Mutagenetix > Incidental Mutations

Incidental Mutation 'R6958:Treml2'

541614

Institutional Source

Beutler Lab

Gene Symbol

Treml2

Ensembl Gene

ENSMUSG00000071068

Gene Name

triggering receptor expressed on myeloid cells-like 2

Synonyms

LOC328833

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R6958 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48300038-48312534 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48308152 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 222 (T222A)

Ref Sequence

ENSEMBL: ENSMUSP00000128215 (fasta)

Gene Model

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

AlphaFold

Q2LA85

Predicted Effect

probably damaging
Transcript: ENSMUST00000170941
AA Change: T222A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128215
Gene: ENSMUSG00000071068
AA Change: T222A

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: 99.2%
20x: 96.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	G	3: 145,943,803	D159G	probably benign	Het
Ahnak	A	G	19: 9,015,215	N4621S	possibly damaging	Het
Ankrd16	C	T	2: 11,779,793	A144V	probably damaging	Het
BC080695	A	T	4: 143,571,259	D83V	probably damaging	Het
Ccdc14	T	C	16: 34,690,806	V2A	probably damaging	Het
Ccdc187	C	T	2: 26,289,719	V243I	probably benign	Het
Cdk12	A	T	11: 98,241,699	I985F	unknown	Het
Cfap65	T	C	1: 74,931,899	T87A	possibly damaging	Het
Cilp2	G	A	8: 69,882,540	P603S	probably benign	Het
Cntnap5b	A	G	1: 100,274,472	E348G	probably benign	Het
Cpa6	C	T	1: 10,595,688	V42M	probably damaging	Het
Cpsf4	A	G	5: 145,175,592	I115V	probably benign	Het
Dnah11	G	T	12: 117,933,809	P3562Q	probably damaging	Het
Dnah9	A	G	11: 66,076,341	F1664L	probably damaging	Het
Dpysl3	T	C	18: 43,438,002	Q69R	probably benign	Het
Dusp27	T	A	1: 166,107,996	D211V	probably damaging	Het
Ebf3	T	C	7: 137,199,265	T455A	possibly damaging	Het
Eif2ak3	T	A	6: 70,892,683	C785S	probably benign	Het
Elk4	T	A	1: 132,017,832	F149L	probably damaging	Het
Fgf14	A	G	14: 124,676,597	W41R	probably benign	Het
Fmnl1	T	A	11: 103,171,314	M1K	probably null	Het
Foxk2	A	T	11: 121,299,737	Q568L	probably benign	Het
Fryl	T	G	5: 73,073,929	I1602L	possibly damaging	Het
Gfm2	A	G	13: 97,146,236	I75V	probably damaging	Het
Gm3233	T	A	10: 77,759,535		probably benign	Het
Gm5096	G	A	18: 87,756,922	E190K	probably benign	Het
Gnb1	G	T	4: 155,543,194		probably null	Het
Gphn	G	T	12: 78,680,299	V662L	possibly damaging	Het
Il3	A	C	11: 54,267,111	V47G	probably benign	Het
Iqgap3	A	G	3: 88,113,366	D401G	possibly damaging	Het
Kdm3b	T	A	18: 34,808,283	S276T	probably benign	Het
Krtap6-2	A	G	16: 89,419,810	S90P	unknown	Het
Lars	C	T	18: 42,236,639	V394I	probably damaging	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Lrp10	A	G	14: 54,469,821		probably benign	Het
Ltn1	A	T	16: 87,397,791	C1407S	probably benign	Het
Lzts2	G	T	19: 45,024,143		probably benign	Het
Msantd2	A	G	9: 37,523,457	E331G	probably damaging	Het
Myo15	G	A	11: 60,503,625	G1218S	probably benign	Het
Myom2	G	A	8: 15,117,741	A1109T	probably null	Het
Nhp2	A	G	11: 51,623,107	T118A	probably benign	Het
Nup155	A	G	15: 8,147,154	Y972C	probably damaging	Het
Nxpe2	A	T	9: 48,326,266	C230S	probably damaging	Het
Olfr103	T	C	17: 37,336,417	I272V	probably benign	Het
Olfr1151	T	C	2: 87,857,951	Y259H	probably damaging	Het
Olfr577	A	G	7: 102,973,884	L36P	possibly damaging	Het
Pfkfb4	A	T	9: 109,010,547	N244I	probably damaging	Het
Pi4ka	C	T	16: 17,325,227	R24Q	probably damaging	Het
Pkd2l2	C	A	18: 34,409,490	Y8*	probably null	Het
Ptprb	T	A	10: 116,277,248	N44K	probably benign	Het
Sds	G	A	5: 120,481,472	V149M	probably damaging	Het
Slc22a30	A	G	19: 8,386,701	F204L	probably damaging	Het
Slc26a7	C	T	4: 14,506,442	A636T	probably benign	Het
Slc27a1	C	T	8: 71,585,439	A577V	possibly damaging	Het
Spata13	A	T	14: 60,751,851	T319S	possibly damaging	Het
Tdrd3	A	G	14: 87,457,096	D29G	probably damaging	Het
Tex15	A	T	8: 33,570,871	I110L	probably benign	Het
Trpd52l3	A	T	19: 30,004,146	L100F	probably damaging	Het
Ttf2	C	T	3: 100,945,932	E975K	probably benign	Het
Vmn1r193	T	A	13: 22,219,974		probably benign	Het
Xpo1	A	G	11: 23,285,855	T648A	probably benign	Het
Zfp641	C	T	15: 98,292,951	V71I	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- ATTTGTCACGACCGGCCAAG -3'
(R):5'- AATCCCATTCAGCAACGGGC -3'

Sequencing Primer
(F):5'- GACCGGCCAAGTCCATATTTCAG -3'
(R):5'- TGGTTAGAAGTAAGAGTGACCTC -3'

Posted On

2018-11-28