Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01475:Lrit2'

88438

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrit2

Ensembl Gene

ENSMUSG00000043418

Gene Name

leucine-rich repeat, immunoglobulin-like and transmembrane domains 2

Synonyms

A930010E21Rik, Lrrc22

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

IGL01475

Quality Score

Status

Chromosome

Chromosomal Location

37067929-37073743 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37069094 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 243 (H243Q)

Ref Sequence

ENSEMBL: ENSMUSP00000056642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057176] [ENSMUST00000120052]

Predicted Effect

probably damaging
Transcript: ENSMUST00000057176
AA Change: H243Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056642
Gene: ENSMUSG00000043418
AA Change: H243Q

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	23	59	7.74e-2	SMART
LRR	78	101	9.96e-1	SMART
LRR_TYP	102	125	8.94e-3	SMART
LRR	126	149	2.03e1	SMART
LRR_TYP	150	173	7.67e-2	SMART
LRRCT	200	251	7.12e-7	SMART
IGc2	265	334	2.05e-9	SMART
FN3	362	443	5.94e0	SMART
transmembrane domain	463	485	N/A	INTRINSIC
low complexity region	538	546	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120052

SMART Domains

Protein: ENSMUSP00000113964
Gene: ENSMUSG00000041044

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LRRNT	22	63	1.97e-3	SMART
LRR	82	105	1.03e1	SMART
LRR	106	129	3e1	SMART
LRR	130	152	1.12e1	SMART
LRR_TYP	154	177	4.47e-3	SMART
LRRCT	201	253	2.04e-7	SMART
IGc2	267	336	6.55e-8	SMART
FN3	429	506	2.22e0	SMART
transmembrane domain	531	553	N/A	INTRINSIC
low complexity region	581	595	N/A	INTRINSIC
low complexity region	597	608	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224104

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	A	T	14: 59,142,803	N15K	possibly damaging	Het
4833427G06Rik	A	G	9: 51,100,058	I93T	probably benign	Het
Adam32	A	T	8: 24,872,648	I587K	probably damaging	Het
Adamtsl4	T	C	3: 95,677,533	S942G	probably benign	Het
Adamtsl5	A	G	10: 80,344,916	F104S	probably damaging	Het
Adgrf5	A	G	17: 43,450,354	D980G	probably benign	Het
Apba1	A	T	19: 23,917,586	D462V	possibly damaging	Het
Arhgef11	T	C	3: 87,727,126		probably benign	Het
Cd74	T	C	18: 60,810,321		probably benign	Het
Cdc16	T	C	8: 13,781,542	S592P	probably benign	Het
Cenpj	A	G	14: 56,565,045	M21T	possibly damaging	Het
Col28a1	A	G	6: 8,103,521	L425S	probably damaging	Het
Dbt	C	T	3: 116,520,259	T25I	possibly damaging	Het
Dguok	C	A	6: 83,490,570	M98I	possibly damaging	Het
Dmxl1	T	C	18: 49,871,714	L943P	probably damaging	Het
Eloa	G	A	4: 136,010,920	S243L	probably benign	Het
Enkur	C	A	2: 21,196,719	A52S	probably damaging	Het
Ezh1	T	C	11: 101,192,961	E744G	probably damaging	Het
Fbxw11	T	C	11: 32,722,101	S190P	possibly damaging	Het
Foxb1	G	A	9: 69,759,268		probably benign	Het
Gabra5	C	T	7: 57,408,684	G439S	probably damaging	Het
Gtf2h2	A	T	13: 100,481,033	V207D	probably damaging	Het
Krt76	A	G	15: 101,888,513	V317A	probably benign	Het
Lair1	C	A	7: 4,009,684		probably benign	Het
Mast3	C	T	8: 70,779,530	A1268T	probably damaging	Het
Matn2	G	A	15: 34,316,525	M4I	possibly damaging	Het
Mob1b	T	A	5: 88,749,643	F137I	probably damaging	Het
Mreg	T	C	1: 72,164,166		probably benign	Het
Nom1	T	C	5: 29,446,274	V684A	possibly damaging	Het
Pate2	T	A	9: 35,669,702	L1Q	probably null	Het
Pla2r1	T	C	2: 60,441,081		probably benign	Het
Plxna1	A	G	6: 89,354,888	F447L	possibly damaging	Het
Pno1	A	T	11: 17,210,992	I114N	probably damaging	Het
Ppp1r7	T	G	1: 93,360,818		probably benign	Het
Pprc1	T	A	19: 46,071,529	Y1503N	probably benign	Het
Rab30	T	C	7: 92,835,722	V132A	probably damaging	Het
Slc15a4	T	C	5: 127,601,960	T439A	probably benign	Het
Slc29a3	A	G	10: 60,723,817	V186A	possibly damaging	Het
Stxbp5l	G	A	16: 37,345,092	T88I	possibly damaging	Het
Tarbp1	A	G	8: 126,433,962	V1250A	probably benign	Het
Tcte2	A	T	17: 13,717,562		probably benign	Het
Trp53bp1	A	T	2: 121,270,319		probably null	Het
Trpc4	A	T	3: 54,266,407	L407F	possibly damaging	Het
Vmn1r6	T	C	6: 57,002,911	F164S	probably damaging	Het
Zfp579	C	A	7: 4,994,744	R56L	probably benign	Het

Other mutations in Lrit2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Lrit2	APN	14	37071963	missense	probably benign	0.31
IGL02080:Lrit2	APN	14	37069074	missense	probably damaging	0.99
IGL02141:Lrit2	APN	14	37068074	unclassified	probably benign
IGL02479:Lrit2	APN	14	37072278	missense	probably damaging	0.99
IGL02715:Lrit2	APN	14	37072548	missense	probably benign	0.00
R0114:Lrit2	UTSW	14	37068045	unclassified	probably null
R1344:Lrit2	UTSW	14	37068556	missense	probably benign	0.32
R1529:Lrit2	UTSW	14	37068827	missense	probably benign	0.12
R1641:Lrit2	UTSW	14	37069148	missense	probably benign	0.34
R2105:Lrit2	UTSW	14	37071956	missense	probably damaging	1.00
R4365:Lrit2	UTSW	14	37072119	missense	probably damaging	1.00
R4645:Lrit2	UTSW	14	37072475	missense	probably benign
R5226:Lrit2	UTSW	14	37072353	missense	probably damaging	1.00
R5377:Lrit2	UTSW	14	37069183	missense	possibly damaging	0.59
R5387:Lrit2	UTSW	14	37072259	missense	probably damaging	1.00
R5840:Lrit2	UTSW	14	37069005	missense	possibly damaging	0.64
R5881:Lrit2	UTSW	14	37072235	missense	probably benign	0.02
R6499:Lrit2	UTSW	14	37068810	missense	probably damaging	0.98
R6863:Lrit2	UTSW	14	37071944	missense	probably damaging	0.99
R7307:Lrit2	UTSW	14	37072199	missense	probably benign	0.00
R7316:Lrit2	UTSW	14	37068858	missense	probably damaging	1.00
R7491:Lrit2	UTSW	14	37068910	missense	possibly damaging	0.83
R7525:Lrit2	UTSW	14	37072493	missense	possibly damaging	0.76
R7640:Lrit2	UTSW	14	37072124	missense	probably damaging	1.00

Posted On

2013-11-18