Mutagenetix > Incidental Mutations

Incidental Mutation 'R6863:Lrit2'

535779

Institutional Source

Beutler Lab

Gene Symbol

Lrit2

Ensembl Gene

ENSMUSG00000043418

Gene Name

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

Synonyms

A930010E21Rik, Lrrc22

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R6863 (G1)

Quality Score

190.009

Status

Validated

Chromosome

Chromosomal Location

37067929-37073743 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37071944 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 322 (G322C)

Ref Sequence

ENSEMBL: ENSMUSP00000056642 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000057176
AA Change: G322C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000056642
Gene: ENSMUSG00000043418
AA Change: G322C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428F04Rik	T	C	8: 105,285,803	D4G	probably damaging	Het
Adamts20	A	T	15: 94,379,746	Y278*	probably null	Het
Agap3	A	T	5: 24,452,463	Y86F	possibly damaging	Het
Agap3	C	A	5: 24,452,464	Y86*	probably null	Het
Ahnak	T	C	19: 9,012,365		probably benign	Het
Arhgap45	G	T	10: 80,017,782	E43D	probably benign	Het
Cacna1d	A	C	14: 30,075,852	I1426S	probably damaging	Het
Cdkn2a	T	C	4: 89,274,766	E159G	probably benign	Het
Cep85l	C	A	10: 53,349,118	W125L	probably damaging	Het
Ces1g	C	T	8: 93,317,019	V431M	possibly damaging	Het
Csmd1	G	A	8: 17,534,913	A21V	possibly damaging	Het
Ctsc	T	A	7: 88,302,278	Y243*	probably null	Het
Ctu1	A	G	7: 43,676,622	E235G	probably damaging	Het
D1Ertd622e	T	C	1: 97,646,305	T12A	probably benign	Het
Degs2	T	C	12: 108,702,202	Y14C	probably damaging	Het
Dnaaf5	T	C	5: 139,151,596	F235L	probably damaging	Het
Dpp8	T	C	9: 65,035,008	S5P	probably damaging	Het
Dync1h1	T	C	12: 110,652,180	I3288T	probably benign	Het
Ebpl	A	T	14: 61,360,302	L30Q	probably damaging	Het
Etaa1	T	A	11: 17,953,794	M1L	probably benign	Het
Etl4	A	G	2: 20,806,309	T1068A	probably benign	Het
Eya1	C	A	1: 14,270,975		probably null	Het
Fam26e	C	A	10: 34,092,455	A201S	probably benign	Het
Fat1	G	T	8: 45,044,464	V4329L	probably damaging	Het
Fras1	A	T	5: 96,543,306	Q127L	probably benign	Het
Gm1110	T	G	9: 26,881,064	Y590S	probably damaging	Het
Gm14410	G	A	2: 177,194,067	Q135*	probably null	Het
Gm5039	T	C	12: 88,321,198	Y95C	probably damaging	Het
Greb1	A	T	12: 16,684,420	V1523D	probably damaging	Het
Hmg20b	T	C	10: 81,347,020	N210S	probably damaging	Het
Kcnh7	T	C	2: 62,787,685	K487E	possibly damaging	Het
Kcnk13	G	T	12: 100,061,689	R341L	probably damaging	Het
Kif17	T	A	4: 138,269,884	Y139*	probably null	Het
Klhl2	A	T	8: 64,823,091	N53K	probably benign	Het
Mgam	A	T	6: 40,729,009	Q4L	probably benign	Het
Mst1r	A	G	9: 107,920,026	T1365A	probably benign	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Mydgf	C	A	17: 56,183,789	V35L	probably damaging	Het
Nmt2	T	A	2: 3,305,304		probably null	Het
Olfr600	C	T	7: 103,346,916	C4Y	possibly damaging	Het
Olfr982	A	G	9: 40,074,814	Y173C	probably damaging	Het
Pik3r2	T	C	8: 70,770,414	Y454C	probably damaging	Het
Rad54l	T	C	4: 116,099,669	Y485C	probably damaging	Het
Rapgef6	T	A	11: 54,546,380	S50T	probably benign	Het
Scaf11	T	C	15: 96,419,419	S755G	probably damaging	Het
Shb	A	G	4: 45,458,163	W135R	probably damaging	Het
Slc1a4	T	C	11: 20,314,001	K239E	probably damaging	Het
Slc44a4	T	A	17: 34,923,822	V248D	probably benign	Het
Smpdl3a	T	A	10: 57,808,011	Y288*	probably null	Het
Sptbn1	T	C	11: 30,146,777	M267V	possibly damaging	Het
Taok2	C	T	7: 126,871,937	R661Q	probably damaging	Het
Tas1r2	A	T	4: 139,669,719	I819F	probably damaging	Het
Themis2	A	T	4: 132,789,596	W198R	probably damaging	Het
Timd4	C	G	11: 46,815,443	S24*	probably null	Het
Tnrc18	T	C	5: 142,815,197	D2G	probably damaging	Het
Wdr35	A	G	12: 8,990,047	D384G	probably damaging	Het
Zfp560	C	A	9: 20,348,499	V356F	probably damaging	Het

Other mutations in Lrit2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Lrit2	APN	14	37071963	missense	probably benign	0.31
IGL01475:Lrit2	APN	14	37069094	missense	probably damaging	1.00
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	splice site	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
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
R8228:Lrit2	UTSW	14	37069191	missense	probably damaging	1.00
R8397:Lrit2	UTSW	14	37069077	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGCTCCAACTCTCAGCATCTTATAG -3'
(R):5'- AGATGCCATGCACTGTCTGC -3'

Sequencing Primer
(F):5'- TAACACTTCAAGAAAGATAACCCCTG -3'
(R):5'- CTTGACCACTCGTAGGTCAACATAGG -3'

Posted On

2018-10-18