Mutagenetix > Incidental Mutation

Incidental Mutation 'R4879:Lrrtm2'

375174

Institutional Source

Beutler Lab

Gene Symbol

Lrrtm2

Ensembl Gene

ENSMUSG00000071862

Gene Name

leucine rich repeat transmembrane neuronal 2

Synonyms

C630011A14Rik

MMRRC Submission

042488-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4879 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35342056-35348077 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35346372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 310 (G310V)

Ref Sequence

ENSEMBL: ENSMUSP00000089225 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042345] [ENSMUST00000091636]

AlphaFold

Q8BGA3

Predicted Effect

probably benign
Transcript: ENSMUST00000042345

SMART Domains

Protein: ENSMUSP00000049007
Gene: ENSMUSG00000037815

Domain	Start	End	E-Value	Type
Pfam:Vinculin	19	339	2.6e-99	PFAM
Pfam:Vinculin	333	867	3.3e-218	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000091636
AA Change: G310V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000089225
Gene: ENSMUSG00000071862
AA Change: G310V

Domain	Start	End	E-Value	Type
LRRNT	33	61	2.45e0	SMART
LRR_TYP	84	107	5.14e-3	SMART
LRR_TYP	108	131	3.58e-2	SMART
LRR_TYP	132	155	1.6e-4	SMART
LRR_TYP	156	179	4.24e-4	SMART
LRR	180	203	1.14e0	SMART
LRR	204	224	6.05e0	SMART
LRR	228	251	5.12e1	SMART
LRR	252	275	1.97e2	SMART
LRR	276	299	2.45e0	SMART
Blast:LRRCT	311	360	2e-11	BLAST
transmembrane domain	422	444	N/A	INTRINSIC

