Mutagenetix > Incidental Mutation

Incidental Mutation 'R9193:Lrrtm3'

697818

Institutional Source

Beutler Lab

Gene Symbol

Lrrtm3

Ensembl Gene

ENSMUSG00000042846

Gene Name

leucine rich repeat transmembrane neuronal 3

Synonyms

9630044H04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9193 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63764276-63926034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63765883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 568 (I568N)

Ref Sequence

ENSEMBL: ENSMUSP00000101079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075099] [ENSMUST00000079279] [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 benign
Transcript: ENSMUST00000079279

Predicted Effect

probably damaging
Transcript: ENSMUST00000105439
AA Change: I568N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101079
Gene: ENSMUSG00000042846
AA Change: I568N

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak1	A	T	2: 32,520,391 (GRCm39)	K79M	probably benign	Het
Amy1	T	C	3: 113,356,278 (GRCm39)	K293E	probably benign	Het
Bcl2l10	A	G	9: 75,255,333 (GRCm39)	Q50R	probably benign	Het
Bpifa6	G	A	2: 153,826,740 (GRCm39)	G35D	probably benign	Het
Cachd1	C	A	4: 100,634,339 (GRCm39)	P5Q	unknown	Het
Capn13	A	T	17: 73,652,191 (GRCm39)	I266N	probably damaging	Het
Chil3	A	G	3: 106,063,081 (GRCm39)	S170P	possibly damaging	Het
Ckap4	A	G	10: 84,363,350 (GRCm39)	I571T	probably damaging	Het
Col14a1	A	G	15: 55,242,964 (GRCm39)	M371V	unknown	Het
Dag1	A	G	9: 108,085,467 (GRCm39)	L558P	possibly damaging	Het
Edem3	G	A	1: 151,694,270 (GRCm39)	E868K	probably benign	Het
Eif3k	T	C	7: 28,673,624 (GRCm39)	Y150C	probably damaging	Het
Farp1	T	C	14: 121,518,281 (GRCm39)	I988T	probably benign	Het
Fat3	A	G	9: 15,910,248 (GRCm39)	M1918T	probably benign	Het
Gba2	A	G	4: 43,578,112 (GRCm39)	I79T	probably benign	Het
Gbp8	T	C	5: 105,179,169 (GRCm39)	D110G	probably damaging	Het
Gm57858	G	T	3: 36,089,428 (GRCm39)	N165K	probably benign	Het
H2-M2	T	A	17: 37,793,428 (GRCm39)	M193L	probably benign	Het
H2-T13	A	G	17: 36,391,956 (GRCm39)	V39A	possibly damaging	Het
Ighv7-1	T	A	12: 113,860,110 (GRCm39)	D94V	probably damaging	Het
Il2ra	T	C	2: 11,689,202 (GRCm39)	F244L	possibly damaging	Het
Jag1	A	T	2: 136,931,764 (GRCm39)	H602Q	probably null	Het
Kidins220	A	T	12: 25,036,966 (GRCm39)	I16F	possibly damaging	Het
Klb	A	G	5: 65,529,368 (GRCm39)	T299A	possibly damaging	Het
Lama4	A	G	10: 38,951,444 (GRCm39)	K1063R	probably benign	Het
Lrit2	A	G	14: 36,794,550 (GRCm39)	E538G	possibly damaging	Het
Lrrc7	A	T	3: 158,059,011 (GRCm39)	L32*	probably null	Het
Myom1	A	G	17: 71,343,295 (GRCm39)	D164G	probably damaging	Het
Naaladl2	T	C	3: 23,900,742 (GRCm39)	D696G	probably damaging	Het
Nalcn	A	T	14: 123,545,792 (GRCm39)	L1073*	probably null	Het
Nid2	T	C	14: 19,853,278 (GRCm39)	S1166P	probably damaging	Het
Nlrp4c	T	C	7: 6,095,621 (GRCm39)	V833A	probably benign	Het
Nyap2	T	C	1: 81,275,712 (GRCm39)	S619P	probably damaging	Het
Or10d5j	T	C	9: 39,867,878 (GRCm39)	M118V	probably damaging	Het
Or2a20	A	T	6: 43,194,086 (GRCm39)	T80S	probably benign	Het
Or4a71	A	G	2: 89,357,987 (GRCm39)	Y256H	probably damaging	Het
Or8k16	C	A	2: 85,520,644 (GRCm39)	Y290*	probably null	Het
P3h2	T	C	16: 25,923,991 (GRCm39)	N148S	probably benign	Het
P4htm	A	G	9: 108,460,081 (GRCm39)	M231T	probably damaging	Het
Pank1	T	A	19: 34,804,634 (GRCm39)	K349I	possibly damaging	Het
Pgam5	A	G	5: 110,413,466 (GRCm39)	Y210H	probably benign	Het
Prb1b	T	C	6: 132,288,996 (GRCm39)	H276R	unknown	Het
Prl2a1	T	A	13: 27,992,535 (GRCm39)	C220S	probably damaging	Het
Psca	C	T	15: 74,587,932 (GRCm39)	Q39*	probably null	Het
Rgs20	A	T	1: 5,091,067 (GRCm39)	M121K	possibly damaging	Het
S100z	C	T	13: 95,613,883 (GRCm39)	V76M	possibly damaging	Het
Slc30a10	T	C	1: 185,195,034 (GRCm39)	I282T	probably damaging	Het
Slc30a3	T	C	5: 31,246,088 (GRCm39)	Y214C	probably damaging	Het
Sox5	C	T	6: 143,790,570 (GRCm39)	E497K	probably benign	Het
Spata31g1	A	G	4: 42,971,519 (GRCm39)	D284G	probably benign	Het
Sptbn1	C	T	11: 30,087,551 (GRCm39)	E963K	possibly damaging	Het
Srl	T	C	16: 4,311,723 (GRCm39)	E465G	possibly damaging	Het
Tacc2	T	C	7: 130,228,304 (GRCm39)	M1663T	probably benign	Het
Tas2r119	T	G	15: 32,177,932 (GRCm39)	V166G	probably benign	Het
Tcf7l1	A	G	6: 72,611,205 (GRCm39)	V191A	probably damaging	Het
Thap7	A	T	16: 17,346,901 (GRCm39)	I92K	probably damaging	Het
Tnfsf10	A	G	3: 27,371,407 (GRCm39)	T38A	possibly damaging	Het
Trav7-5	C	G	14: 53,768,615 (GRCm39)	A61G	probably benign	Het
Trim30c	C	T	7: 104,031,553 (GRCm39)	V421I	probably benign	Het
Ugt2b38	A	T	5: 87,571,729 (GRCm39)	M101K	probably benign	Het
Vmn1r44	T	A	6: 89,870,565 (GRCm39)	C104S	probably damaging	Het
Wdr74	T	A	19: 8,715,240 (GRCm39)	V133E	probably damaging	Het
Zfp735	A	T	11: 73,580,600 (GRCm39)	Y33F	possibly damaging	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
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
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'- GCACAACTTAGCTAGTTACAAAGT -3'
(R):5'- ATAACTGACTTTTCTCATGTCATCTC -3'

Sequencing Primer
(F):5'- GTACTCAAGAGTCGCAATG -3'
(R):5'- TTACTGTGGGGTCCATCA -3'

Posted On

2022-02-07