Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02479:Lrit2'

295116

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

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL02479

Quality Score

Status

Chromosome

Chromosomal Location

36789886-36795700 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36794235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 433 (L433P)

Ref Sequence

ENSEMBL: ENSMUSP00000056642 (fasta)

Gene Model

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

AlphaFold

Q6PFC5

Predicted Effect

probably damaging
Transcript: ENSMUST00000057176
AA Change: L433P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056642
Gene: ENSMUSG00000043418
AA Change: L433P

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

noncoding transcript
Transcript: ENSMUST00000224104

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	C	5: 121,639,461 (GRCm39)	Y528C	probably damaging	Het
Adam24	T	A	8: 41,132,571 (GRCm39)	I13N	probably benign	Het
Arsj	T	C	3: 126,232,588 (GRCm39)	S445P	possibly damaging	Het
Btf3l4	G	A	4: 108,683,373 (GRCm39)	T31I	possibly damaging	Het
Cask	A	T	X: 13,423,297 (GRCm39)	D502E	probably damaging	Het
Cenpl	T	A	1: 160,910,637 (GRCm39)	S195T	probably benign	Het
Clhc1	T	A	11: 29,528,107 (GRCm39)	I545N	probably damaging	Het
Clrn2	T	C	5: 45,621,254 (GRCm39)	I216T	probably benign	Het
Csf2rb	C	T	15: 78,225,924 (GRCm39)	Q332*	probably null	Het
Cyp3a44	T	C	5: 145,727,477 (GRCm39)	D284G	probably benign	Het
Dgka	T	C	10: 128,566,115 (GRCm39)	E345G	probably benign	Het
Dync1i2	G	A	2: 71,066,323 (GRCm39)	V128I	probably damaging	Het
Eno3	T	A	11: 70,551,714 (GRCm39)		probably benign	Het
Epc2	T	A	2: 49,422,147 (GRCm39)	I347K	probably benign	Het
F8	A	T	X: 74,331,846 (GRCm39)	N681K	probably damaging	Het
Fancm	T	A	12: 65,153,259 (GRCm39)	D1238E	probably damaging	Het
Fcna	T	A	2: 25,515,272 (GRCm39)	Q237L	probably benign	Het
Fpr2	A	T	17: 18,113,074 (GRCm39)	R23S	probably benign	Het
Frmd3	A	G	4: 74,105,752 (GRCm39)	D466G	probably benign	Het
Gen1	C	A	12: 11,291,936 (GRCm39)	V618L	probably benign	Het
Gja4	T	C	4: 127,206,217 (GRCm39)	E182G	probably benign	Het
Gsdmc	T	A	15: 63,649,824 (GRCm39)	I356F	possibly damaging	Het
Kctd19	T	C	8: 106,111,400 (GRCm39)	D102G	probably damaging	Het
Lrp2	G	A	2: 69,295,145 (GRCm39)		probably benign	Het
Luc7l3	G	A	11: 94,187,735 (GRCm39)		probably benign	Het
Map3k5	T	A	10: 19,932,230 (GRCm39)	L458Q	probably damaging	Het
Mast4	A	G	13: 102,878,545 (GRCm39)	S1038P	probably damaging	Het
Med12	A	T	X: 100,340,598 (GRCm39)		probably benign	Het
Mtor	T	A	4: 148,555,041 (GRCm39)	L888M	probably damaging	Het
Nova1	A	T	12: 46,863,701 (GRCm39)	I83N	unknown	Het
Obscn	A	G	11: 58,947,053 (GRCm39)		probably benign	Het
Or11q2	T	C	X: 48,772,742 (GRCm39)	V121A	probably benign	Het
Or4d10c	T	A	19: 12,065,269 (GRCm39)	M296L	probably benign	Het
Or4f15	A	C	2: 111,813,730 (GRCm39)	S230A	probably benign	Het
Or6k2	C	A	1: 173,986,520 (GRCm39)	Y60*	probably null	Het
Pde2a	A	G	7: 101,150,290 (GRCm39)	Y243C	probably damaging	Het
Pdzd8	T	A	19: 59,288,215 (GRCm39)	K1062*	probably null	Het
Phc1	A	T	6: 122,300,676 (GRCm39)		probably benign	Het
Pik3c2g	T	A	6: 139,863,730 (GRCm39)	S764T	probably benign	Het
Pmp2	T	G	3: 10,247,262 (GRCm39)	R89S	probably benign	Het
Prdm2	A	G	4: 142,861,499 (GRCm39)	L597P	probably damaging	Het
Rfx6	T	A	10: 51,554,424 (GRCm39)	D88E	probably benign	Het
Rgs9	T	C	11: 109,116,478 (GRCm39)	S442G	possibly damaging	Het
Ror2	C	T	13: 53,285,968 (GRCm39)	R82Q	possibly damaging	Het
Sez6	C	A	11: 77,868,852 (GRCm39)	A986E	possibly damaging	Het
Slc5a5	T	A	8: 71,341,555 (GRCm39)	M325L	possibly damaging	Het
Slx9	T	C	10: 77,350,161 (GRCm39)	S76G	probably damaging	Het
Sppl2c	G	A	11: 104,077,763 (GRCm39)	V188I	probably benign	Het
Srrm3	G	T	5: 135,864,103 (GRCm39)	C67F	probably damaging	Het
Stk31	A	G	6: 49,398,622 (GRCm39)	E341G	probably damaging	Het
Svil	A	T	18: 5,099,476 (GRCm39)	M1267L	probably damaging	Het
Tas2r135	C	T	6: 42,382,685 (GRCm39)	R75*	probably null	Het
Trav8d-1	T	C	14: 53,016,257 (GRCm39)	S48P	probably benign	Het
Vrk1	A	T	12: 106,017,261 (GRCm39)	Q95L	probably benign	Het
Wdr25	C	A	12: 108,864,527 (GRCm39)	T224K	probably benign	Het
Wdr37	A	T	13: 8,892,820 (GRCm39)	H224Q	probably damaging	Het
Zhx1	C	T	15: 57,917,767 (GRCm39)	E160K	probably damaging	Het

