Mutagenetix > Incidental Mutation

Incidental Mutation 'R9799:Lrrtm3'

735110

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 #

R9799 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63764276-63926034 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 63925749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101081 (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 benign
Transcript: ENSMUST00000105439

SMART Domains

Protein: ENSMUSP00000101079
Gene: ENSMUSG00000042846

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,132,998 (GRCm39)	Y1309C	probably benign	Het
Adcy2	T	C	13: 68,768,961 (GRCm39)	T1056A	probably benign	Het
Adcy2	T	A	13: 68,805,489 (GRCm39)	R826S	probably damaging	Het
Agxt	T	C	1: 93,063,070 (GRCm39)	W19R	probably benign	Het
Akr1b8	G	A	6: 34,333,278 (GRCm39)	E52K	possibly damaging	Het
Arhgef10	T	C	8: 14,990,268 (GRCm39)	Y248H	probably damaging	Het
Arhgef38	T	C	3: 132,855,391 (GRCm39)	D232G	unknown	Het
Arid4b	T	C	13: 14,358,967 (GRCm39)	S668P	probably benign	Het
Ccdc136	T	A	6: 29,417,505 (GRCm39)	S775R	probably damaging	Het
Ccl25	T	C	8: 4,377,799 (GRCm39)	F20L	unknown	Het
Cimap1a	A	T	7: 140,430,706 (GRCm39)	E254D	probably benign	Het
Cr2	T	A	1: 194,842,988 (GRCm39)	H218L	probably benign	Het
Csnka2ip	T	C	16: 64,298,672 (GRCm39)	K564R	unknown	Het
Cyp2r1	A	G	7: 114,151,207 (GRCm39)	F371L	probably benign	Het
Ddx50	A	T	10: 62,469,812 (GRCm39)	F392I	probably damaging	Het
Dnah7a	T	C	1: 53,557,968 (GRCm39)	T2149A	probably benign	Het
Emx2	A	G	19: 59,448,036 (GRCm39)	Y130C	possibly damaging	Het
Erbin	T	C	13: 103,971,384 (GRCm39)	D744G	probably benign	Het
Gcm2	T	C	13: 41,258,924 (GRCm39)	N140S	probably damaging	Het
Gnai2	C	T	9: 107,512,380 (GRCm39)	A13T	probably benign	Het
Gpr150	T	C	13: 76,204,636 (GRCm39)	Y103C	possibly damaging	Het
Gstp2	A	G	19: 4,091,901 (GRCm39)		probably null	Het
Kdr	A	G	5: 76,117,752 (GRCm39)	I667T	possibly damaging	Het
Lpin1	A	G	12: 16,612,400 (GRCm39)	I534T		Het
Meiob	C	T	17: 25,042,574 (GRCm39)	T134I	probably benign	Het
Msh2	G	T	17: 88,024,933 (GRCm39)	A604S	probably damaging	Het
Mterf3	T	C	13: 67,062,780 (GRCm39)	T319A	possibly damaging	Het
Myo3a	C	T	2: 22,490,181 (GRCm39)	T1514I	probably damaging	Het
Ndfip2	T	C	14: 105,496,400 (GRCm39)	M98T	possibly damaging	Het
Nfatc2ip	A	G	7: 125,989,739 (GRCm39)	V215A	probably damaging	Het
Or52e19	A	T	7: 102,959,065 (GRCm39)	T46S	probably damaging	Het
Or8k41	A	T	2: 86,313,732 (GRCm39)	M118K	probably damaging	Het
Pabpc6	C	T	17: 9,888,114 (GRCm39)	E146K	probably damaging	Het
Pde3b	A	G	7: 114,122,613 (GRCm39)	Y727C	probably damaging	Het
Pemt	A	G	11: 59,937,174 (GRCm39)	F30L	possibly damaging	Het
Plch1	A	G	3: 63,605,591 (GRCm39)	S1438P	possibly damaging	Het
Pnma2	T	A	14: 67,154,009 (GRCm39)	H144Q	probably benign	Het
Ppp1r14b	A	G	19: 6,952,825 (GRCm39)	N70S	possibly damaging	Het
Psmd1	T	A	1: 86,054,236 (GRCm39)	M725K	possibly damaging	Het
Rab3gap1	A	G	1: 127,858,489 (GRCm39)	K533E	probably benign	Het
Rb1cc1	C	A	1: 6,315,126 (GRCm39)	H426Q	probably damaging	Het
Rimbp3	A	G	16: 17,027,641 (GRCm39)	E355G	possibly damaging	Het
Rxfp1	A	G	3: 79,578,182 (GRCm39)	F170L	probably damaging	Het
Sema3f	G	T	9: 107,562,562 (GRCm39)	A473E	probably damaging	Het
Serpinb3a	T	G	1: 106,974,892 (GRCm39)	I214L	probably benign	Het
Siglec1	G	T	2: 130,915,941 (GRCm39)	P1307Q	probably damaging	Het
Srd5a2	A	C	17: 74,331,535 (GRCm39)	I154S	possibly damaging	Het
Sugp1	A	G	8: 70,523,068 (GRCm39)	E537G	probably damaging	Het
Tbc1d30	T	C	10: 121,142,074 (GRCm39)	E91G	possibly damaging	Het
Tiparp	A	T	3: 65,454,973 (GRCm39)	N373Y	probably benign	Het
Tmem217	A	C	17: 29,745,232 (GRCm39)	I166S	probably damaging	Het
Top1	T	A	2: 160,563,406 (GRCm39)	Y746N	probably damaging	Het
Tubb2a	C	T	13: 34,260,607 (GRCm39)	D31N	probably benign	Het
Utrn	T	G	10: 12,585,736 (GRCm39)	I1014L	probably benign	Het
Vtn	T	C	11: 78,392,625 (GRCm39)	I401T	probably benign	Het
Wwc2	G	T	8: 48,321,595 (GRCm39)	H506Q	unknown	Het
Xab2	G	T	8: 3,668,182 (GRCm39)	T132N	probably benign	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
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
Z1176:Lrrtm3	UTSW	10	63,925,134 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTGTATTGTTCAAAGGTCGTCC -3'
(R):5'- TTCGCCGGACTATGGAATACAG -3'

Sequencing Primer
(F):5'- CAGCTGCAGTGGAGTGAGTC -3'
(R):5'- GCCTAGAGGAATACATTATGG -3'

Posted On

2022-11-14