Mutagenetix > Incidental Mutation

Incidental Mutation 'R5423:Lrrtm3'

426711

Institutional Source

Beutler Lab

Gene Symbol

Lrrtm3

Ensembl Gene

ENSMUSG00000042846

Gene Name

leucine rich repeat transmembrane neuronal 3

Synonyms

9630044H04Rik

MMRRC Submission

042989-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5423 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63764276-63926034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63923931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 412 (D412G)

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

possibly damaging
Transcript: ENSMUST00000105439
AA Change: D412G

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101079
Gene: ENSMUSG00000042846
AA Change: D412G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133588

SMART Domains

Protein: ENSMUSP00000114794
Gene: ENSMUSG00000042846

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
LRRNT	40	72	2.11e-3	SMART
LRR_TYP	91	114	2.09e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148712

Meta Mutation Damage Score

0.1340

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Adamts9	A	G	6: 92,857,678 (GRCm39)	I289T	possibly damaging	Het
Ak4	T	G	4: 101,317,760 (GRCm39)	I110S	probably damaging	Het
Arhgap9	T	G	10: 127,165,418 (GRCm39)	I609S	probably damaging	Het
Arid4a	C	A	12: 71,116,634 (GRCm39)	S242*	probably null	Het
Ceacam1	T	G	7: 25,173,951 (GRCm39)	I235L	probably benign	Het
Chil3	T	C	3: 106,055,978 (GRCm39)	D365G	probably damaging	Het
Ckap2	A	C	8: 22,667,212 (GRCm39)	S216R	probably benign	Het
Cyp2e1	G	T	7: 140,350,031 (GRCm39)	V239L	probably benign	Het
Dnah7b	T	A	1: 46,397,431 (GRCm39)	M3954K	probably benign	Het
Ercc6l2	A	T	13: 64,020,072 (GRCm39)		probably benign	Het
Etv5	T	C	16: 22,202,404 (GRCm39)	D468G	probably damaging	Het
Fbxo44	T	A	4: 148,238,686 (GRCm39)	I213F	probably benign	Het
Gm5084	A	G	13: 60,360,356 (GRCm39)		noncoding transcript	Het
Gpr17	G	A	18: 32,080,694 (GRCm39)	T123I	probably damaging	Het
Grin3a	A	G	4: 49,770,376 (GRCm39)		probably benign	Het
H2-D1	T	G	17: 35,484,883 (GRCm39)	L248R	probably damaging	Het
Hmcn1	T	C	1: 150,577,723 (GRCm39)	I2013V	probably damaging	Het
Hp1bp3	A	T	4: 137,953,208 (GRCm39)	D84V	probably damaging	Het
Ift140	T	C	17: 25,252,059 (GRCm39)	F33S	probably damaging	Het
Inhbc	C	G	10: 127,193,296 (GRCm39)	C240S	probably damaging	Het
Iqgap1	T	A	7: 80,449,610 (GRCm39)	E62V	probably damaging	Het
Kcna4	G	A	2: 107,126,151 (GRCm39)	W295*	probably null	Het
Kdm4a	C	T	4: 117,996,105 (GRCm39)	A975T	probably damaging	Het
Midn	A	C	10: 79,991,027 (GRCm39)	I346L	probably benign	Het
Ndufa10	C	T	1: 92,390,042 (GRCm39)	D259N	probably benign	Het
Nefh	C	A	11: 4,890,985 (GRCm39)	A545S	possibly damaging	Het
Prpf8	A	G	11: 75,399,784 (GRCm39)	Y2281C	probably damaging	Het
Psip1	G	A	4: 83,378,367 (GRCm39)		probably benign	Het
Ptpro	G	T	6: 137,419,705 (GRCm39)	A184S	probably damaging	Het
Rab37	T	A	11: 115,047,853 (GRCm39)	I65K	possibly damaging	Het
Rasgrp4	T	C	7: 28,844,561 (GRCm39)	L247P	probably damaging	Het
Rnf20	T	C	4: 49,644,620 (GRCm39)	V295A	probably damaging	Het
Serpina3g	A	G	12: 104,204,253 (GRCm39)		probably benign	Het
Shox2	A	G	3: 66,881,087 (GRCm39)		probably benign	Het
Skint6	T	G	4: 112,707,937 (GRCm39)	D977A	possibly damaging	Het
Slc25a23	C	T	17: 57,360,597 (GRCm39)	V248M	probably damaging	Het
Slco1a7	T	A	6: 141,690,188 (GRCm39)	K188N	probably damaging	Het
Smg1	A	T	7: 117,745,294 (GRCm39)	D3008E	possibly damaging	Het
St18	A	G	1: 6,872,840 (GRCm39)	S192G	possibly damaging	Het
Supt20	T	A	3: 54,616,746 (GRCm39)	V306E	probably damaging	Het
T	T	C	17: 8,660,597 (GRCm39)	Y403H	probably damaging	Het
Tars3	C	A	7: 65,333,567 (GRCm39)	N588K	probably benign	Het
Tmem132c	T	C	5: 127,640,907 (GRCm39)	V1026A	probably benign	Het
Trpv4	T	C	5: 114,774,506 (GRCm39)	T193A	probably benign	Het
Ubqln4	A	G	3: 88,470,506 (GRCm39)	N326S	probably damaging	Het
Uggt2	G	A	14: 119,256,898 (GRCm39)	T1112I	probably damaging	Het
Vasn	C	T	16: 4,466,284 (GRCm39)	P77L	probably benign	Het
Vps9d1	A	C	8: 123,974,704 (GRCm39)		probably null	Het
Washc4	C	A	10: 83,415,418 (GRCm39)	Q803K	possibly damaging	Het
Zcchc2	C	T	1: 105,958,430 (GRCm39)	T967I	probably damaging	Het
Zfp874a	G	A	13: 67,590,473 (GRCm39)	L404F	possibly damaging	Het
Zscan30	T	C	18: 24,104,773 (GRCm39)		noncoding transcript	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
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
R7494:Lrrtm3	UTSW	10	63,924,958 (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'- TACATAAAATTCCTGGGTGCCTG -3'
(R):5'- GGTTAACGTGATCGATGCGG -3'

Sequencing Primer
(F):5'- CCTGGAGTCATCTGCTTGAGC -3'
(R):5'- CGGTGAAGAACTACAGCATCTGTG -3'

Posted On

2016-09-01