Mutagenetix > Incidental Mutation

Incidental Mutation 'R7494:Lrrtm3'

580994

Institutional Source

Beutler Lab

Gene Symbol

Lrrtm3

Ensembl Gene

ENSMUSG00000042846

Gene Name

leucine rich repeat transmembrane neuronal 3

Synonyms

9630044H04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7494 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63764276-63926034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63924958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 70 (Y70H)

Ref Sequence

ENSEMBL: ENSMUSP00000101079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075099] [ENSMUST00000105439] [ENSMUST00000105440] [ENSMUST00000105441]

AlphaFold

Q8BZ81

Predicted Effect

probably benign
Transcript: ENSMUST00000075099

SMART Domains

Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843

Domain	Start	End	E-Value	Type
Pfam:Vinculin	17	363	5.1e-66	PFAM
Pfam:Vinculin	324	856	1e-175	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105439
AA Change: Y70H

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

SMART Domains

Protein: ENSMUSP00000101079
Gene: ENSMUSG00000042846
AA Change: Y70H

Domain	Start	End	E-Value	Type
low complexity region	13	27	N/A	INTRINSIC
LRRNT	33	65	2.11e-3	SMART
LRR_TYP	84	107	2.09e-3	SMART
LRR	108	131	6.77e0	SMART
LRR_TYP	132	155	2.71e-2	SMART
LRR_TYP	156	179	1.47e-3	SMART
LRR	180	203	1.43e-1	SMART
LRR	204	227	1.29e1	SMART
LRR	228	251	2.14e1	SMART
LRR	252	276	1.45e1	SMART
LRR	277	300	2.02e-1	SMART
Blast:LRRCT	312	361	6e-16	BLAST
transmembrane domain	421	443	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105440

SMART Domains

Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843

Domain	Start	End	E-Value	Type
Pfam:Vinculin	17	363	5.1e-66	PFAM
Pfam:Vinculin	324	856	1e-175	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105441

SMART Domains

Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843

Domain	Start	End	E-Value	Type
Pfam:Vinculin	17	363	5.1e-66	PFAM
Pfam:Vinculin	324	856	1e-175	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	A	11: 110,099,571 (GRCm39)	T992I	possibly damaging	Het
Adamts10	T	A	17: 33,768,352 (GRCm39)	C841*	probably null	Het
AI661453	C	T	17: 47,779,105 (GRCm39)	P944S	unknown	Het
Als2	G	A	1: 59,222,325 (GRCm39)		probably null	Het
Anapc2	A	G	2: 25,166,376 (GRCm39)	E381G	possibly damaging	Het
Ank3	T	C	10: 69,824,756 (GRCm39)	Y1142H		Het
Apip	A	T	2: 102,922,896 (GRCm39)	N238I	probably benign	Het
Cblc	A	T	7: 19,526,737 (GRCm39)	V165D	possibly damaging	Het
Cep295nl	T	A	11: 118,224,758 (GRCm39)	M29L	probably benign	Het
Clec12a	A	G	6: 129,330,362 (GRCm39)	I47V	possibly damaging	Het
Dpp9	T	C	17: 56,507,619 (GRCm39)	Y350C	probably damaging	Het
Enpp2	C	T	15: 54,773,554 (GRCm39)	G56R	probably damaging	Het
Epsti1	G	T	14: 78,166,194 (GRCm39)	E82D	probably benign	Het
Eri2	C	A	7: 119,385,304 (GRCm39)	C399F	probably damaging	Het
Ern1	T	C	11: 106,298,361 (GRCm39)	T672A	probably damaging	Het
Fbxo21	T	A	5: 118,138,388 (GRCm39)	C445S	possibly damaging	Het
Folh1	G	T	7: 86,368,907 (GRCm39)	T740K	probably damaging	Het
Gapt	A	G	13: 110,490,262 (GRCm39)	Y134H	probably damaging	Het
Gm19410	T	C	8: 36,262,684 (GRCm39)	S874P	probably damaging	Het
Gm2431	G	A	7: 141,811,547 (GRCm39)	P119L	unknown	Het
Gzmc	G	A	14: 56,469,785 (GRCm39)	Q172*	probably null	Het
Hoxa1	C	A	6: 52,134,571 (GRCm39)	V211F	probably damaging	Het
Hyou1	G	T	9: 44,300,706 (GRCm39)	R925L	probably benign	Het
Ift70a1	A	C	2: 75,810,242 (GRCm39)	F614V	probably damaging	Het
Ilvbl	A	G	10: 78,414,857 (GRCm39)	Y240C	possibly damaging	Het
Lama1	T	A	17: 68,118,441 (GRCm39)	F2551Y		Het
Naa38	T	A	11: 69,287,126 (GRCm39)	C69S	probably damaging	Het
Or12e7	T	A	2: 87,287,912 (GRCm39)	N134K	probably damaging	Het
Or2t46	T	C	11: 58,472,038 (GRCm39)	S123P	probably damaging	Het
Or8k25	A	T	2: 86,243,592 (GRCm39)	I268N	probably benign	Het
Panx3	A	G	9: 37,572,608 (GRCm39)	L314P	probably damaging	Het
Polr2f	T	C	15: 79,028,865 (GRCm39)		probably null	Het
Prkcd	C	A	14: 30,331,150 (GRCm39)	R75L	probably benign	Het
Psap	A	C	10: 60,135,275 (GRCm39)	L313F	probably benign	Het
Psen1	T	A	12: 83,775,017 (GRCm39)	C263S	probably benign	Het
Ptma	GGAAGAAG	GGAAGAAGAAG	1: 86,457,261 (GRCm39)		probably benign	Het
Pura	T	A	18: 36,420,942 (GRCm39)	M243K	probably damaging	Het
Sec16b	T	C	1: 157,388,369 (GRCm39)	S579P	probably benign	Het
Septin1	T	A	7: 126,814,122 (GRCm39)	E338V	probably damaging	Het
Sgms1	A	G	19: 32,107,091 (GRCm39)	F255L	probably benign	Het
Slc4a2	A	G	5: 24,637,862 (GRCm39)	T353A	possibly damaging	Het
Smg6	T	C	11: 74,820,449 (GRCm39)	V240A	probably benign	Het
Sntg2	T	G	12: 30,279,633 (GRCm39)	D340A	possibly damaging	Het
Sun1	C	T	5: 139,221,475 (GRCm39)	P553S	probably benign	Het
Tas2r140	T	C	6: 40,468,254 (GRCm39)	V28A	probably damaging	Het
Tfcp2l1	T	C	1: 118,592,686 (GRCm39)	F323S	probably damaging	Het
Thoc2l	T	C	5: 104,666,284 (GRCm39)	Y269H	possibly damaging	Het
Tpcn2	G	A	7: 144,832,586 (GRCm39)	T90I	possibly damaging	Het
Ttn	A	T	2: 76,720,321 (GRCm39)	Y6968*	probably null	Het
Vmn2r44	A	T	7: 8,386,122 (GRCm39)	L39*	probably null	Het

