Mutagenetix > Incidental Mutation

Incidental Mutation 'R0924:Lrrtm2'

83121

Institutional Source

Beutler Lab

Gene Symbol

Lrrtm2

Ensembl Gene

ENSMUSG00000071862

Gene Name

leucine rich repeat transmembrane neuronal 2

Synonyms

C630011A14Rik

MMRRC Submission

039071-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0924 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35342056-35348077 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35346808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 165 (R165C)

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: R165C

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

SMART Domains

Protein: ENSMUSP00000089225
Gene: ENSMUSG00000071862
AA Change: R165C

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

0.4268

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 96.2%

Validation Efficiency

97% (69/71)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	A	T	8: 114,432,028 (GRCm39)		probably null	Het
Ahcyl2	A	C	6: 29,870,627 (GRCm39)		probably null	Het
Ajap1	T	A	4: 153,470,929 (GRCm39)	I293F	probably damaging	Het
Akap10	T	C	11: 61,795,689 (GRCm39)		probably benign	Het
Aldh3b2	T	C	19: 4,029,350 (GRCm39)	V241A	probably benign	Het
Anxa6	A	T	11: 54,885,214 (GRCm39)		probably null	Het
Atpaf1	T	A	4: 115,652,635 (GRCm39)	V12D	probably damaging	Het
Aurkb	C	A	11: 68,936,822 (GRCm39)	Y12*	probably null	Het
Bicdl1	A	G	5: 115,799,587 (GRCm39)		probably benign	Het
Bnc1	A	T	7: 81,628,156 (GRCm39)		probably benign	Het
Bpi	A	G	2: 158,103,346 (GRCm39)	I114V	possibly damaging	Het
Cacna1c	A	T	6: 118,652,857 (GRCm39)	I772N	probably damaging	Het
Cacna2d1	A	G	5: 16,570,860 (GRCm39)	N1045D	possibly damaging	Het
Ccrl2	A	G	9: 110,885,036 (GRCm39)	V154A	probably benign	Het
Celsr3	C	A	9: 108,723,224 (GRCm39)	Q2831K	possibly damaging	Het
Cplane1	T	C	15: 8,280,554 (GRCm39)		probably benign	Het
Cul3	A	T	1: 80,267,835 (GRCm39)	M102K	probably damaging	Het
Cwf19l2	T	C	9: 3,441,047 (GRCm39)		probably benign	Het
Dlg5	G	A	14: 24,185,645 (GRCm39)	P1920L	probably damaging	Het
Dnah2	T	C	11: 69,312,134 (GRCm39)	H4393R	probably damaging	Het
Eif2b3	T	A	4: 116,938,775 (GRCm39)	V408D	possibly damaging	Het
Eml3	T	C	19: 8,910,675 (GRCm39)		probably null	Het
Enpp2	T	C	15: 54,770,355 (GRCm39)		probably benign	Het
Fcgbpl1	A	T	7: 27,839,555 (GRCm39)	Y456F	probably damaging	Het
Gm14178	T	A	11: 99,638,326 (GRCm39)	T18S		Het
H2bc12	G	A	13: 22,220,210 (GRCm39)	D52N	probably damaging	Het
H2-M11	A	G	17: 36,860,106 (GRCm39)	M324V	probably benign	Het
H2-T13	A	T	17: 36,394,824 (GRCm39)	V33E	probably damaging	Het
Hdac10	T	C	15: 89,010,065 (GRCm39)	T298A	probably benign	Het
Hepacam	A	C	9: 37,295,224 (GRCm39)		probably benign	Het
