Mutagenetix > Incidental Mutation

Incidental Mutation 'R5116:Trem3'

394220

Institutional Source

Beutler Lab

Gene Symbol

Trem3

Ensembl Gene

ENSMUSG00000041754

Gene Name

triggering receptor expressed on myeloid cells 3

Synonyms

MMRRC Submission

042704-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5116 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

48554805-48565869 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48556580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 17 (L17P)

Ref Sequence

ENSEMBL: ENSMUSP00000044478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048065] [ENSMUST00000048782] [ENSMUST00000113251]

AlphaFold

Q9JKE1

Predicted Effect

probably benign
Transcript: ENSMUST00000048065
AA Change: L17P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000044478
Gene: ENSMUSG00000041754
AA Change: L17P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	23	139	1.18e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000048782

SMART Domains

Protein: ENSMUSP00000038636
Gene: ENSMUSG00000042265

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IG	26	134	1.25e-4	SMART
low complexity region	159	170	N/A	INTRINSIC
transmembrane domain	202	224	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113251

SMART Domains

Protein: ENSMUSP00000108877
Gene: ENSMUSG00000042265

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	40	51	N/A	INTRINSIC
transmembrane domain	83	105	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.5%

Validation Efficiency

97% (59/61)

MGI Phenotype

FUNCTION: The protein encoded by this gene is part of the immunoglobulin and lectin-like superfamily and is thought to function as part of the innate immune system. This gene forms part of a cluster of genes on mouse chromosome 17 thought to be involved in innate immunity. This protein has been reported to associate with the adaptor protein Dap-12 to form a receptor signaling complex that activates myeloid cells. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele of Trem1 and Trem3 exhibit increased susceptibility to P. aeruginosa infection with reduced neutrophil transepithelial migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,216,930 (GRCm39)	H429R	probably damaging	Het
Adam39	G	T	8: 41,278,038 (GRCm39)	C143F	probably damaging	Het
Adamts19	T	C	18: 59,036,066 (GRCm39)	V417A	possibly damaging	Het
Adcy10	C	A	1: 165,347,069 (GRCm39)	A362E	probably damaging	Het
Akap6	A	G	12: 53,188,298 (GRCm39)	E1904G	probably benign	Het
Aldh18a1	A	G	19: 40,541,949 (GRCm39)	M89T	probably benign	Het
Alyref	G	T	11: 120,488,554 (GRCm39)	F91L	probably benign	Het
Capn3	G	T	2: 120,315,773 (GRCm39)	M248I	probably benign	Het
Catsper4	A	T	4: 133,953,991 (GRCm39)	I56N	probably damaging	Het
Cckbr	T	A	7: 105,082,862 (GRCm39)	I75N	probably damaging	Het
Ccr8	T	C	9: 119,923,095 (GRCm39)	I70T	probably benign	Het
Cdh24	T	C	14: 54,873,870 (GRCm39)	D428G	probably benign	Het
Cdk5rap2	G	T	4: 70,225,475 (GRCm39)	Q557K	possibly damaging	Het
Clip1	C	T	5: 123,768,770 (GRCm39)	A610T	probably benign	Het
Dnajc16	A	T	4: 141,495,280 (GRCm39)	Y479*	probably null	Het
Fpr-rs3	A	G	17: 20,844,562 (GRCm39)	V193A	probably benign	Het
Gm29125	T	C	1: 80,361,690 (GRCm39)		noncoding transcript	Het
H1f4	A	G	13: 23,806,270 (GRCm39)	Y71H	probably damaging	Het
Ifi208	A	G	1: 173,505,549 (GRCm39)		probably benign	Het
Immp1l	G	A	2: 105,795,640 (GRCm39)	R155H	probably benign	Het
Itgad	C	A	7: 127,803,065 (GRCm39)	T7K	probably damaging	Het
Itgb3	T	C	11: 104,531,903 (GRCm39)	V370A	probably benign	Het
Jak1	A	G	4: 101,012,310 (GRCm39)	I1053T	probably benign	Het
Kif21b	A	G	1: 136,080,521 (GRCm39)	R572G	probably damaging	Het
Lama2	A	T	10: 26,994,556 (GRCm39)	D1784E	probably benign	Het
Ltbp2	A	T	12: 84,856,511 (GRCm39)	V651D	probably damaging	Het
Mrpl47	A	G	3: 32,787,750 (GRCm39)	L100S	probably damaging	Het
Mx1	T	G	16: 97,258,679 (GRCm39)	N6T	possibly damaging	Het
Nde1	T	A	16: 14,001,351 (GRCm39)	M133K	probably benign	Het
Nlrc5	T	C	8: 95,208,488 (GRCm39)	L778P	probably damaging	Het
Odad3	A	G	9: 21,901,424 (GRCm39)	*595Q	probably null	Het
Or52e19b	G	A	7: 103,033,071 (GRCm39)	T46I	probably benign	Het
Or5l13	G	A	2: 87,779,873 (GRCm39)	R235C	probably benign	Het
Or6c3b	A	G	10: 129,527,266 (GRCm39)	S215P	probably damaging	Het
Or7g32	A	G	9: 19,389,094 (GRCm39)	S151P	possibly damaging	Het
Or8b38	T	C	9: 37,972,634 (GRCm39)	V6A	probably benign	Het
Otog	T	C	7: 45,923,191 (GRCm39)	V1022A	probably benign	Het
Pcdhac1	G	A	18: 37,224,500 (GRCm39)	V438M	probably damaging	Het
Pcsk5	G	A	19: 17,440,798 (GRCm39)	S1264F	possibly damaging	Het
Pfas	T	C	11: 68,881,816 (GRCm39)		probably benign	Het
Pigr	T	A	1: 130,776,768 (GRCm39)	F648I	probably benign	Het
Pla2r1	A	C	2: 60,279,250 (GRCm39)	Y777D	probably damaging	Het
Pnpla7	G	T	2: 24,911,982 (GRCm39)	G716V	probably damaging	Het
Rab11fip5	C	T	6: 85,325,789 (GRCm39)	E206K	probably damaging	Het
S100a10	A	G	3: 93,468,247 (GRCm39)		probably null	Het
Slc35f1	T	C	10: 52,897,991 (GRCm39)	I134T	probably benign	Het
Smarcd1	C	T	15: 99,600,369 (GRCm39)	A56V	probably benign	Het
Snrk	A	G	9: 121,989,396 (GRCm39)	T247A	probably benign	Het
Srgap1	A	G	10: 121,628,284 (GRCm39)	L896P	possibly damaging	Het
Tmem19	A	T	10: 115,179,651 (GRCm39)	F167I	probably benign	Het
Tmprss11f	T	C	5: 86,687,555 (GRCm39)	S118G	probably benign	Het
Tnc	A	G	4: 63,885,452 (GRCm39)		probably null	Het
Upp2	A	G	2: 58,661,554 (GRCm39)	Y67C	probably damaging	Het
Zfp276	A	G	8: 123,991,716 (GRCm39)		probably benign	Het
Zfp932	T	A	5: 110,157,242 (GRCm39)	D280E	probably benign	Het