Other mutations in Lrit2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Lrit2	APN	14	36,793,920 (GRCm39)	missense	probably benign	0.31
IGL01475:Lrit2	APN	14	36,791,051 (GRCm39)	missense	probably damaging	1.00
IGL02080:Lrit2	APN	14	36,791,031 (GRCm39)	missense	probably damaging	0.99
IGL02141:Lrit2	APN	14	36,790,031 (GRCm39)	unclassified	probably benign
IGL02715:Lrit2	APN	14	36,794,505 (GRCm39)	missense	probably benign	0.00
R0114:Lrit2	UTSW	14	36,790,002 (GRCm39)	splice site	probably null
R1344:Lrit2	UTSW	14	36,790,513 (GRCm39)	missense	probably benign	0.32
R1529:Lrit2	UTSW	14	36,790,784 (GRCm39)	missense	probably benign	0.12
R1641:Lrit2	UTSW	14	36,791,105 (GRCm39)	missense	probably benign	0.34
R2105:Lrit2	UTSW	14	36,793,913 (GRCm39)	missense	probably damaging	1.00
R4365:Lrit2	UTSW	14	36,794,076 (GRCm39)	missense	probably damaging	1.00
R4645:Lrit2	UTSW	14	36,794,432 (GRCm39)	missense	probably benign
R5226:Lrit2	UTSW	14	36,794,310 (GRCm39)	missense	probably damaging	1.00
R5377:Lrit2	UTSW	14	36,791,140 (GRCm39)	missense	possibly damaging	0.59
R5387:Lrit2	UTSW	14	36,794,216 (GRCm39)	missense	probably damaging	1.00
R5840:Lrit2	UTSW	14	36,790,962 (GRCm39)	missense	possibly damaging	0.64
R5881:Lrit2	UTSW	14	36,794,192 (GRCm39)	missense	probably benign	0.02
R6499:Lrit2	UTSW	14	36,790,767 (GRCm39)	missense	probably damaging	0.98
R6863:Lrit2	UTSW	14	36,793,901 (GRCm39)	missense	probably damaging	0.99
R7307:Lrit2	UTSW	14	36,794,156 (GRCm39)	missense	probably benign	0.00
R7316:Lrit2	UTSW	14	36,790,815 (GRCm39)	missense	probably damaging	1.00
R7491:Lrit2	UTSW	14	36,790,867 (GRCm39)	missense	possibly damaging	0.83
R7525:Lrit2	UTSW	14	36,794,450 (GRCm39)	missense	possibly damaging	0.76
R7640:Lrit2	UTSW	14	36,794,081 (GRCm39)	missense	probably damaging	1.00
R8228:Lrit2	UTSW	14	36,791,148 (GRCm39)	missense	probably damaging	1.00
R8397:Lrit2	UTSW	14	36,791,034 (GRCm39)	missense	probably damaging	0.98
R8815:Lrit2	UTSW	14	36,794,487 (GRCm39)	missense	probably benign	0.00
R9099:Lrit2	UTSW	14	36,790,812 (GRCm39)	missense	possibly damaging	0.90
R9152:Lrit2	UTSW	14	36,794,187 (GRCm39)	missense	probably damaging	1.00
R9193:Lrit2	UTSW	14	36,794,550 (GRCm39)	missense	possibly damaging	0.72
R9309:Lrit2	UTSW	14	36,793,848 (GRCm39)	missense	probably benign	0.03
R9517:Lrit2	UTSW	14	36,794,272 (GRCm39)	nonsense	probably null
R9670:Lrit2	UTSW	14	36,790,115 (GRCm39)	nonsense	probably null
R9764:Lrit2	UTSW	14	36,790,936 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16