Incidental Mutation 'R8710:Cd300a'
ID 669521
Institutional Source Beutler Lab
Gene Symbol Cd300a
Ensembl Gene ENSMUSG00000034652
Gene Name CD300A molecule
Synonyms MAIR-I, LMIR1, B230315M08Rik, MMAC8, Clm8, Pigr4
MMRRC Submission 068564-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8710 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 114780006-114792772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114785501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 149 (T149A)
Ref Sequence ENSEMBL: ENSMUSP00000102192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045151] [ENSMUST00000106582]
AlphaFold Q6SJQ0
Predicted Effect probably benign
Transcript: ENSMUST00000045151
AA Change: T145A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000036773
Gene: ENSMUSG00000034652
AA Change: T145A

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: T149A

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102192
Gene: ENSMUSG00000034652
AA Change: T149A

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: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (68/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A G 5: 9,005,495 (GRCm39) N1126S probably damaging Het
Ablim2 C T 5: 36,030,518 (GRCm39) A581V possibly damaging Het
Agpat5 T A 8: 18,928,105 (GRCm39) D223E possibly damaging Het
Anks3 A C 16: 4,775,976 (GRCm39) Y75* probably null Het
Ano5 T G 7: 51,243,419 (GRCm39) D847E probably damaging Het
Asb6 G T 2: 30,717,072 (GRCm39) T51K probably benign Het
Bahcc1 A G 11: 120,174,953 (GRCm39) E1702G probably damaging Het
Bend7 A G 2: 4,767,925 (GRCm39) M294V probably benign Het
Cadm1 T A 9: 47,759,466 (GRCm39) D392E probably damaging Het
Camkmt T C 17: 85,421,277 (GRCm39) probably benign Het
Cd69 A T 6: 129,246,573 (GRCm39) W153R possibly damaging Het
Cdc25c T A 18: 34,882,666 (GRCm39) probably benign Het
Clnk A C 5: 38,931,940 (GRCm39) C40W possibly damaging Het
Cthrc1 T A 15: 38,947,821 (GRCm39) L180Q probably damaging Het
Cyld A G 8: 89,436,523 (GRCm39) N271S probably damaging Het
Dnah14 T C 1: 181,517,876 (GRCm39) I2070T probably benign Het
Dnah17 A C 11: 117,932,973 (GRCm39) L3595R probably damaging Het
Edrf1 A G 7: 133,245,495 (GRCm39) Y211C probably damaging Het
Efcab6 A G 15: 83,902,849 (GRCm39) I167T probably benign Het
Elavl3 A T 9: 21,937,849 (GRCm39) Y148N probably damaging Het
Ermardl2 A T 17: 15,209,194 (GRCm39) N342I probably damaging Het
Fam83c A G 2: 155,671,642 (GRCm39) S598P probably benign Het
Gm38119 ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA 3: 92,645,197 (GRCm39) probably benign Het
Helb A G 10: 119,941,872 (GRCm39) L272P probably damaging Het
Iars2 A C 1: 185,027,783 (GRCm39) V715G probably benign Het
Iqgap2 T G 13: 95,796,756 (GRCm39) N1133H probably benign Het
Kifc5b T A 17: 27,139,880 (GRCm39) M43K probably damaging Het
Krtap7-1 T A 16: 89,305,008 (GRCm39) Y48F possibly damaging Het
Lag3 G A 6: 124,885,408 (GRCm39) T324I probably damaging Het
Mapkapk2 C A 1: 130,986,448 (GRCm39) A97S possibly damaging Het
Mettl4 A G 17: 95,041,072 (GRCm39) S361P probably damaging Het
Myh4 A G 11: 67,143,158 (GRCm39) T1029A probably benign Het
Nsl1 C A 1: 190,795,420 (GRCm39) A62D probably benign Het
Oas1e T A 5: 120,930,027 (GRCm39) K164* probably null Het
Obsl1 A G 1: 75,469,326 (GRCm39) F1205S probably benign Het
Or14j2 G T 17: 37,885,540 (GRCm39) A258E probably benign Het
Or1e1b-ps1 G A 11: 73,845,694 (GRCm39) M59I possibly damaging Het
Or8c15 C T 9: 38,121,066 (GRCm39) A237V possibly damaging Het
Or8g18 T A 9: 39,149,306 (GRCm39) Y138F probably benign Het
Pald1 A G 10: 61,183,232 (GRCm39) F334S probably benign Het
Pikfyve A G 1: 65,255,155 (GRCm39) E325G possibly damaging Het
Plekha8 A G 6: 54,599,245 (GRCm39) T215A probably benign Het
Ptprq T C 10: 107,411,919 (GRCm39) R1816G possibly damaging Het
Ralgps1 G A 2: 33,035,433 (GRCm39) L472F probably damaging Het
Rasal1 A T 5: 120,801,002 (GRCm39) T221S probably benign Het
Rfx6 A G 10: 51,601,501 (GRCm39) T607A probably damaging Het
Rnf214 T A 9: 45,778,748 (GRCm39) probably benign Het
Rtca A T 3: 116,291,303 (GRCm39) Y226N probably benign Het
Sash1 T A 10: 8,656,285 (GRCm39) N236Y possibly damaging Het
Skint11 A G 4: 114,051,951 (GRCm39) I100V probably benign Het
Skint5 A T 4: 113,483,787 (GRCm39) S948R unknown Het
Slc25a13 A T 6: 6,114,238 (GRCm39) Y279N probably benign Het
Slc5a2 T C 7: 127,864,966 (GRCm39) L33P probably damaging Het
Slco1a5 A T 6: 142,198,828 (GRCm39) V279E probably benign Het
Ssh3 G T 19: 4,313,833 (GRCm39) H475Q probably benign Het
Tapt1 A G 5: 44,351,743 (GRCm39) S107P probably benign Het
Tjp2 T C 19: 24,072,796 (GRCm39) E1166G probably damaging Het
Tll1 A G 8: 64,577,940 (GRCm39) L89P possibly damaging Het
Tmc4 G T 7: 3,678,463 (GRCm39) T123N probably benign Het
Tmem139 A G 6: 42,241,021 (GRCm39) D202G probably damaging Het
Trim35 T C 14: 66,545,367 (GRCm39) S313P probably damaging Het
Ttc23l A G 15: 10,540,021 (GRCm39) I154T probably damaging Het
Ttc9c T C 19: 8,795,860 (GRCm39) T60A probably benign Het
Wdfy3 G T 5: 102,030,349 (GRCm39) N2386K probably damaging Het
Wdpcp C A 11: 21,610,924 (GRCm39) Q49K probably benign Het
Xrn1 A T 9: 95,884,285 (GRCm39) Y867F Het
Zfp423 C T 8: 88,507,549 (GRCm39) E932K possibly damaging Het
Zfp592 T C 7: 80,673,321 (GRCm39) F95S probably damaging Het
Zfp644 T G 5: 106,782,997 (GRCm39) N1095H probably damaging Het
Zfp983 A T 17: 21,880,234 (GRCm39) N54I probably 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
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
R7859:Cd300a UTSW 11 114,784,165 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- TTGGTGCGAAATCAGCTCAAAAC -3'
(R):5'- TCACACTTCTGGTAGCCCTG -3'

Sequencing Primer
(F):5'- CTGAGATCTTAGCACTCAGGAGGTG -3'
(R):5'- GGTAGCCCTGCCCTTCTCTTAAG -3'
Posted On 2021-04-30