Mutagenetix > Incidental Mutations

Incidental Mutation 'R8049:Treml2'

618962

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 #

R8049 (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 48302734 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 65 (K65*)

Ref Sequence

ENSEMBL: ENSMUSP00000128215 (fasta)

Gene Model

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

AlphaFold

Q2LA85

Predicted Effect

probably null
Transcript: ENSMUST00000170941
AA Change: K65*

SMART Domains

Protein: ENSMUSP00000128215
Gene: ENSMUSG00000071068
AA Change: K65*

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (55/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	T	16: 88,759,104	T69S	probably benign	Het
2310050C09Rik	A	T	3: 92,868,895	Y160*	probably null	Het
2610044O15Rik8	A	T	8: 129,220,074	L90H	probably damaging	Het
3110001I22Rik	C	T	16: 13,677,759	R241C	probably damaging	Het
3632451O06Rik	G	T	14: 49,773,536	A238E	probably damaging	Het
5730455P16Rik	A	G	11: 80,377,972	S4P	possibly damaging	Het
Abca13	T	A	11: 9,291,867	N1243K	probably damaging	Het
Adgrg6	A	T	10: 14,428,199	S824T	probably benign	Het
C3ar1	T	A	6: 122,850,100	Y386F	probably damaging	Het
Cdc14a	T	C	3: 116,293,928	N527S	probably benign	Het
Cfap69	A	T	5: 5,619,085		probably benign	Het
Col7a1	C	T	9: 108,975,563	P2279S	unknown	Het
Crb2	G	A	2: 37,793,240	G918D	probably benign	Het
Dcn	C	A	10: 97,513,617	N250K	probably damaging	Het
Dctn5	G	A	7: 122,133,243		probably benign	Het
Ddx55	T	C	5: 124,556,758	V83A	probably damaging	Het
Dnaja2	T	A	8: 85,539,247	H403L	possibly damaging	Het
Dpy19l4	T	C	4: 11,303,982	I143V	probably benign	Het
Efna5	G	T	17: 62,650,982	T93K	probably benign	Het
Eml6	A	G	11: 29,893,201	V171A	possibly damaging	Het
Esyt1	C	G	10: 128,512,086	V942L	probably benign	Het
Fam184a	C	A	10: 53,633,706	E126*	probably null	Het
Fam78a	C	A	2: 32,083,023		probably benign	Het
Fat2	A	G	11: 55,312,066	Y61H	probably benign	Het
Fbxw14	A	T	9: 109,276,143	M318K	probably damaging	Het
Gm14295	A	G	2: 176,809,078	I120M	probably benign	Het
Gm14403	T	A	2: 177,508,518	Y86N	probably benign	Het
Gmcl1	G	T	6: 86,721,426	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Gpr55	T	C	1: 85,941,697	D54G	probably benign	Het
Gtf2b	T	G	3: 142,778,214	S50A	probably damaging	Het
Ifit3	A	T	19: 34,588,080	E342V	possibly damaging	Het
Iqgap3	T	A	3: 88,104,302	I798N	probably damaging	Het
Lpin1	T	C	12: 16,563,684	D494G		Het
Lsm12	T	C	11: 102,165,409	E149G	possibly damaging	Het
Mtfr2	T	C	10: 20,352,857	S50P	possibly damaging	Het
Ndnf	T	C	6: 65,703,430	M231T	probably benign	Het
Noc3l	A	T	19: 38,812,429	V203E	probably benign	Het
Olfr368	A	T	2: 37,332,334	T196S	probably damaging	Het
Olfr387-ps1	G	T	11: 73,665,162	K184N	possibly damaging	Het
Olfr649	C	A	7: 104,189,810	L132F	probably damaging	Het
Olfr824	A	T	10: 130,126,600	Y152*	probably null	Het
Pcnx	C	T	12: 81,918,819	R59*	probably null	Het
Pde6b	C	T	5: 108,425,252	P496L	probably benign	Het
Plppr1	A	T	4: 49,300,942	M92L	probably benign	Het
Ptprk	C	G	10: 28,383,569	S335C	possibly damaging	Het
Rars2	T	A	4: 34,650,217	M334K	probably benign	Het
Rasl10a	A	T	11: 5,059,823	I124F	probably damaging	Het
Rgs12	T	A	5: 35,026,030	V1007E	possibly damaging	Het
Rnf122	T	A	8: 31,128,580	C119S	probably damaging	Het
Scn11a	T	A	9: 119,755,083	I1489F	probably damaging	Het
Setd6	C	A	8: 95,716,688	S186R	probably benign	Het
Tex19.1	A	G	11: 121,147,322	T169A	probably benign	Het
Th	G	A	7: 142,894,123	P408S	probably damaging	Het
Trappc13	T	C	13: 104,144,544	M337V	probably benign	Het
Ubxn4	T	C	1: 128,256,196	S98P	probably damaging	Het
Wrnip1	A	G	13: 32,821,977	S601G	probably benign	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
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'- AAGATGCCTTCTTTCTCGGC -3'
(R):5'- GAACCATTGTTCCATGATCCCG -3'

Sequencing Primer
(F):5'- GCCGACCTTGGTCAGAAAAGTC -3'
(R):5'- AGGTCTGCTCACCTGGATACAC -3'

Posted On

2020-01-23