Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02797:Treml2'

359985

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Treml2

Ensembl Gene

ENSMUSG00000071068

Gene Name

triggering receptor expressed on myeloid cells-like 2

Synonyms

LOC328833

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL02797

Quality Score

Status

Chromosome

Chromosomal Location

48300038-48312534 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 48302711 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 57 (A57V)

Ref Sequence

ENSEMBL: ENSMUSP00000128215 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170941]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170941
AA Change: A57V

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000128215
Gene: ENSMUSG00000071068
AA Change: A57V

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	31	129	3.13e-5	SMART
low complexity region	181	199	N/A	INTRINSIC
transmembrane domain	268	290	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TREML2 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,368,464	M924T	probably benign	Het
B3gat2	A	G	1: 23,815,279	Y218C	probably damaging	Het
Bcs1l	T	C	1: 74,590,461		probably null	Het
C77080	C	T	4: 129,223,311	R565H	probably damaging	Het
Cd109	T	A	9: 78,661,713	I358N	probably damaging	Het
Cd276	T	C	9: 58,537,436	D84G	possibly damaging	Het
Chsy1	T	C	7: 66,171,664	F549S	probably damaging	Het
Clca2	T	C	3: 145,081,263	N549S	probably benign	Het
Cma1	A	G	14: 55,943,814	S32P	possibly damaging	Het
Col23a1	G	A	11: 51,561,916		probably null	Het
Ctps	A	T	4: 120,562,824	I131K	probably benign	Het
Cyp2w1	T	C	5: 139,356,873	L441P	probably damaging	Het
Dnajc21	A	G	15: 10,461,355	Y170H	probably damaging	Het
Eif3a	A	T	19: 60,772,726	L648Q	probably damaging	Het
Eif3l	T	A	15: 79,075,277	D6E	probably benign	Het
Fam228a	A	T	12: 4,731,484	L125Q	probably damaging	Het
Foxa2	A	G	2: 148,044,125	C263R	possibly damaging	Het
Gm17455	A	G	10: 60,403,328	E124G	possibly damaging	Het
Gm8882	T	A	6: 132,363,045		probably null	Het
Gpc6	T	G	14: 116,925,982	L16R	probably damaging	Het
Hdac9	A	G	12: 34,393,274		probably benign	Het
Herc3	A	G	6: 58,868,694	N400S	probably benign	Het
Herc4	G	A	10: 63,316,807		probably null	Het
Il12b	A	G	11: 44,410,353		probably null	Het
Lama4	A	G	10: 39,056,924	R599G	probably null	Het
Lrp1b	T	A	2: 41,671,057	E286V		Het
Mink1	C	T	11: 70,610,350	P784S	probably damaging	Het
Musk	T	C	4: 58,366,921	F513S	probably benign	Het
Nfasc	T	A	1: 132,610,448	D474V	probably damaging	Het
Nos2	T	G	11: 78,940,344	F420V	probably damaging	Het
Olfr597	A	T	7: 103,320,851	I147L	probably benign	Het
Pcdhb14	A	G	18: 37,449,851	Y670C	probably damaging	Het
Polr1b	A	G	2: 129,102,979	E65G	probably damaging	Het
Ppp1r10	T	G	17: 35,928,012		probably null	Het
Prag1	C	T	8: 36,139,501	R799C	probably damaging	Het
Ptch1	T	C	13: 63,533,607	N485S	probably benign	Het
Rgsl1	T	C	1: 153,807,708	T19A	probably damaging	Het
Sgpl1	A	C	10: 61,101,728	S507A	probably benign	Het
Sgpp2	A	G	1: 78,417,182	D274G	probably benign	Het
Skap1	A	G	11: 96,713,017	D211G	possibly damaging	Het
Smc3	A	G	19: 53,638,758	T830A	probably benign	Het
Smpd2	G	A	10: 41,488,078	T215I	possibly damaging	Het
Sntg2	T	G	12: 30,226,892	Y387S	possibly damaging	Het
Sorl1	T	G	9: 42,037,059	D810A	probably damaging	Het
Spata5	A	G	3: 37,458,316		probably benign	Het
Spop	T	A	11: 95,482,083	I217N	probably damaging	Het
Stac2	T	C	11: 98,043,519	R120G	possibly damaging	Het
Stau1	A	T	2: 166,949,346	*496R	probably null	Het
Tmeff2	C	T	1: 50,928,047	R34C	probably damaging	Het
Vmn2r15	T	C	5: 109,297,384	D58G	probably benign	Het
Vmn2r7	T	C	3: 64,691,245	I721M	possibly damaging	Het
Vmn2r70	C	A	7: 85,559,087	M727I	probably benign	Het
Vwa8	T	A	14: 78,925,262	C161S	probably benign	Het

Other mutations in Treml2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01767:Treml2	APN	17	48302810	missense	probably benign
R0105:Treml2	UTSW	17	48302828	missense	probably damaging	0.99
R0105:Treml2	UTSW	17	48302828	missense	probably damaging	0.99
R0670:Treml2	UTSW	17	48307836	intron	probably null
R1538:Treml2	UTSW	17	48302758	missense	possibly damaging	0.77
R1796:Treml2	UTSW	17	48309502	makesense	probably null
R4396:Treml2	UTSW	17	48308114	missense	probably benign	0.00
R4679:Treml2	UTSW	17	48308175	missense	probably benign	0.36
R4687:Treml2	UTSW	17	48309397	splice site	probably null
R4801:Treml2	UTSW	17	48309159	missense	probably benign	0.18
R4802:Treml2	UTSW	17	48309159	missense	probably benign	0.18
R5314:Treml2	UTSW	17	48300573	missense	probably damaging	0.99
R6791:Treml2	UTSW	17	48309219	missense	probably benign	0.24
R6818:Treml2	UTSW	17	48302897	missense	probably damaging	1.00
R6958:Treml2	UTSW	17	48308152	missense	probably damaging	1.00
R7250:Treml2	UTSW	17	48309127	missense	probably benign	0.05
R7535:Treml2	UTSW	17	48302819	missense	probably damaging	1.00

Posted On

2015-12-18