Meta Mutation Damage Score

0.3434

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

97% (86/89)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,110,526 (GRCm39)	Y541F	probably damaging	Het
Acot12	T	A	13: 91,911,083 (GRCm39)	V136E	probably benign	Het
Aftph	A	G	11: 20,648,311 (GRCm39)		probably null	Het
Ambra1	C	T	2: 91,603,039 (GRCm39)		probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano9	T	C	7: 140,690,415 (GRCm39)	D73G	probably benign	Het
Asap3	G	A	4: 135,969,975 (GRCm39)	D778N	probably benign	Het
Atp8a2	G	T	14: 60,245,918 (GRCm39)	Y591*	probably null	Het
Blk	T	C	14: 63,613,414 (GRCm39)	T365A	probably benign	Het
C4b	G	T	17: 34,962,621 (GRCm39)	S27Y	probably damaging	Het
C6	G	T	15: 4,833,129 (GRCm39)		probably null	Het
Ccdc33	T	A	9: 57,974,839 (GRCm39)	I345F	possibly damaging	Het
Cetn3	T	A	13: 81,940,268 (GRCm39)		probably benign	Het
Cntn3	T	A	6: 102,244,389 (GRCm39)	I387L	possibly damaging	Het
Cog8	A	G	8: 107,782,984 (GRCm39)	C102R	probably damaging	Het
Cspg4b	T	C	13: 113,456,321 (GRCm39)	I789T	probably benign	Het
Cyp2c55	CA	C	19: 39,030,522 (GRCm39)		probably null	Het
Defa40	T	A	8: 21,740,380 (GRCm39)	L62Q	probably damaging	Het
Dmxl1	C	T	18: 50,022,534 (GRCm39)	A1624V	probably damaging	Het
Dnah1	T	G	14: 31,022,705 (GRCm39)	E1144A	possibly damaging	Het
Dnah12	T	A	14: 26,439,201 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,367,517 (GRCm39)	T1794I	probably damaging	Het
Entrep1	T	C	19: 23,953,019 (GRCm39)		probably null	Het
Erbin	A	T	13: 103,971,282 (GRCm39)	M778K	probably benign	Het
Fbxw10	G	T	11: 62,738,573 (GRCm39)	A156S	probably damaging	Het
Flnc	T	A	6: 29,460,805 (GRCm39)	F2632Y	probably damaging	Het
Frmd4a	A	G	2: 4,534,628 (GRCm39)	K160E	probably damaging	Het
Glipr1l2	A	G	10: 111,943,029 (GRCm39)	K295E	probably benign	Het
Herc1	T	A	9: 66,370,119 (GRCm39)	C465*	probably null	Het
Hoxb4	A	G	11: 96,211,014 (GRCm39)	I205V	probably damaging	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Il36a	A	G	2: 24,106,032 (GRCm39)	N29S	probably benign	Het
Ilk	A	G	7: 105,391,011 (GRCm39)	S292G	probably benign	Het
Itgb5	G	C	16: 33,696,348 (GRCm39)	G180R	probably damaging	Het
Josd1-ps	T	C	7: 27,648,768 (GRCm39)		noncoding transcript	Het
Kcnip4	T	C	5: 48,567,207 (GRCm39)	D120G	possibly damaging	Het
Kin	A	G	2: 10,085,455 (GRCm39)	D5G	probably benign	Het
Med1	T	C	11: 98,046,186 (GRCm39)		probably benign	Het
Mepce	C	A	5: 137,783,544 (GRCm39)		probably benign	Het
Nckipsd	T	A	9: 108,691,114 (GRCm39)		probably benign	Het
Notch3	T	A	17: 32,366,937 (GRCm39)	Q866L	probably benign	Het
Or52b4	A	T	7: 102,183,962 (GRCm39)	T3S	probably benign	Het
Or5l14	A	T	2: 87,793,040 (GRCm39)	H65Q	possibly damaging	Het
Or8k20	A	T	2: 86,106,107 (GRCm39)	C241*	probably null	Het
Orai1	T	C	5: 123,149,894 (GRCm39)		probably benign	Het
Pate12	G	A	9: 36,344,089 (GRCm39)	C24Y	probably damaging	Het
Pcdhb8	A	T	18: 37,489,219 (GRCm39)	E299V	probably damaging	Het
Pcnx4	G	A	12: 72,613,959 (GRCm39)	D635N	probably damaging	Het
Pex5	T	C	6: 124,375,322 (GRCm39)	I567V	probably benign	Het
Ppfibp2	T	C	7: 107,328,390 (GRCm39)	S485P	probably benign	Het
Sbno1	T	C	5: 124,542,087 (GRCm39)	Y356C	probably damaging	Het
Sdcbp	T	C	4: 6,381,056 (GRCm39)	I67T	possibly damaging	Het
Slc5a7	A	G	17: 54,583,679 (GRCm39)	I537T	probably benign	Het
Slc66a1	A	T	4: 139,029,095 (GRCm39)		probably null	Het
Smad4	A	G	18: 73,774,974 (GRCm39)	C442R	probably damaging	Het
Smpd5	A	G	15: 76,179,070 (GRCm39)	H146R	possibly damaging	Het
Snai2	A	G	16: 14,524,605 (GRCm39)	Y37C	probably benign	Het
Snapc4	C	T	2: 26,256,004 (GRCm39)	S840N	possibly damaging	Het
Stpg2	T	C	3: 138,921,134 (GRCm39)	I113T	probably benign	Het
Tbc1d32	T	C	10: 55,925,125 (GRCm39)		probably null	Het
Tfg	A	T	16: 56,521,520 (GRCm39)	S39R	probably damaging	Het
Thsd7b	T	A	1: 130,116,236 (GRCm39)	S1330T	possibly damaging	Het
Tnfaip3	T	C	10: 18,881,321 (GRCm39)	T322A	probably benign	Het
Tpra1	A	G	6: 88,888,691 (GRCm39)	Y291C	probably damaging	Het
Trcg1	A	G	9: 57,154,003 (GRCm39)	D658G	probably damaging	Het
Trip4	C	T	9: 65,782,304 (GRCm39)	V143I	probably benign	Het
Trp53bp1	T	C	2: 121,033,084 (GRCm39)	K1691E	probably damaging	Het
Ttc8	T	A	12: 98,908,562 (GRCm39)	M77K	possibly damaging	Het
Tubb2a	A	T	13: 34,258,572 (GRCm39)	M406K	probably benign	Het
Txnrd1	T	A	10: 82,717,751 (GRCm39)		probably null	Het
Ugt2a3	C	A	5: 87,479,144 (GRCm39)	R268L	probably benign	Het
Usp34	T	G	11: 23,323,410 (GRCm39)	M982R	possibly damaging	Het
Vmn2r43	T	A	7: 8,258,102 (GRCm39)	K370N	probably benign	Het
Vopp1	A	T	6: 57,739,355 (GRCm39)		probably benign	Het
Vps11	A	C	9: 44,264,597 (GRCm39)	C660G	probably benign	Het
Wnk1	T	C	6: 119,926,338 (GRCm39)	H1137R	probably damaging	Het
Wtap	A	G	17: 13,188,322 (GRCm39)	Y193H	probably damaging	Het
Zfp462	T	A	4: 55,009,444 (GRCm39)	V470D	probably benign	Het

