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: 0.054) question?

Stock #

IGL01767

Quality Score

Status

Chromosome

Chromosomal Location

48606526-48619561 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48609838 bp (GRCm39)

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
Aadat	A	T	8: 60,960,126 (GRCm39)	D31V	probably damaging	Het
Acaca	A	T	11: 84,211,368 (GRCm39)	Y1560F	probably benign	Het
Actl7a	A	G	4: 56,743,980 (GRCm39)	E169G	probably damaging	Het
Adgrb3	A	G	1: 25,598,895 (GRCm39)	V270A	probably benign	Het
Adgre4	G	A	17: 56,104,740 (GRCm39)	V269I	probably benign	Het
Ankhd1	A	G	18: 36,781,427 (GRCm39)	T2160A	probably damaging	Het
Bltp1	T	C	3: 37,095,512 (GRCm39)	V4505A	probably benign	Het
Bnip2	T	A	9: 69,909,398 (GRCm39)		probably benign	Het
Casp16	A	G	17: 23,771,027 (GRCm39)	V126A	probably damaging	Het
Ccser1	C	A	6: 61,695,136 (GRCm39)	T157K	probably benign	Het
Cdh23	A	G	10: 60,151,503 (GRCm39)	S2459P	probably damaging	Het
Cdk5rap3	A	T	11: 96,804,291 (GRCm39)	C21S	probably damaging	Het
Chmp6	G	A	11: 119,807,812 (GRCm39)	E72K	probably benign	Het
Cldn23	T	C	8: 36,292,816 (GRCm39)	Y224C	probably damaging	Het
Cry1	C	T	10: 84,982,338 (GRCm39)	G336D	probably damaging	Het
Cyp4f17	T	A	17: 32,725,956 (GRCm39)	F30I	probably benign	Het
Dgcr8	T	A	16: 18,096,200 (GRCm39)	D496V	probably damaging	Het
Dhx9	A	G	1: 153,344,614 (GRCm39)		probably benign	Het
Dnah10	C	T	5: 124,820,801 (GRCm39)		probably benign	Het
Dock9	T	C	14: 121,860,282 (GRCm39)	E880G	possibly damaging	Het
Dscam	A	G	16: 96,456,136 (GRCm39)	V1264A	probably damaging	Het
Eno1	T	C	4: 150,331,167 (GRCm39)	Y270H	probably benign	Het
Eprs1	A	G	1: 185,117,112 (GRCm39)	D385G	probably damaging	Het
Ercc2	A	G	7: 19,124,346 (GRCm39)	Y215C	probably damaging	Het
Fscn2	A	G	11: 120,258,576 (GRCm39)	N400S	possibly damaging	Het
Fuca1	C	T	4: 135,666,512 (GRCm39)	T449I	probably benign	Het
Gm43638	T	C	5: 87,613,290 (GRCm39)	K492E	probably damaging	Het
Gm5263	T	G	1: 146,296,302 (GRCm39)		noncoding transcript	Het
Gm8122	T	C	14: 43,090,158 (GRCm39)	T111A	unknown	Het
Gtf3c2	T	A	5: 31,314,979 (GRCm39)	N923Y	probably benign	Het
Il17a	T	A	1: 20,803,864 (GRCm39)	D86E	probably benign	Het
Itgb2l	G	T	16: 96,231,775 (GRCm39)	N330K	probably benign	Het
Kcnj11	T	C	7: 45,748,489 (GRCm39)	H278R	probably benign	Het
Khdrbs2	T	A	1: 32,658,257 (GRCm39)	Y272*	probably null	Het
Kndc1	A	T	7: 139,509,959 (GRCm39)	Q1267L	probably damaging	Het
Loxhd1	T	A	18: 77,374,120 (GRCm39)	F64I	possibly damaging	Het
Lrig2	T	A	3: 104,398,861 (GRCm39)	K222N	probably benign	Het
Lrrcc1	T	A	3: 14,612,332 (GRCm39)	Y378N	probably damaging	Het
Mblac2	T	C	13: 81,898,434 (GRCm39)	L270P	probably damaging	Het
Med13	A	T	11: 86,210,609 (GRCm39)	I511N	probably benign	Het
Myo3a	A	T	2: 22,428,033 (GRCm39)	E763D	probably damaging	Het
Or1e25	T	A	11: 73,493,858 (GRCm39)	F151I	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or4a68	C	T	2: 89,270,144 (GRCm39)	V160I	probably benign	Het
Or5b97	T	A	19: 12,879,112 (GRCm39)	T11S	probably benign	Het
Or7g27	G	A	9: 19,250,598 (GRCm39)	V281I	possibly damaging	Het
Plxna4	T	A	6: 32,214,613 (GRCm39)	I623F	possibly damaging	Het
Ppp2ca	T	A	11: 52,008,882 (GRCm39)	Y127*	probably null	Het
Psg18	A	G	7: 18,087,322 (GRCm39)	V112A	possibly damaging	Het
Ptprj	A	T	2: 90,299,918 (GRCm39)	N108K	probably benign	Het
Rictor	A	G	15: 6,806,865 (GRCm39)	Y707C	probably damaging	Het
Rptn	T	C	3: 93,302,946 (GRCm39)	F93S	probably benign	Het
Rxrg	T	A	1: 167,454,884 (GRCm39)	C156S	probably damaging	Het
Slc24a4	T	C	12: 102,189,946 (GRCm39)		probably benign	Het
Slc25a27	C	T	17: 43,974,964 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,808,112 (GRCm39)	K481E	probably benign	Het
Snx19	T	C	9: 30,374,560 (GRCm39)	W940R	possibly damaging	Het
Spopfm1	T	A	3: 94,173,791 (GRCm39)	D262E	probably benign	Het
Tasor2	G	A	13: 3,626,633 (GRCm39)	P1106S	probably benign	Het
Tcf20	G	A	15: 82,740,209 (GRCm39)	P414L	probably damaging	Het
Uckl1	C	T	2: 181,211,327 (GRCm39)	V501M	probably damaging	Het
Unc79	C	T	12: 103,108,256 (GRCm39)	T1937I	probably damaging	Het
Vmn2r17	A	T	5: 109,567,903 (GRCm39)	I9F	probably benign	Het
Vmn2r44	T	C	7: 8,383,237 (GRCm39)	H119R	probably benign	Het
Vmn2r78	A	G	7: 86,603,643 (GRCm39)	D607G	probably benign	Het
Vps13a	C	T	19: 16,641,258 (GRCm39)	G2288D	probably damaging	Het
Znfx1	G	T	2: 166,897,643 (GRCm39)	T427N	probably damaging	Het

