Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4472001:Cd300e'

555875

Institutional Source

Beutler Lab

Gene Symbol

Cd300e

Ensembl Gene

ENSMUSG00000048498

Gene Name

CD300E molecule

Synonyms

Trem5, Cd300le, Clm2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4472001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114942743-114953003 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114945336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 153 (I153F)

Ref Sequence

ENSEMBL: ENSMUSP00000054883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062787]

AlphaFold

Q8K249

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062787
AA Change: I153F

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054883
Gene: ENSMUSG00000048498
AA Change: I153F

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IG	21	128	6.26e-5	SMART
low complexity region	129	144	N/A	INTRINSIC
transmembrane domain	171	193	N/A	INTRINSIC

Coding Region Coverage

1x: 93.7%
3x: 90.8%
10x: 84.2%
20x: 70.1%

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 expressed on myeloid cells. The protein interacts with the TYRO protein tyrosine kinase-binding protein and is thought to act as an activating receptor. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	C	A	9: 99,502,613 (GRCm39)	P258T	probably damaging	Het
Arvcf	T	C	16: 18,221,699 (GRCm39)	V714A	possibly damaging	Het
Bcas3	A	G	11: 85,422,726 (GRCm39)	I532V	probably damaging	Het
Cbr1	T	A	16: 93,406,692 (GRCm39)	V136E	probably damaging	Het
Ccdc27	T	C	4: 154,126,184 (GRCm39)	M102V	unknown	Het
Ccr1	T	C	9: 123,763,765 (GRCm39)	Y255C	probably damaging	Het
Chd7	C	T	4: 8,753,101 (GRCm39)	L533F	unknown	Het
Cpvl	A	T	6: 53,873,464 (GRCm39)	F424Y	possibly damaging	Het
Cxcl16	C	T	11: 70,349,625 (GRCm39)	G80R	probably damaging	Het
Cyp2g1	T	C	7: 26,513,619 (GRCm39)	V186A	probably benign	Het
Cyp4f15	T	A	17: 32,921,798 (GRCm39)	M490K	probably damaging	Het
D630045J12Rik	A	T	6: 38,155,774 (GRCm39)	V1160D	probably damaging	Het
Dennd2b	G	A	7: 109,130,337 (GRCm39)	A888V	probably damaging	Het
Fbn1	T	C	2: 125,148,421 (GRCm39)	D2609G	possibly damaging	Het
Fgf5	T	A	5: 98,409,838 (GRCm39)	V129E	probably damaging	Het
Fhl5	C	A	4: 25,211,194 (GRCm39)	C166F	probably damaging	Het
Frem1	G	A	4: 82,890,374 (GRCm39)	T1035I	probably benign	Het
Gcnt2	G	A	13: 41,071,413 (GRCm39)	V19M	probably benign	Het
Gga1	C	A	15: 78,777,836 (GRCm39)	A595D	probably damaging	Het
Gpaa1	C	T	15: 76,218,940 (GRCm39)	T594I	probably benign	Het
Gskip	C	T	12: 105,651,121 (GRCm39)		probably benign	Het
Ighv1-72	A	G	12: 115,721,620 (GRCm39)	V112A	probably damaging	Het
Krt16	T	A	11: 100,138,732 (GRCm39)	T185S	probably benign	Het
Lama1	T	C	17: 68,071,699 (GRCm39)	V862A		Het
Lats2	A	C	14: 57,936,814 (GRCm39)	Y558*	probably null	Het
Mast4	G	A	13: 102,941,226 (GRCm39)	T277M	probably damaging	Het
Mnx1	T	C	5: 29,679,105 (GRCm39)	E326G	unknown	Het
Mtmr10	A	G	7: 63,983,106 (GRCm39)	E471G	probably benign	Het
Or5p64	C	T	7: 107,855,310 (GRCm39)	V12M	possibly damaging	Het
Otog	G	A	7: 45,945,273 (GRCm39)	V2177M	probably damaging	Het
Ovgp1	A	G	3: 105,894,306 (GRCm39)	E693G	unknown	Het
Pclo	T	C	5: 14,763,182 (GRCm39)	M600T	possibly damaging	Het
Pdgfra	T	A	5: 75,340,907 (GRCm39)	M622K	probably damaging	Het
Pdxdc1	A	G	16: 13,663,209 (GRCm39)	L428P	probably damaging	Het
Pfkfb4	T	C	9: 108,828,222 (GRCm39)	Y86H	probably benign	Het
Pik3cg	A	G	12: 32,254,983 (GRCm39)	Y335H	probably damaging	Het
Podnl1	G	A	8: 84,854,477 (GRCm39)	V150M		Het
Pou4f3	A	G	18: 42,527,717 (GRCm39)	M4V	probably benign	Het
Ppp1r13b	G	A	12: 111,799,074 (GRCm39)	R864C	probably damaging	Het
R3hdm4	A	G	10: 79,749,389 (GRCm39)		probably null	Het
Skil	T	A	3: 31,152,381 (GRCm39)	V301D	probably damaging	Het
Sptb	G	A	12: 76,667,460 (GRCm39)	T879M	probably damaging	Het
Strip1	G	A	3: 107,535,486 (GRCm39)	A79V	probably benign	Het
Tpgs2	G	A	18: 25,301,652 (GRCm39)	T5M	possibly damaging	Het
Trim34a	T	A	7: 103,897,155 (GRCm39)	L73Q	probably damaging	Het
Trpv4	T	A	5: 114,764,984 (GRCm39)	T677S	probably damaging	Het
Vmn2r23	A	G	6: 123,689,936 (GRCm39)	T271A	possibly damaging	Het

Other mutations in Cd300e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3158_Cd300e_594	UTSW	11	114,952,849 (GRCm39)	start codon destroyed	probably null
R1234:Cd300e	UTSW	11	114,946,192 (GRCm39)	missense	probably damaging	0.96
R1772:Cd300e	UTSW	11	114,945,344 (GRCm39)	missense	probably benign	0.21
R3157:Cd300e	UTSW	11	114,952,849 (GRCm39)	start codon destroyed	probably null
R3158:Cd300e	UTSW	11	114,952,849 (GRCm39)	start codon destroyed	probably null
R6191:Cd300e	UTSW	11	114,945,359 (GRCm39)	missense	possibly damaging	0.92
R6283:Cd300e	UTSW	11	114,945,380 (GRCm39)	missense	probably benign	0.04
R7406:Cd300e	UTSW	11	114,946,128 (GRCm39)	missense	probably damaging	1.00
R8994:Cd300e	UTSW	11	114,946,348 (GRCm39)	missense	probably damaging	1.00
R9407:Cd300e	UTSW	11	114,946,171 (GRCm39)	missense	probably damaging	1.00
X0060:Cd300e	UTSW	11	114,946,318 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGCAGGATGTGAAAACTGAG -3'
(R):5'- CCTGATTCAGCCTTTGAGAGC -3'

Sequencing Primer
(F):5'- TGTGAAAACTGAGATCGGGGTG -3'
(R):5'- ATTCAGCCTTTGAGAGCCCCAC -3'

Posted On

2019-06-07