Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01767:Treml2'

153346

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

Essential gene?

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

Stock #

IGL01767

Quality Score

Status

Chromosome

Chromosomal Location

48300038-48312534 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48302810 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 90 (V90A)

Ref Sequence

ENSEMBL: ENSMUSP00000128215 (fasta)

Gene Model

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

AlphaFold

Q2LA85

Predicted Effect

probably benign
Transcript: ENSMUST00000170941
AA Change: V90A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128215
Gene: ENSMUSG00000071068
AA Change: V90A

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,041,363	V4505A	probably benign	Het
Aadat	A	T	8: 60,507,092	D31V	probably damaging	Het
Acaca	A	T	11: 84,320,542	Y1560F	probably benign	Het
Actl7a	A	G	4: 56,743,980	E169G	probably damaging	Het
Adgrb3	A	G	1: 25,559,814	V270A	probably benign	Het
Adgre4	G	A	17: 55,797,740	V269I	probably benign	Het
Ankhd1	A	G	18: 36,648,374	T2160A	probably damaging	Het
Bnip2	T	A	9: 70,002,116		probably benign	Het
Casp16-ps	A	G	17: 23,552,053	V126A	probably damaging	Het
Ccser1	C	A	6: 61,718,152	T157K	probably benign	Het
Cdh23	A	G	10: 60,315,724	S2459P	probably damaging	Het
Cdk5rap3	A	T	11: 96,913,465	C21S	probably damaging	Het
Chmp6	G	A	11: 119,916,986	E72K	probably benign	Het
Cldn23	T	C	8: 35,825,662	Y224C	probably damaging	Het
Cry1	C	T	10: 85,146,474	G336D	probably damaging	Het
Cyp4f17	T	A	17: 32,506,982	F30I	probably benign	Het
Dgcr8	T	A	16: 18,278,336	D496V	probably damaging	Het
Dhx9	A	G	1: 153,468,868		probably benign	Het
Dnah10	C	T	5: 124,743,737		probably benign	Het
Dock9	T	C	14: 121,622,870	E880G	possibly damaging	Het
Dscam	A	G	16: 96,654,936	V1264A	probably damaging	Het
Eno1	T	C	4: 150,246,710	Y270H	probably benign	Het
Eprs	A	G	1: 185,384,915	D385G	probably damaging	Het
Ercc2	A	G	7: 19,390,421	Y215C	probably damaging	Het
Fam208b	G	A	13: 3,576,633	P1106S	probably benign	Het
Fscn2	A	G	11: 120,367,750	N400S	possibly damaging	Het
Fuca1	C	T	4: 135,939,201	T449I	probably benign	Het
Gm43638	T	C	5: 87,465,431	K492E	probably damaging	Het
Gm4778	T	A	3: 94,266,484	D262E	probably benign	Het
Gm5263	T	G	1: 146,420,564		noncoding transcript	Het
Gm8122	T	C	14: 43,232,701	T111A	unknown	Het
Gtf3c2	T	A	5: 31,157,635	N923Y	probably benign	Het
Il17a	T	A	1: 20,733,640	D86E	probably benign	Het
Itgb2l	G	T	16: 96,430,575	N330K	probably benign	Het
Kcnj11	T	C	7: 46,099,065	H278R	probably benign	Het
Khdrbs2	T	A	1: 32,619,176	Y272*	probably null	Het
Kndc1	A	T	7: 139,930,046	Q1267L	probably damaging	Het
Loxhd1	T	A	18: 77,286,424	F64I	possibly damaging	Het
Lrig2	T	A	3: 104,491,545	K222N	probably benign	Het
Lrrcc1	T	A	3: 14,547,272	Y378N	probably damaging	Het
Mblac2	T	C	13: 81,750,315	L270P	probably damaging	Het
Med13	A	T	11: 86,319,783	I511N	probably benign	Het
Myo3a	A	T	2: 22,423,222	E763D	probably damaging	Het
Olfr1240	C	T	2: 89,439,800	V160I	probably benign	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr1447	T	A	19: 12,901,748	T11S	probably benign	Het
Olfr384	T	A	11: 73,603,032	F151I	probably benign	Het
Olfr845	G	A	9: 19,339,302	V281I	possibly damaging	Het
Plxna4	T	A	6: 32,237,678	I623F	possibly damaging	Het
Ppp2ca	T	A	11: 52,118,055	Y127*	probably null	Het
Psg18	A	G	7: 18,353,397	V112A	possibly damaging	Het
Ptprj	A	T	2: 90,469,574	N108K	probably benign	Het
Rictor	A	G	15: 6,777,384	Y707C	probably damaging	Het
Rptn	T	C	3: 93,395,639	F93S	probably benign	Het
Rxrg	T	A	1: 167,627,315	C156S	probably damaging	Het
Slc24a4	T	C	12: 102,223,687		probably benign	Het
Slc25a27	C	T	17: 43,664,073		probably null	Het
Slx4	T	C	16: 3,990,248	K481E	probably benign	Het
Snx19	T	C	9: 30,463,264	W940R	possibly damaging	Het
Tcf20	G	A	15: 82,856,008	P414L	probably damaging	Het
Uckl1	C	T	2: 181,569,534	V501M	probably damaging	Het
Unc79	C	T	12: 103,141,997	T1937I	probably damaging	Het
Vmn2r17	A	T	5: 109,420,037	I9F	probably benign	Het
Vmn2r44	T	C	7: 8,380,238	H119R	probably benign	Het
Vmn2r78	A	G	7: 86,954,435	D607G	probably benign	Het
Vps13a	C	T	19: 16,663,894	G2288D	probably damaging	Het
Znfx1	G	T	2: 167,055,723	T427N	probably damaging	Het

Other mutations in Treml2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02797:Treml2	APN	17	48302711	missense	possibly damaging	0.73
Cottonwood	UTSW	17	48302747	missense	possibly damaging	0.89
poplar	UTSW	17	48302734	nonsense	probably null
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	splice site	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
R7850:Treml2	UTSW	17	48308140	missense	probably benign	0.01
R8049:Treml2	UTSW	17	48302734	nonsense	probably null
R8998:Treml2	UTSW	17	48302747	missense	possibly damaging	0.89
R9012:Treml2	UTSW	17	48308062	missense	possibly damaging	0.86
R9208:Treml2	UTSW	17	48307894	nonsense	probably null

Posted On

2014-02-04