Incidental Mutation 'R7859:Cd300a'
ID 607373
Institutional Source Beutler Lab
Gene Symbol Cd300a
Ensembl Gene ENSMUSG00000034652
Gene Name CD300A molecule
Synonyms MAIR-I, LMIR1, B230315M08Rik, MMAC8, Clm8, Pigr4
MMRRC Submission 045912-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7859 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 114780006-114792772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114784165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 58 (Y58H)
Ref Sequence ENSEMBL: ENSMUSP00000102192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045151] [ENSMUST00000106582]
AlphaFold Q6SJQ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000045151
AA Change: Y58H

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036773
Gene: ENSMUSG00000034652
AA Change: Y58H

DomainStartEndE-ValueType
low complexity region 10 28 N/A INTRINSIC
IG 31 137 3.49e-3 SMART
transmembrane domain 180 202 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106582
AA Change: Y58H

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000102192
Gene: ENSMUSG00000034652
AA Change: Y58H

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
IG 31 137 3.49e-3 SMART
Pfam:SIT 186 289 1.2e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CD300 glycoprotein family of cell surface proteins found on leukocytes involved in immune response signaling pathways. This gene is located on chromosome 17 in a cluster with all but one of the other family members. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased susceptibility to cecal ligation and puncture with increased production of chemoattractants by mast cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,603,500 (GRCm39) L564P probably damaging Het
Arsb T A 13: 93,998,615 (GRCm39) S308T probably benign Het
Atxn10 A G 15: 85,346,526 (GRCm39) D428G probably benign Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Cemip2 T A 19: 21,809,539 (GRCm39) I973N possibly damaging Het
Crkl T A 16: 17,286,960 (GRCm39) M172K probably damaging Het
Cyfip1 T C 7: 55,549,774 (GRCm39) I647T probably damaging Het
Dlgap1 A G 17: 70,823,683 (GRCm39) T223A probably benign Het
Dmtf1 T C 5: 9,178,044 (GRCm39) S372G probably damaging Het
Dock8 G A 19: 25,160,934 (GRCm39) V1814M probably damaging Het
Dusp22 A C 13: 30,892,737 (GRCm39) K171N probably benign Het
Evi2a T C 11: 79,418,452 (GRCm39) S53G probably benign Het
Ipcef1 T A 10: 6,840,569 (GRCm39) D376V probably damaging Het
Kndc1 A T 7: 139,500,880 (GRCm39) D723V possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Mcur1 G A 13: 43,713,485 (GRCm39) R40* probably null Het
Mgam T A 6: 40,717,113 (GRCm39) N265K possibly damaging Het
Muc6 G A 7: 141,231,687 (GRCm39) T1069I probably damaging Het
Myh2 T C 11: 67,077,526 (GRCm39) L887P probably damaging Het
Myo1d T G 11: 80,575,203 (GRCm39) D171A probably damaging Het
Nat2 T A 8: 67,954,002 (GRCm39) F37L probably damaging Het
Nkx2-2 A G 2: 147,019,730 (GRCm39) C236R unknown Het
Nrl G A 14: 55,759,582 (GRCm39) S115L probably benign Het
Nrsn1 A C 13: 25,446,254 (GRCm39) S41A probably damaging Het
Or5b12 T A 19: 12,897,346 (GRCm39) E109V probably damaging Het
Pax8 T A 2: 24,311,567 (GRCm39) H456L possibly damaging Het
Pkd1 T A 17: 24,790,254 (GRCm39) I979K probably damaging Het
Prex2 A G 1: 11,150,274 (GRCm39) N149D probably damaging Het
Psg28 A T 7: 18,160,149 (GRCm39) V349D probably damaging Het
Ptpro G A 6: 137,369,805 (GRCm39) probably null Het
Sema4d T A 13: 51,876,387 (GRCm39) K94N probably benign Het
Slc22a22 A T 15: 57,114,348 (GRCm39) D326E probably benign Het
Slc25a29 G A 12: 108,792,756 (GRCm39) T274I probably benign Het
Slc43a1 T C 2: 84,687,220 (GRCm39) F374L possibly damaging Het
Syne1 G T 10: 5,107,683 (GRCm39) Q520K possibly damaging Het
Taar4 T C 10: 23,837,032 (GRCm39) V214A probably benign Het
Tex22 T A 12: 113,052,103 (GRCm39) C54S possibly damaging Het
Tpo T A 12: 30,150,573 (GRCm39) I436F probably damaging Het
Usp53 T C 3: 122,743,415 (GRCm39) H507R possibly damaging Het
Usp54 T C 14: 20,638,204 (GRCm39) E255G probably benign Het
Vmn2r109 G T 17: 20,761,436 (GRCm39) F640L probably damaging Het
Vmn2r124 A G 17: 18,282,212 (GRCm39) Y80C probably damaging Het
Vmn2r27 A T 6: 124,201,201 (GRCm39) I252K probably benign Het
Zfp457 A G 13: 67,454,445 (GRCm39) probably benign Het
Other mutations in Cd300a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03358:Cd300a APN 11 114,788,623 (GRCm39) missense possibly damaging 0.67
R0193:Cd300a UTSW 11 114,784,202 (GRCm39) missense probably benign 0.22
R2926:Cd300a UTSW 11 114,784,139 (GRCm39) missense possibly damaging 0.92
R4913:Cd300a UTSW 11 114,784,198 (GRCm39) nonsense probably null
R4953:Cd300a UTSW 11 114,784,247 (GRCm39) missense probably damaging 0.98
R5253:Cd300a UTSW 11 114,785,577 (GRCm39) missense probably benign
R5341:Cd300a UTSW 11 114,784,288 (GRCm39) missense probably damaging 0.98
R7071:Cd300a UTSW 11 114,792,099 (GRCm39) missense probably damaging 0.98
R7357:Cd300a UTSW 11 114,784,153 (GRCm39) missense probably benign 0.00
R8710:Cd300a UTSW 11 114,785,501 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- ACATGAGGCCTTTGTGGGTC -3'
(R):5'- TATCCACCGCACACATGTAG -3'

Sequencing Primer
(F):5'- TCAGAGGGACTGGGAAGATTCC -3'
(R):5'- ACATGTAGGTGTCTGCATCC -3'
Posted On 2019-12-20