Other mutations in Lrrtm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Lrrtm2	APN	18	35,346,321 (GRCm39)	missense	probably benign	0.13
IGL00835:Lrrtm2	APN	18	35,347,292 (GRCm39)	missense	probably benign	0.03
IGL01097:Lrrtm2	APN	18	35,345,994 (GRCm39)	missense	probably damaging	1.00
IGL01589:Lrrtm2	APN	18	35,345,851 (GRCm39)	missense	probably damaging	1.00
IGL02106:Lrrtm2	APN	18	35,345,868 (GRCm39)	nonsense	probably null
R0149:Lrrtm2	UTSW	18	35,345,985 (GRCm39)	missense	probably benign	0.28
R0361:Lrrtm2	UTSW	18	35,345,985 (GRCm39)	missense	probably benign	0.28
R0924:Lrrtm2	UTSW	18	35,346,808 (GRCm39)	missense	probably damaging	1.00
R1189:Lrrtm2	UTSW	18	35,346,545 (GRCm39)	nonsense	probably null
R1417:Lrrtm2	UTSW	18	35,347,011 (GRCm39)	missense	probably damaging	1.00
R1585:Lrrtm2	UTSW	18	35,346,428 (GRCm39)	missense	possibly damaging	0.86
R3433:Lrrtm2	UTSW	18	35,346,950 (GRCm39)	missense	probably damaging	1.00
R4019:Lrrtm2	UTSW	18	35,345,923 (GRCm39)	missense	possibly damaging	0.76
R4540:Lrrtm2	UTSW	18	35,346,199 (GRCm39)	missense	probably benign	0.29
R4664:Lrrtm2	UTSW	18	35,347,310 (GRCm39)	splice site	probably null
R5797:Lrrtm2	UTSW	18	35,346,759 (GRCm39)	missense	probably damaging	1.00
R7378:Lrrtm2	UTSW	18	35,346,645 (GRCm39)	missense	probably damaging	1.00
R7387:Lrrtm2	UTSW	18	35,346,025 (GRCm39)	missense	probably damaging	1.00
R7391:Lrrtm2	UTSW	18	35,345,818 (GRCm39)	missense	possibly damaging	0.75
R7408:Lrrtm2	UTSW	18	35,346,688 (GRCm39)	missense	possibly damaging	0.88
R7584:Lrrtm2	UTSW	18	35,345,818 (GRCm39)	missense	possibly damaging	0.75
R7629:Lrrtm2	UTSW	18	35,347,310 (GRCm39)	splice site	probably null
R8105:Lrrtm2	UTSW	18	35,346,510 (GRCm39)	missense	probably damaging	0.99
R8163:Lrrtm2	UTSW	18	35,346,777 (GRCm39)	missense	probably damaging	1.00
R8490:Lrrtm2	UTSW	18	35,346,451 (GRCm39)	splice site	probably null
R8702:Lrrtm2	UTSW	18	35,346,018 (GRCm39)	missense	probably damaging	1.00
R9513:Lrrtm2	UTSW	18	35,346,687 (GRCm39)	missense	probably damaging	1.00
R9617:Lrrtm2	UTSW	18	35,346,490 (GRCm39)	missense	probably benign	0.41
R9725:Lrrtm2	UTSW	18	35,345,788 (GRCm39)	missense	probably damaging	1.00
Z1176:Lrrtm2	UTSW	18	35,347,712 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTAGCCATGGCAGTGACAG -3'
(R):5'- CAAAATCAGCAACTTGACGTGTG -3'

Sequencing Primer
(F):5'- GTGACAGTGGTTGATAAATTCCAGC -3'
(R):5'- ACTGGACCTGGAGCACTTTAG -3'

Posted On

2016-03-17