Mutagenetix > Incidental Mutation

Incidental Mutation 'R9208:Treml2'

698669

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

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R9208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48300038-48312534 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 48307894 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 136 (R136*)

Ref Sequence

ENSEMBL: ENSMUSP00000128215 (fasta)

Gene Model

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

AlphaFold

Q2LA85

Predicted Effect

probably null
Transcript: ENSMUST00000170941
AA Change: R136*

SMART Domains

Protein: ENSMUSP00000128215
Gene: ENSMUSG00000071068
AA Change: R136*

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (65/66)

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
2810474O19Rik	C	T	6: 149,326,529	L358F	probably damaging	Het
Acot6	T	A	12: 84,106,584	L200Q	possibly damaging	Het
AI314180	A	T	4: 58,875,444	D173E	probably damaging	Het
Apbb1	A	G	7: 105,559,520	S569P	probably damaging	Het
Atl3	A	G	19: 7,510,082	I121V	probably benign	Het
C87436	A	G	6: 86,446,245	D267G	probably benign	Het
Ccdc7a	T	A	8: 128,746,001	I1617F	possibly damaging	Het
Cic	T	C	7: 25,288,077	F1397L	probably benign	Het
Cln6	T	A	9: 62,849,183	M203K	probably benign	Het
Clock	A	G	5: 76,237,024	S449P	probably benign	Het
Cse1l	C	A	2: 166,941,265	N743K	probably damaging	Het
Cyp1a2	A	G	9: 57,682,300	I77T	probably damaging	Het
D6Wsu163e	A	G	6: 126,966,969	I443V	probably benign	Het
Dctn1	T	C	6: 83,199,702	V1246A	probably benign	Het
Dennd5b	T	C	6: 149,101,200	E37G	probably benign	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Ercc5	T	C	1: 44,178,343	W949R	possibly damaging	Het
Fam13c	A	G	10: 70,553,039	E465G	probably damaging	Het
Fam83d	T	A	2: 158,768,546	C145S	probably damaging	Het
Fbln7	T	A	2: 128,895,423	V386E	probably damaging	Het
Fpr3	A	T	17: 17,970,869	Q134L	probably damaging	Het
Gm3636	T	A	14: 6,741,416	R5S	possibly damaging	Het
Gna15	A	G	10: 81,509,390	S214P	probably benign	Het
Hdac9	A	G	12: 34,170,102	M897T	probably benign	Het
Hdc	T	C	2: 126,594,680	N424D	probably benign	Het
Krtap27-1	A	G	16: 88,671,428	V76A	possibly damaging	Het
Lrrd1	T	A	5: 3,850,995	H433Q	probably damaging	Het
Ltn1	T	C	16: 87,400,410	D1180G	probably benign	Het
Macf1	A	G	4: 123,684,132	C20R	unknown	Het
Mphosph9	T	C	5: 124,312,791	N306D	probably damaging	Het
Mpp7	T	C	18: 7,403,327	R328G	probably benign	Het
Mslnl	C	T	17: 25,742,720	P117S	possibly damaging	Het
Muc16	T	A	9: 18,508,537	K117M	probably damaging	Het
Mycbp2	T	C	14: 103,295,228	N430S	probably benign	Het
Myl1	T	C	1: 66,934,524	I8V	probably benign	Het
Ncdn	A	T	4: 126,750,248	D260E	probably benign	Het
Nkx3-2	T	A	5: 41,761,771	R291S	probably damaging	Het
Nr4a2	A	G	2: 57,109,081	V448A	probably damaging	Het
Nrip1	T	C	16: 76,292,728	E647G	possibly damaging	Het
Olfr1259	C	A	2: 89,943,381	V245L	possibly damaging	Het
Olfr282	C	A	15: 98,437,733	A88E	probably benign	Het
Olfr69	A	G	7: 103,768,271	I42T	probably benign	Het
Olfr892-ps1	T	C	9: 38,189,824	M33T	possibly damaging	Het
Patj	A	T	4: 98,539,073	I172F	unknown	Het
Per1	T	C	11: 69,104,810	S739P	possibly damaging	Het
Plekhn1	A	C	4: 156,222,402	V510G	possibly damaging	Het
Plxna4	A	T	6: 32,517,444	V79D	probably damaging	Het
Pram1	A	G	17: 33,640,827	T123A	probably benign	Het
Ptpn23	C	A	9: 110,408,033		probably null	Het
Rcbtb2	C	T	14: 73,177,060	S437L	probably damaging	Het
Rxfp4	T	A	3: 88,652,083	R354*	probably null	Het
Serpinb5	A	G	1: 106,876,123	T180A	probably damaging	Het
Slc7a14	T	A	3: 31,227,210	D317V	probably damaging	Het
Slco5a1	A	G	1: 12,989,578		probably null	Het
Snx14	T	A	9: 88,383,779	T768S	probably benign	Het
Sorbs1	T	A	19: 40,365,018		probably benign	Het
Stambp	C	T	6: 83,551,972	A364T	probably damaging	Het
Tgm3	T	A	2: 130,023,698	I6N	possibly damaging	Het
Tmem106b	A	T	6: 13,082,431	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,834,213	V205A	probably benign	Het
Trim46	T	C	3: 89,235,159	T674A	possibly damaging	Het
Trmt13	T	A	3: 116,582,707	Y345F	possibly damaging	Het
Tspyl4	A	G	10: 34,297,572	H20R	probably benign	Het
Uvssa	T	C	5: 33,414,075		probably null	Het
Vmn1r192	A	T	13: 22,187,231	F273Y	probably damaging	Het
Vmn2r45	A	T	7: 8,483,299	I330N	probably damaging	Het
Zfp40	A	G	17: 23,175,577	F679L	probably 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
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

Predicted Primers

PCR Primer
(F):5'- AGAGTGCAAGCCTGACAAC -3'
(R):5'- TCTCAGGCTCTGTAACGGTG -3'

Sequencing Primer
(F):5'- TGACAACCAGGAGCCAAGC -3'
(R):5'- CCACTGGTATCGATGAAACTGTAGC -3'

Posted On

2022-02-07