Mutagenetix > Incidental Mutation

Incidental Mutation 'R9725:Lrrtm2'

731006

Institutional Source

Beutler Lab

Gene Symbol

Lrrtm2

Ensembl Gene

ENSMUSG00000071862

Gene Name

leucine rich repeat transmembrane neuronal 2

Synonyms

C630011A14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9725 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35342056-35348077 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35345788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 505 (C505R)

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: C505R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000089225
Gene: ENSMUSG00000071862
AA Change: C505R

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	G	16: 14,290,797 (GRCm39)	I1469S	possibly damaging	Het
Aff1	A	T	5: 103,994,931 (GRCm39)	D1043V	probably damaging	Het
Ahnak	T	A	19: 8,991,607 (GRCm39)	I4297N	probably damaging	Het
Ahnak	A	G	19: 8,981,533 (GRCm39)	N939S	probably benign	Het
Camk2b	T	C	11: 5,922,634 (GRCm39)	N465S	possibly damaging	Het
Carns1	A	G	19: 4,216,548 (GRCm39)	S545P	probably damaging	Het
Cdh23	T	A	10: 60,432,561 (GRCm39)	Q121L	probably benign	Het
Cfap221	G	T	1: 119,862,352 (GRCm39)	Q577K	probably benign	Het
Dlg1	T	G	16: 31,665,683 (GRCm39)	L680R	probably benign	Het
Fahd2a	T	C	2: 127,278,304 (GRCm39)	E301G	probably benign	Het
Fn3k	T	A	11: 121,341,191 (GRCm39)	L282H	probably damaging	Het
Fubp1	T	A	3: 151,927,823 (GRCm39)	I424N	probably damaging	Het
Gkn1	A	G	6: 87,323,289 (GRCm39)	S175P	probably damaging	Het
Gm12695	A	G	4: 96,616,466 (GRCm39)	S456P	probably damaging	Het
Kcna5	T	C	6: 126,511,844 (GRCm39)	T95A	probably benign	Het
Kcnj13	G	T	1: 87,314,737 (GRCm39)	T83K	probably benign	Het
Kif19b	G	A	5: 140,460,651 (GRCm39)	R439H	probably benign	Het
Klra10	C	T	6: 130,252,849 (GRCm39)	G142R	probably benign	Het
Krt14	T	C	11: 100,097,902 (GRCm39)	N127S	probably damaging	Het
Layn	T	C	9: 50,968,775 (GRCm39)	M323V	probably benign	Het
Lrrd1	A	G	5: 3,901,147 (GRCm39)	D484G	probably benign	Het
Ms4a14	A	T	19: 11,280,729 (GRCm39)	S610T	probably benign	Het
Myo5b	A	G	18: 74,856,841 (GRCm39)	N1282S	probably benign	Het
Naip5	A	T	13: 100,358,784 (GRCm39)	D817E	possibly damaging	Het
Ndufs2	A	G	1: 171,074,629 (GRCm39)	L10P	possibly damaging	Het
Nxn	T	C	11: 76,169,362 (GRCm39)	D139G	probably damaging	Het
Or3a1b	A	G	11: 74,012,612 (GRCm39)	T166A	probably benign	Het
Or5b105	G	A	19: 13,080,272 (GRCm39)	T132I	possibly damaging	Het
Or6aa1	A	C	7: 86,043,973 (GRCm39)	H244Q	probably damaging	Het
Pcdhb22	G	T	18: 37,652,794 (GRCm39)	V164F	probably damaging	Het
Plch2	T	C	4: 155,084,992 (GRCm39)	T417A	probably damaging	Het
Prcp	G	T	7: 92,567,035 (GRCm39)		probably null	Het
Rasgrp2	A	G	19: 6,454,694 (GRCm39)	Y178C	probably damaging	Het
Rasgrp2	A	G	19: 6,463,907 (GRCm39)	N535S	probably benign	Het
Rgs20	G	T	1: 4,980,793 (GRCm39)	Y208*	probably null	Het
Slc39a10	A	G	1: 46,849,223 (GRCm39)	C798R	probably damaging	Het
Slco2b1	A	G	7: 99,335,265 (GRCm39)	S172P	probably benign	Het
Styk1	GTCTCTTCATGATT	GT	6: 131,278,610 (GRCm39)		probably benign	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Tmc2	T	A	2: 130,089,881 (GRCm39)	I622N	probably damaging	Het
Trav16n	A	G	14: 53,588,559 (GRCm39)	S5G	probably benign	Het
Tti1	C	T	2: 157,849,304 (GRCm39)	R645H	probably benign	Het
Ttll3	A	G	6: 113,386,114 (GRCm39)	D649G	probably damaging	Het
Vcam1	C	T	3: 115,922,287 (GRCm39)	V79I	possibly damaging	Het
Vmn1r211	T	C	13: 23,036,506 (GRCm39)	I54V	probably benign	Het
Vmn1r238	A	G	18: 3,122,577 (GRCm39)	F279S	probably benign	Het
Vps33a	A	T	5: 123,669,135 (GRCm39)	W589R	possibly damaging	Het
Zic1	A	G	9: 91,246,875 (GRCm39)	S66P	probably 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
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
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
Z1176:Lrrtm2	UTSW	18	35,347,712 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTGAGCATTGCTTCACTTAAC -3'
(R):5'- CCTCCCACTTTGAGAAGAATTAGGC -3'

Sequencing Primer
(F):5'- CAAGTCTCCACTTGGTTTG -3'
(R):5'- GGCAGTGCTCAATGATTCAGAACC -3'

Posted On

2022-10-06