Other mutations in Treml2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02797:Treml2	APN	17	48,609,739 (GRCm39)	missense	possibly damaging	0.73
Cottonwood	UTSW	17	48,609,775 (GRCm39)	missense	possibly damaging	0.89
poplar	UTSW	17	48,609,762 (GRCm39)	nonsense	probably null
R0105:Treml2	UTSW	17	48,609,856 (GRCm39)	missense	probably damaging	0.99
R0105:Treml2	UTSW	17	48,609,856 (GRCm39)	missense	probably damaging	0.99
R0670:Treml2	UTSW	17	48,614,864 (GRCm39)	splice site	probably null
R1538:Treml2	UTSW	17	48,609,786 (GRCm39)	missense	possibly damaging	0.77
R1796:Treml2	UTSW	17	48,616,530 (GRCm39)	makesense	probably null
R4396:Treml2	UTSW	17	48,615,142 (GRCm39)	missense	probably benign	0.00
R4679:Treml2	UTSW	17	48,615,203 (GRCm39)	missense	probably benign	0.36
R4687:Treml2	UTSW	17	48,616,425 (GRCm39)	splice site	probably null
R4801:Treml2	UTSW	17	48,616,187 (GRCm39)	missense	probably benign	0.18
R4802:Treml2	UTSW	17	48,616,187 (GRCm39)	missense	probably benign	0.18
R5314:Treml2	UTSW	17	48,607,601 (GRCm39)	missense	probably damaging	0.99
R6791:Treml2	UTSW	17	48,616,247 (GRCm39)	missense	probably benign	0.24
R6818:Treml2	UTSW	17	48,609,925 (GRCm39)	missense	probably damaging	1.00
R6958:Treml2	UTSW	17	48,615,180 (GRCm39)	missense	probably damaging	1.00
R7250:Treml2	UTSW	17	48,616,155 (GRCm39)	missense	probably benign	0.05
R7535:Treml2	UTSW	17	48,609,847 (GRCm39)	missense	probably damaging	1.00
R7850:Treml2	UTSW	17	48,615,168 (GRCm39)	missense	probably benign	0.01
R8049:Treml2	UTSW	17	48,609,762 (GRCm39)	nonsense	probably null
R8998:Treml2	UTSW	17	48,609,775 (GRCm39)	missense	possibly damaging	0.89
R9012:Treml2	UTSW	17	48,615,090 (GRCm39)	missense	possibly damaging	0.86
R9208:Treml2	UTSW	17	48,614,922 (GRCm39)	nonsense	probably null

Posted On

2014-02-04