Hmx3	A	T	7: 131,144,813 (GRCm39)	H41L	probably benign	Het
Ifi27l2a	A	G	12: 103,408,639 (GRCm39)	V68A	probably damaging	Het
Itga11	A	G	9: 62,683,956 (GRCm39)	E1079G	probably benign	Het
Krt6a	T	C	15: 101,599,235 (GRCm39)		probably benign	Het
L1td1	A	G	4: 98,625,862 (GRCm39)	N686D	probably damaging	Het
Macf1	G	T	4: 123,279,271 (GRCm39)	A3910E	probably damaging	Het
Muc5ac	A	T	7: 141,361,252 (GRCm39)	Y1521F	possibly damaging	Het
Myo7a	A	T	7: 97,747,463 (GRCm39)	I129N	probably damaging	Het
Ncam1	A	T	9: 49,473,476 (GRCm39)		probably benign	Het
Nckap1	A	T	2: 80,384,593 (GRCm39)	C114S	probably benign	Het
Nf1	T	G	11: 79,344,692 (GRCm39)	W1260G	probably damaging	Het
Or3a1d	T	C	11: 74,237,624 (GRCm39)	Y262C	probably damaging	Het
Or6b2b	A	G	1: 92,419,127 (GRCm39)	S117P	possibly damaging	Het
Or6c76b	A	T	10: 129,692,515 (GRCm39)	I43F	probably damaging	Het
Oxtr	A	T	6: 112,466,598 (GRCm39)		probably null	Het
Pabpc4	C	T	4: 123,188,458 (GRCm39)	R356C	possibly damaging	Het
Pcbp2	T	A	15: 102,398,197 (GRCm39)	D182E	probably damaging	Het
Pgm2	A	T	5: 64,269,490 (GRCm39)	I526F	possibly damaging	Het
Rab43	A	T	6: 87,769,752 (GRCm39)	Y151*	probably null	Het
Rbm19	A	G	5: 120,264,269 (GRCm39)	E343G	probably benign	Het
Rel	A	T	11: 23,692,439 (GRCm39)	D531E	probably benign	Het
Rfx4	T	A	10: 84,704,291 (GRCm39)	V262E	probably damaging	Het
Rnf31	T	C	14: 55,830,459 (GRCm39)		probably benign	Het
Robo3	T	A	9: 37,340,778 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,672,178 (GRCm39)	L1431P	probably damaging	Het
Sema3d	A	C	5: 12,513,183 (GRCm39)	D51A	possibly damaging	Het
Sema6a	A	G	18: 47,381,559 (GRCm39)	L996P	probably damaging	Het
Sh2d4a	T	A	8: 68,787,775 (GRCm39)	F294I	probably damaging	Het
Sorl1	T	A	9: 41,919,470 (GRCm39)		probably benign	Het
Sox1ot	G	T	8: 12,480,455 (GRCm39)		noncoding transcript	Het
Spsb3	A	T	17: 25,110,358 (GRCm39)	N395I	probably damaging	Het
Sptan1	A	G	2: 29,906,040 (GRCm39)	N1662S	probably damaging	Het
Srd5a2	G	T	17: 74,331,516 (GRCm39)	N160K	probably damaging	Het
Sting1	A	G	18: 35,868,154 (GRCm39)		probably null	Het
Tmem132d	G	A	5: 128,061,503 (GRCm39)		probably benign	Het
Unc80	A	T	1: 66,549,800 (GRCm39)	Q686L	possibly damaging	Het
Vmn2r93	A	G	17: 18,524,443 (GRCm39)	T146A	probably benign	Het
Wdr19	A	G	5: 65,413,782 (GRCm39)		probably benign	Het
Zfp646	C	T	7: 127,482,982 (GRCm39)	Q1500*	probably null	Het
Zfp683	T	C	4: 133,783,138 (GRCm39)	Y201H	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
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

Predicted Primers

PCR Primer
(F):5'- AGTGTGTGCAGACTGCTTAGCC -3'
(R):5'- TGCCAGCTTCAGTCAACTCACC -3'

Sequencing Primer
(F):5'- AGACTGCTTAGCCGGAGG -3'
(R):5'- AGACGCTTTCCAAGGACTG -3'

Posted On

2013-11-08