Incidental Mutation 'R2880:Cd300c'
ID 260291
Institutional Source Beutler Lab
Gene Symbol Cd300c
Ensembl Gene ENSMUSG00000058728
Gene Name CD300C molecule
Synonyms Clm6
MMRRC Submission 040468-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2880 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 114846931-114851333 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114850616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 62 (N62K)
Ref Sequence ENSEMBL: ENSMUSP00000090123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061637] [ENSMUST00000092466]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000061637
AA Change: N62K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000052647
Gene: ENSMUSG00000058728
AA Change: N62K

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 benign
Transcript: ENSMUST00000092466
AA Change: N62K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000090123
Gene: ENSMUSG00000058728
AA Change: N62K

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 noncoding transcript
Transcript: ENSMUST00000106580
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 C T 10: 88,948,661 (GRCm39) E150K probably damaging Het
Blnk T C 19: 40,950,899 (GRCm39) Y84C probably damaging Het
Brinp3 G A 1: 146,777,740 (GRCm39) R729H probably damaging Het
Bsn C T 9: 107,990,266 (GRCm39) A1829T possibly damaging Het
Chd3 T C 11: 69,242,946 (GRCm39) D1425G probably damaging Het
Ewsr1 C A 11: 5,028,523 (GRCm39) probably benign Het
Gm4076 G A 13: 85,275,357 (GRCm39) noncoding transcript Het
Gm9637 A G 14: 19,401,978 (GRCm38) noncoding transcript Het
Greb1l A T 18: 10,547,288 (GRCm39) N1502I possibly damaging Het
H13 A G 2: 152,537,481 (GRCm39) M309V probably damaging Het
Lmf2 A G 15: 89,235,856 (GRCm39) S683P possibly damaging Het
Lrit1 T A 14: 36,779,394 (GRCm39) L109Q probably damaging Het
Maml2 A T 9: 13,531,893 (GRCm39) probably null Het
Map3k14 C A 11: 103,111,858 (GRCm39) R941L probably damaging Het
Megf6 A G 4: 154,337,006 (GRCm39) K262E probably damaging Het
Mtnr1b T G 9: 15,774,102 (GRCm39) Y319S probably damaging Het
Myh8 A G 11: 67,188,090 (GRCm39) K954R probably damaging Het
Myof T C 19: 37,911,473 (GRCm39) D1486G probably benign Het
Nbea A G 3: 55,554,779 (GRCm39) V2623A probably benign Het
Pak1 T A 7: 97,554,018 (GRCm39) Y463N probably damaging Het
Pex5l T A 3: 33,047,152 (GRCm39) probably null Het
Rasa4 T C 5: 136,120,625 (GRCm39) V87A probably damaging Het
Rnf112 G A 11: 61,341,293 (GRCm39) H431Y possibly damaging Het
Slc25a30 A G 14: 76,007,651 (GRCm39) V118A probably benign Het
Slc4a7 T A 14: 14,773,277 (GRCm38) I872K probably damaging Het
Slc5a11 GGTGC G 7: 122,838,595 (GRCm39) probably null Het
Sycp1 T C 3: 102,726,214 (GRCm39) E970G probably damaging Het
Tex15 T A 8: 34,064,935 (GRCm39) L1455* probably null Het
Tgfb2 T A 1: 186,436,752 (GRCm39) T74S probably damaging Het
Vmn2r65 A T 7: 84,613,094 (GRCm39) C42S probably damaging Het
Zbtb12 T A 17: 35,114,455 (GRCm39) I80N probably damaging Het
Other mutations in Cd300c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Cd300c APN 11 114,850,616 (GRCm39) missense probably benign
IGL01067:Cd300c APN 11 114,851,253 (GRCm39) unclassified probably benign
R0325:Cd300c UTSW 11 114,850,411 (GRCm39) nonsense probably null
R1471:Cd300c UTSW 11 114,850,614 (GRCm39) missense probably benign 0.09
R3830:Cd300c UTSW 11 114,850,453 (GRCm39) missense probably benign 0.00
R6369:Cd300c UTSW 11 114,848,381 (GRCm39) missense probably damaging 1.00
R7240:Cd300c UTSW 11 114,850,609 (GRCm39) missense possibly damaging 0.93
R9087:Cd300c UTSW 11 114,850,591 (GRCm39) missense probably damaging 1.00
R9471:Cd300c UTSW 11 114,847,216 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTCAACCTTGAAGGACTTATCG -3'
(R):5'- CTGACGCAAGGGAAGACTTC -3'

Sequencing Primer
(F):5'- AGGACTTATCGATCTGTAAGTAGGC -3'
(R):5'- CAGTGTGTCCTGTCAGTA -3'
Posted On 2015-01-23