Incidental Mutation 'R2926:Cd300a'
ID 255773
Institutional Source Beutler Lab
Gene Symbol Cd300a
Ensembl Gene ENSMUSG00000034652
Gene Name CD300A molecule
Synonyms MAIR-I, LMIR1, B230315M08Rik, MMAC8, Clm8, Pigr4
MMRRC Submission 040511-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2926 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 114780006-114792772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114784139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 49 (E49G)
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: E49G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036773
Gene: ENSMUSG00000034652
AA Change: E49G

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 possibly damaging
Transcript: ENSMUST00000106582
AA Change: E49G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102192
Gene: ENSMUSG00000034652
AA Change: E49G

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
IG 31 137 3.49e-3 SMART
Pfam:SIT 186 289 1.2e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153245
Meta Mutation Damage Score 0.4149 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (50/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 G T 5: 124,216,902 (GRCm39) S438R possibly damaging Het
Add3 A G 19: 53,215,253 (GRCm39) probably null Het
Adgrb2 T C 4: 129,902,137 (GRCm39) L506P probably damaging Het
Atp6v0a1 A T 11: 100,934,774 (GRCm39) I621L probably damaging Het
Calb1 T G 4: 15,904,302 (GRCm39) L218R probably damaging Het
Ccdc162 G A 10: 41,437,203 (GRCm39) probably benign Het
Ccser2 A T 14: 36,601,518 (GRCm39) S842T possibly damaging Het
Colec11 T A 12: 28,667,428 (GRCm39) Q37L probably damaging Het
D630045J12Rik T A 6: 38,145,106 (GRCm39) I1307F probably damaging Het
Dapk1 T C 13: 60,867,564 (GRCm39) V257A possibly damaging Het
Dnah3 T A 7: 119,550,338 (GRCm39) N3327I probably damaging Het
Gja8 C T 3: 96,826,469 (GRCm39) V398I probably benign Het
Hfm1 A T 5: 107,022,148 (GRCm39) L179* probably null Het
Hsd3b9 A G 3: 98,357,872 (GRCm39) probably benign Het
Ift88 T C 14: 57,726,375 (GRCm39) Y678H probably damaging Het
Itga10 A G 3: 96,560,165 (GRCm39) N560D probably damaging Het
Itpk1 G T 12: 102,545,389 (GRCm39) P238Q probably damaging Het
Kl T C 5: 150,876,806 (GRCm39) W209R probably damaging Het
Lama4 A G 10: 38,954,828 (GRCm39) N1127S probably benign Het
Lrp1 C T 10: 127,423,982 (GRCm39) C830Y probably damaging Het
Mcmbp G A 7: 128,299,738 (GRCm39) probably benign Het
Mrps33 A G 6: 39,782,438 (GRCm39) S28P probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Myt1 C T 2: 181,467,803 (GRCm39) T1079M possibly damaging Het
N4bp1 A T 8: 87,588,424 (GRCm39) Y171* probably null Het
Ncln G T 10: 81,324,272 (GRCm39) T442K probably benign Het
Nphp4 T C 4: 152,602,596 (GRCm39) V390A probably damaging Het
Ntrk2 C A 13: 59,208,098 (GRCm39) T648K probably damaging Het
Nwd1 A G 8: 73,393,640 (GRCm39) H301R probably damaging Het
Or4k5 A T 14: 50,385,893 (GRCm39) V146E probably benign Het
Pcdh12 T C 18: 38,415,443 (GRCm39) N561D probably damaging Het
Pcnx1 T A 12: 82,041,769 (GRCm39) S2134T probably damaging Het
Ppp1cc G A 5: 122,312,151 (GRCm39) A306T probably benign Het
Pramel3e G T X: 134,400,297 (GRCm39) A96S possibly damaging Het
Prrc2c C T 1: 162,533,696 (GRCm39) probably benign Het
Rabggta C T 14: 55,956,747 (GRCm39) R319H probably benign Het
Scn10a A C 9: 119,467,767 (GRCm39) F791C possibly damaging Het
Stab1 T A 14: 30,883,756 (GRCm39) D267V probably damaging Het
Sva A T 6: 42,019,596 (GRCm39) Y152F possibly damaging Het
Tgfbrap1 T G 1: 43,114,789 (GRCm39) M104L probably damaging Het
Tmed4 T C 11: 6,221,728 (GRCm39) T203A probably benign Het
Toe1 C T 4: 116,662,177 (GRCm39) A331T possibly damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trpm7 T C 2: 126,700,329 (GRCm39) probably benign Het
Ttll7 C T 3: 146,636,170 (GRCm39) R438* probably null Het
Usp11 G T X: 20,584,031 (GRCm39) G601W probably damaging Het
Vmn2r112 A G 17: 22,833,984 (GRCm39) T551A possibly damaging Het
Vmn2r73 T C 7: 85,520,871 (GRCm39) K366E probably benign Het
Vps33a A G 5: 123,707,634 (GRCm39) I111T possibly damaging 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
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
R7859:Cd300a UTSW 11 114,784,165 (GRCm39) missense probably benign 0.08
R8710:Cd300a UTSW 11 114,785,501 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- TCAGAGGGACTGGGAAGATTCC -3'
(R):5'- TAGGTGTCTGCATCCTCCAG -3'

Sequencing Primer
(F):5'- TTCCGGGTGAAGGATGGAGC -3'
(R):5'- TCCAGGGTGAGGCTCTCATAG -3'
Posted On 2014-12-29