Other mutations in Trem3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Trem3	APN	17	48,556,829 (GRCm39)	missense	probably damaging	1.00
IGL01414:Trem3	APN	17	48,556,843 (GRCm39)	missense	probably benign
IGL01951:Trem3	APN	17	48,556,903 (GRCm39)	missense	probably damaging	1.00
IGL01963:Trem3	APN	17	48,554,880 (GRCm39)	missense	possibly damaging	0.73
IGL02477:Trem3	APN	17	48,556,864 (GRCm39)	missense	probably benign
R2850:Trem3	UTSW	17	48,556,669 (GRCm39)	missense	probably benign	0.06
R3687:Trem3	UTSW	17	48,564,955 (GRCm39)	missense	probably damaging	0.98
R4360:Trem3	UTSW	17	48,556,801 (GRCm39)	missense	probably benign	0.43
R4581:Trem3	UTSW	17	48,556,639 (GRCm39)	missense	possibly damaging	0.92
R5137:Trem3	UTSW	17	48,556,756 (GRCm39)	missense	possibly damaging	0.93
R5894:Trem3	UTSW	17	48,565,483 (GRCm39)	missense	probably benign
R7074:Trem3	UTSW	17	48,556,909 (GRCm39)	missense	probably damaging	1.00
R7438:Trem3	UTSW	17	48,565,498 (GRCm39)	makesense	probably null
R7472:Trem3	UTSW	17	48,556,873 (GRCm39)	missense	probably benign	0.05
R7491:Trem3	UTSW	17	48,564,969 (GRCm39)	missense	probably benign	0.28
R8829:Trem3	UTSW	17	48,556,865 (GRCm39)	missense	probably benign	0.08
R8832:Trem3	UTSW	17	48,556,865 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TGAGTCTTCCCTGCAAACAC -3'
(R):5'- ACGTTGAAGTCTGCCTTTCTG -3'

Sequencing Primer
(F):5'- AGATCCAATCACCTGTTCTGG -3'
(R):5'- CCTTTCTGGTGTTTGTGAGCAC -3'

Posted On

2016-06-15