het
Other mutations in Cd300c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Cd300c APN 11 114959790 missense probably benign
IGL01067:Cd300c APN 11 114960427 unclassified probably benign
R0325:Cd300c UTSW 11 114959585 nonsense probably null
R1471:Cd300c UTSW 11 114959788 missense probably benign 0.09
R2880:Cd300c UTSW 11 114959790 missense probably benign
R3830:Cd300c UTSW 11 114959627 missense probably benign 0.00
R6369:Cd300c UTSW 11 114957555 missense probably damaging 1.00
R9087:Cd300c UTSW 11 114959765 missense probably damaging 1.00
R9471:Cd300c UTSW 11 114956390 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACCTCAACCTTGAAGGACTTATC -3'
(R):5'- CTGACGCAAGGGAAGACTTC -3'

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