Other mutations in Lrrtm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Lrrtm3	APN	10	63,924,988 (GRCm39)	missense	probably damaging	1.00
IGL02026:Lrrtm3	APN	10	63,924,231 (GRCm39)	missense	probably damaging	1.00
IGL02452:Lrrtm3	APN	10	63,923,815 (GRCm39)	missense	probably damaging	0.98
IGL03145:Lrrtm3	APN	10	63,924,799 (GRCm39)	missense	probably benign	0.00
R1511:Lrrtm3	UTSW	10	63,924,804 (GRCm39)	missense	probably damaging	1.00
R1556:Lrrtm3	UTSW	10	63,923,928 (GRCm39)	missense	probably damaging	0.97
R1921:Lrrtm3	UTSW	10	63,924,157 (GRCm39)	missense	probably benign	0.37
R1933:Lrrtm3	UTSW	10	63,924,292 (GRCm39)	missense	possibly damaging	0.81
R2849:Lrrtm3	UTSW	10	63,924,810 (GRCm39)	missense	probably damaging	1.00
R4707:Lrrtm3	UTSW	10	63,923,781 (GRCm39)	missense	probably benign	0.42
R4785:Lrrtm3	UTSW	10	63,923,781 (GRCm39)	missense	probably benign	0.42
R5423:Lrrtm3	UTSW	10	63,923,931 (GRCm39)	missense	possibly damaging	0.81
R5559:Lrrtm3	UTSW	10	63,766,045 (GRCm39)	missense	probably benign	0.35
R6295:Lrrtm3	UTSW	10	63,765,913 (GRCm39)	missense	probably benign
R6301:Lrrtm3	UTSW	10	63,925,001 (GRCm39)	missense	probably benign	0.26
R6356:Lrrtm3	UTSW	10	63,765,943 (GRCm39)	missense	probably benign	0.13
R6799:Lrrtm3	UTSW	10	63,923,630 (GRCm39)	nonsense	probably null
R7419:Lrrtm3	UTSW	10	63,923,925 (GRCm39)	missense	probably damaging	1.00
R7694:Lrrtm3	UTSW	10	63,923,818 (GRCm39)	missense	probably benign	0.03
R7723:Lrrtm3	UTSW	10	63,924,427 (GRCm39)	missense	possibly damaging	0.69
R8197:Lrrtm3	UTSW	10	63,924,295 (GRCm39)	missense	possibly damaging	0.65
R8310:Lrrtm3	UTSW	10	63,925,487 (GRCm39)	critical splice donor site	probably null
R8879:Lrrtm3	UTSW	10	63,925,017 (GRCm39)	missense	possibly damaging	0.68
R9105:Lrrtm3	UTSW	10	63,924,336 (GRCm39)	missense	possibly damaging	0.82
R9193:Lrrtm3	UTSW	10	63,765,883 (GRCm39)	missense	probably damaging	1.00
R9223:Lrrtm3	UTSW	10	63,925,035 (GRCm39)	frame shift	probably null
R9224:Lrrtm3	UTSW	10	63,925,035 (GRCm39)	frame shift	probably null
R9314:Lrrtm3	UTSW	10	63,925,499 (GRCm39)	intron	probably benign
R9365:Lrrtm3	UTSW	10	63,923,943 (GRCm39)	missense	probably benign
R9628:Lrrtm3	UTSW	10	63,923,776 (GRCm39)	missense	probably damaging	0.98
R9799:Lrrtm3	UTSW	10	63,925,749 (GRCm39)	intron	probably benign
Z1176:Lrrtm3	UTSW	10	63,925,134 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTCACAGGTCTGAAGGTG -3'
(R):5'- CCAGGTTTCAATGTAATTAGGCTAC -3'

Sequencing Primer
(F):5'- CACAGGTCTGAAGGTGTTGTTAAG -3'
(R):5'- CTACTGCGAGGATCAGCTGTAG -3'

Posted On

2019-10-17