Mutagenetix > Incidental Mutations

Incidental Mutation 'R9012:Treml2'

685723

Institutional Source

Beutler Lab

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: 0.060) question?

Stock #

R9012 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48300038-48312534 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48308062 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 192 (T192A)

Ref Sequence

ENSEMBL: ENSMUSP00000128215 (fasta)

Gene Model

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

AlphaFold

Q2LA85

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170941
AA Change: T192A

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128215
Gene: ENSMUSG00000071068
AA Change: T192A

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	A	G	17: 25,947,711	L284P	probably benign	Het
Agt	T	C	8: 124,564,215	N118D	probably benign	Het
Apol8	T	C	15: 77,750,124	D84G	probably benign	Het
Arl6ip5	T	A	6: 97,210,877	D19E	probably benign	Het
B3gnt3	G	T	8: 71,693,029	H232N	probably damaging	Het
Btbd10	T	C	7: 113,322,757	K347R	probably damaging	Het
Capn5	C	T	7: 98,164,843		probably benign	Het
Ccdc181	C	T	1: 164,282,493	R390W	probably damaging	Het
Cdc42bpa	T	C	1: 180,031,512	V93A		Het
Clcn1	A	G	6: 42,291,633	I191V	possibly damaging	Het
Coro1c	T	C	5: 113,850,676	D202G	probably damaging	Het
Cul9	A	G	17: 46,543,521	I85T	probably benign	Het
Cyp2c55	C	T	19: 39,042,116	T464I	probably benign	Het
Dlgap1	G	A	17: 70,516,187	E56K	possibly damaging	Het
Dnajc6	T	C	4: 101,612,959	F298L	probably damaging	Het
E130311K13Rik	A	T	3: 63,915,513	W237R	probably damaging	Het
Fes	T	A	7: 80,383,136	D287V	possibly damaging	Het
Fstl5	G	T	3: 76,659,720	W557L	probably damaging	Het
Gad2	A	G	2: 22,690,251	N555D	possibly damaging	Het
Gm10277	C	T	11: 77,786,022	R41K	unknown	Het
Gm11639	G	A	11: 104,820,521		probably null	Het
Gm21834	T	C	17: 57,742,167	E18G	probably null	Het
Hnrnpul2	T	C	19: 8,824,465	F346L	possibly damaging	Het
Hspa4	A	T	11: 53,268,575	V524E	probably benign	Het
Ikbke	T	C	1: 131,273,453	I207V	probably damaging	Het
Iqsec3	T	C	6: 121,413,037	I492V	unknown	Het
Itsn1	C	A	16: 91,848,961	F846L	unknown	Het
Ldhal6b	A	T	17: 5,417,667	Y331N	probably damaging	Het
Lrrc37a	T	G	11: 103,499,152	T1816P	probably benign	Het
Lzts1	C	T	8: 69,140,898	R19H	probably damaging	Het
Maats1	T	C	16: 38,301,973	E712G	probably damaging	Het
Mast4	T	A	13: 102,798,098	T338S	probably benign	Het
Mst1r	A	G	9: 107,914,761	E832G	probably benign	Het
Myom1	T	G	17: 71,100,108	D1173E	probably benign	Het
Nlrp9c	T	A	7: 26,375,308	I821F	probably benign	Het
Obscn	T	C	11: 59,130,597	K806E	probably benign	Het
Olfr1225	A	G	2: 89,170,585	I209T	possibly damaging	Het
Olfr695	T	C	7: 106,713,908	M258V	probably benign	Het
Olfr811	A	C	10: 129,801,602	S308A	probably benign	Het
Palld	T	A	8: 61,720,663	S321C	possibly damaging	Het
Pank4	C	A	4: 154,978,390		probably benign	Het
Psg26	T	A	7: 18,482,671	H81L	probably benign	Het
Ptprq	C	T	10: 107,653,550	E905K	probably benign	Het
Siglecg	T	A	7: 43,411,099	L301Q	probably damaging	Het
Slc25a15	A	G	8: 22,377,862	W301R	probably benign	Het
Slco1b2	T	A	6: 141,656,828	V169D	probably damaging	Het
Sned1	T	C	1: 93,284,598	V1174A	probably damaging	Het
Sorl1	A	G	9: 42,071,195	V363A	probably damaging	Het
Sppl3	C	A	5: 115,088,928	P239T	probably benign	Het
Stox1	A	T	10: 62,664,832	S650T	probably benign	Het
Tbc1d9b	A	G	11: 50,149,861	T402A	probably benign	Het
Tmem104	A	T	11: 115,201,318	E84D	probably benign	Het
Tox4	T	C	14: 52,285,751	V56A	probably benign	Het
Trav7-6	A	G	14: 53,717,147	K65E	probably benign	Het
Vmn2r110	T	C	17: 20,583,365	D316G	probably damaging	Het
Vmn2r5	A	T	3: 64,504,494	W218R	probably damaging	Het
Vwa3b	A	G	1: 37,085,310	S330G	probably benign	Het
Wdr81	A	G	11: 75,449,145	V220A	possibly damaging	Het
Zbbx	A	G	3: 75,061,653	S504P	possibly damaging	Het
Zfp68	A	T	5: 138,607,021	C347S	probably damaging	Het
Zfp936	T	A	7: 43,189,992	C294*	probably null	Het

Other mutations in Treml2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01767:Treml2	APN	17	48302810	missense	probably benign
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
R9208:Treml2	UTSW	17	48307894	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCAGCCCTCACAACTGAGAG -3'
(R):5'- ATAACCTGTTGGGAGTTAACGG -3'

Sequencing Primer
(F):5'- TCACAACTGAGAGAAACGTTCC -3'
(R):5'- GTGGTGGACAAGCTGCTACTC -3'

Posted On

2021-10-11