Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02106:Lrrtm2'

279986

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrtm2

Ensembl Gene

ENSMUSG00000071862

Gene Name

leucine rich repeat transmembrane neuronal 2

Synonyms

C630011A14Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02106

Quality Score

Status

Chromosome

Chromosomal Location

35342056-35348077 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 35345868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 478 (S478*)

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 null
Transcript: ENSMUST00000091636
AA Change: S478*

SMART Domains

Protein: ENSMUSP00000089225
Gene: ENSMUSG00000071862
AA Change: S478*

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl9l	A	G	9: 44,420,496 (GRCm39)	N1264D	probably benign	Het
Bmyc	A	G	2: 25,597,082 (GRCm39)	K49E	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Ceacam2	A	G	7: 25,230,166 (GRCm39)	S147P	probably benign	Het
Cep152	G	T	2: 125,444,856 (GRCm39)		probably null	Het
Cnbd1	G	T	4: 18,894,993 (GRCm39)	P250T	possibly damaging	Het
Col6a4	A	G	9: 105,940,304 (GRCm39)	C1209R	possibly damaging	Het
Coro1c	T	C	5: 113,990,334 (GRCm39)	T116A	probably benign	Het
Ddx46	A	G	13: 55,825,416 (GRCm39)		probably benign	Het
Dnaaf5	T	C	5: 139,137,268 (GRCm39)	I207T	probably damaging	Het
Erap1	A	G	13: 74,794,758 (GRCm39)	D139G	probably benign	Het
Fbxw22	A	T	9: 109,231,087 (GRCm39)	I121N	possibly damaging	Het
Fcmr	T	C	1: 130,802,872 (GRCm39)	S162P	probably benign	Het
Gadl1	A	G	9: 115,766,225 (GRCm39)		probably benign	Het
Gli2	T	A	1: 118,764,465 (GRCm39)	S1229C	probably benign	Het
Gm10717	A	T	9: 3,026,287 (GRCm39)	Y195F	probably damaging	Het
Gne	T	C	4: 44,037,306 (GRCm39)	N692D	probably damaging	Het
Knl1	A	G	2: 118,902,489 (GRCm39)	T1397A	possibly damaging	Het
Lama3	C	A	18: 12,601,371 (GRCm39)	A1016E	probably damaging	Het
Lhfpl2	A	G	13: 94,328,419 (GRCm39)	D160G	probably benign	Het
Lmtk2	T	A	5: 144,112,769 (GRCm39)	V1163E	probably benign	Het
Nfatc2ip	T	C	7: 125,989,736 (GRCm39)		probably null	Het
Nlrp12	A	G	7: 3,282,574 (GRCm39)	I775T	probably benign	Het
Npr1	A	G	3: 90,372,165 (GRCm39)	F216L	probably benign	Het
Or4m1	A	T	14: 50,557,617 (GRCm39)	L225H	probably damaging	Het
Or5ac24	T	A	16: 59,165,387 (GRCm39)	N226Y	probably benign	Het
Or5b99	G	T	19: 12,976,929 (GRCm39)	S193I	possibly damaging	Het
Pkd1l1	C	A	11: 8,783,800 (GRCm39)	G2052C	probably damaging	Het
Ppp1r16b	A	G	2: 158,588,451 (GRCm39)	N112S	possibly damaging	Het
Prr11	A	G	11: 86,994,141 (GRCm39)		probably benign	Het
Scap	A	G	9: 110,210,724 (GRCm39)		probably benign	Het
Sirt1	C	T	10: 63,171,608 (GRCm39)	R191Q	probably damaging	Het
Slc38a6	A	C	12: 73,397,320 (GRCm39)	S321R	possibly damaging	Het
Sp140	T	C	1: 85,570,940 (GRCm39)	V460A	probably benign	Het
Spdye4c	A	T	2: 128,434,586 (GRCm39)	K54N	possibly damaging	Het
Spta1	T	A	1: 174,030,860 (GRCm39)	N947K	probably benign	Het
Srgap1	A	G	10: 121,621,598 (GRCm39)	V965A	possibly damaging	Het
Tmem209	A	C	6: 30,508,659 (GRCm39)		probably null	Het
Trim37	A	T	11: 87,092,230 (GRCm39)	K123*	probably null	Het
Trio	T	C	15: 27,744,244 (GRCm39)	T2563A	possibly damaging	Het
Utrn	A	T	10: 12,289,717 (GRCm39)	S734T	possibly damaging	Het
Vars2	A	G	17: 35,975,513 (GRCm39)		probably benign	Het
Xrn1	G	A	9: 95,859,858 (GRCm39)	E417K	probably benign	Het
Yeats2	T	A	16: 20,011,970 (GRCm39)	V515E	possibly damaging	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
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
R4879:Lrrtm2	UTSW	18	35,346,372 (GRCm39)	missense	probably damaging	0.98
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

Posted On

2015-04-16