Mutagenetix > Incidental Mutation

Incidental Mutation 'R8998:Treml2'

690303

Institutional Source

Beutler Lab

Gene Symbol

Treml2

Ensembl Gene

ENSMUSG00000071068

Gene Name

triggering receptor expressed on myeloid cells-like 2

Synonyms

LOC328833

MMRRC Submission

068829-MU

Accession Numbers

Essential gene?

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

Stock #

R8998 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48606526-48619561 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48609775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 69 (D69G)

Ref Sequence

ENSEMBL: ENSMUSP00000128215 (fasta)

Gene Model

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

AlphaFold

Q2LA85

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170941
AA Change: D69G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128215
Gene: ENSMUSG00000071068
AA Change: D69G

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

0.1712

Coding Region Coverage

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

Validation Efficiency

100% (41/41)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aloxe3	A	G	11: 69,033,051 (GRCm39)	K575R	probably benign	Het
Atp10b	T	A	11: 43,150,726 (GRCm39)	*1475R	probably null	Het
Baz2b	T	C	2: 59,799,608 (GRCm39)	D237G	probably benign	Het
Cacna2d4	A	C	6: 119,219,876 (GRCm39)	Q215H	possibly damaging	Het
Capn15	G	A	17: 26,182,055 (GRCm39)	R651C	probably damaging	Het
Cby2	T	C	14: 75,820,654 (GRCm39)	E357G	probably damaging	Het
Ccdc28b	A	G	4: 129,516,471 (GRCm39)	V29A	probably benign	Het
Cyb5rl	A	G	4: 106,938,157 (GRCm39)	T170A	possibly damaging	Het
D330020A13Rik	A	G	6: 120,271,890 (GRCm39)	T189A	unknown	Het
Emsy	C	A	7: 98,268,512 (GRCm39)	V524F	possibly damaging	Het
Eppk1	T	A	15: 75,980,765 (GRCm39)	N3315I	probably damaging	Het
Erich2	T	G	2: 70,361,964 (GRCm39)		probably benign	Het
Fkbp15	T	C	4: 62,242,365 (GRCm39)	D529G	probably damaging	Het
Gbx2	C	A	1: 89,856,745 (GRCm39)	G215V	possibly damaging	Het
Gzmd	T	A	14: 56,368,144 (GRCm39)	Y105F	possibly damaging	Het
Hpse	G	A	5: 100,840,109 (GRCm39)	T336M	probably damaging	Het
Hrg	A	G	16: 22,772,455 (GRCm39)	D88G	probably damaging	Het
Kif20b	G	A	19: 34,914,253 (GRCm39)		probably benign	Het
Kmt2a	A	G	9: 44,733,174 (GRCm39)	M2381T	unknown	Het
Krtap5-3	T	A	7: 141,755,933 (GRCm39)	C257S	unknown	Het
Met	C	T	6: 17,491,534 (GRCm39)	R99W	probably benign	Het
Nlrp4b	A	G	7: 10,449,629 (GRCm39)	R611G	probably null	Het
Or10a3b	A	C	7: 108,445,017 (GRCm39)	S67A	probably benign	Het
Or4b1d	C	T	2: 89,969,472 (GRCm39)	V4I	probably benign	Het
Or8b1c	T	C	9: 38,384,787 (GRCm39)	V248A	probably benign	Het
Or9m1	T	A	2: 87,733,189 (GRCm39)	Y277F	probably damaging	Het
Pclo	A	G	5: 14,727,510 (GRCm39)	I2123V	unknown	Het
Phf10	G	C	17: 15,170,883 (GRCm39)	A350G	probably benign	Het
Pira2	T	C	7: 3,845,490 (GRCm39)	Y298C	probably damaging	Het
Pkhd1	A	T	1: 20,434,425 (GRCm39)	Y2338N	probably damaging	Het
Psme4	C	T	11: 30,788,957 (GRCm39)	L1120F	possibly damaging	Het
Safb2	A	T	17: 56,870,391 (GRCm39)	H934Q	possibly damaging	Het
Slc4a7	T	A	14: 14,775,346 (GRCm38)	L884Q	probably damaging	Het
Smc4	A	C	3: 68,934,894 (GRCm39)		probably benign	Het
Spag16	T	C	1: 69,935,706 (GRCm39)	V311A	probably benign	Het
Sprr2j-ps	T	C	3: 92,326,176 (GRCm39)	V17A	unknown	Het
Tenm3	T	C	8: 48,729,722 (GRCm39)	Y1428C	probably damaging	Het
Tent4b	A	G	8: 88,977,350 (GRCm39)	H384R	probably benign	Het
Ttn	T	C	2: 76,658,277 (GRCm39)	K12368E	unknown	Het
Usp17le	T	C	7: 104,417,969 (GRCm39)	D391G	probably benign	Het
Usp28	G	A	9: 48,949,139 (GRCm39)	R911Q	probably benign	Het
Wdfy3	A	C	5: 101,993,058 (GRCm39)	S3274R	probably benign	Het
Ythdc2	T	C	18: 44,997,371 (GRCm39)	V976A	probably benign	Het
Zfp334	A	G	2: 165,223,408 (GRCm39)	S212P	possibly damaging	Het

Other mutations in Treml2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01767:Treml2	APN	17	48,609,838 (GRCm39)	missense	probably benign
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
R9012:Treml2	UTSW	17	48,615,090 (GRCm39)	missense	possibly damaging	0.86
R9208:Treml2	UTSW	17	48,614,922 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCGACCTTGGTCAGAAAAGTC -3'
(R):5'- ACCATTGTTCCATGATCCCG -3'

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

Posted On

2021-11-19