Mutagenetix > Incidental Mutations

Incidental Mutation 'R6280:Lrit3'

507884

Institutional Source

Beutler Lab

Gene Symbol

Lrit3

Ensembl Gene

ENSMUSG00000093865

Gene Name

leucine-rich repeat, immunoglobulin-like and transmembrane domains 3

Synonyms

LOC242235

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6280 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129787881-129804030 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129788763 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 525 (E525G)

Ref Sequence

ENSEMBL: ENSMUSP00000140184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179187] [ENSMUST00000185462]

Predicted Effect

probably damaging
Transcript: ENSMUST00000179187
AA Change: E404G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136912
Gene: ENSMUSG00000093865
AA Change: E404G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	20	61	2.7e-1	SMART
LRR	80	103	6.96e0	SMART
LRR	104	127	3.27e1	SMART
LRR_TYP	128	151	4.47e-3	SMART
LRR_TYP	152	175	7.37e-4	SMART
LRRCT	201	252	4.65e-2	SMART
Blast:IG	260	297	9e-13	BLAST
low complexity region	298	311	N/A	INTRINSIC
FN3	364	443	1.85e0	SMART
transmembrane domain	462	484	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000185462
AA Change: E525G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140184
Gene: ENSMUSG00000093865
AA Change: E525G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	20	61	1.3e-3	SMART
LRR	80	103	2.9e-2	SMART
LRR	104	127	1.4e-1	SMART
LRR_TYP	128	151	1.9e-5	SMART
LRR_TYP	152	175	3.2e-6	SMART
LRRCT	201	252	2.3e-4	SMART
IGc2	266	335	4.7e-11	SMART
low complexity region	340	352	N/A	INTRINSIC
low complexity region	362	376	N/A	INTRINSIC
low complexity region	408	432	N/A	INTRINSIC
FN3	485	564	9e-3	SMART
transmembrane domain	583	605	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188978

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a targeted allele show a selective absence of the ERG b-wave with a normal a-wave component under scotopic conditions, as well as variable ERG responses with larger a-wave amplitudes, shorter b-wave amplitudes, and longer implicit times of both waves under photopic conditions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,327,057	S534P	probably damaging	Het
4930452B06Rik	T	G	14: 8,473,414		probably null	Het
Abca12	C	T	1: 71,272,460	D1930N	probably benign	Het
Adam8	A	G	7: 139,984,807	L667S	probably damaging	Het
Adcy4	A	T	14: 55,779,043	I317N	probably damaging	Het
Agpat3	A	G	10: 78,285,038	F102S	probably damaging	Het
Apbb2	A	T	5: 66,364,982	W443R	probably damaging	Het
BC049715	T	A	6: 136,840,231	Y156*	probably null	Het
Bpifc	C	T	10: 85,977,712	V323I	probably benign	Het
Camp	T	G	9: 109,847,509	I149L	probably benign	Het
Cnih1	A	G	14: 46,788,177		probably null	Het
Col18a1	A	T	10: 77,112,489		probably benign	Het
Dsg4	A	T	18: 20,466,667	D780V	probably damaging	Het
Dync1i1	G	A	6: 5,972,084	V442I	probably benign	Het
Fam83g	G	T	11: 61,703,182	S514I	probably benign	Het
Fam92b	A	G	8: 120,172,119	I94T	possibly damaging	Het
Fbxo7	A	G	10: 86,029,105	N93D	probably benign	Het
Fgf20	G	T	8: 40,281,112	S76*	probably null	Het
Foxi1	A	G	11: 34,207,972	F18L	probably damaging	Het
Fxr1	G	A	3: 34,046,252		probably benign	Het
Gon4l	T	A	3: 88,890,888	L800H	probably damaging	Het
Gpn3	T	A	5: 122,373,959	S33T	probably benign	Het
Gria4	T	C	9: 4,456,072	M743V	probably damaging	Het
Hira	A	G	16: 18,910,707	N109D	probably damaging	Het
Hsd3b3	A	G	3: 98,753,305		probably null	Het
Hsf2	T	G	10: 57,511,495	S370A	probably benign	Het
Htt	T	A	5: 34,870,759	D1786E	probably benign	Het
Ifit1bl2	T	A	19: 34,620,134	R27S	possibly damaging	Het
Il17rb	G	A	14: 30,002,971	A186V	probably benign	Het
Irak4	G	T	15: 94,551,810	E57*	probably null	Het
Kcnh2	T	A	5: 24,331,923	H221L	probably benign	Het
Kdm2b	T	C	5: 122,878,624	N1149D	probably damaging	Het
Kif26a	A	G	12: 112,174,869	H702R	probably damaging	Het
Kmt2e	T	C	5: 23,499,516	S1236P	possibly damaging	Het
Krt77	T	A	15: 101,865,475	D248V	probably damaging	Het
Lgals3bp	T	C	11: 118,393,280	N52S	possibly damaging	Het
Lhfp	T	C	3: 53,260,514	Y170H	probably damaging	Het
Lpin2	A	G	17: 71,232,248		probably benign	Het
Lrig3	T	C	10: 126,010,979	I872T	probably benign	Het
Lrp1	T	C	10: 127,589,584	T726A	probably benign	Het
Mep1a	A	T	17: 43,502,392	N46K	probably damaging	Het
Muc16	C	A	9: 18,579,317		probably null	Het
N4bp1	A	C	8: 86,853,166	N669K	possibly damaging	Het
Nelfcd	A	G	2: 174,415,946	D26G	probably benign	Het
Neu4	G	A	1: 94,025,151	S414N	probably damaging	Het
Nudt9	A	G	5: 104,065,069	D336G	probably benign	Het
Obscn	C	A	11: 59,063,683	G3691V	possibly damaging	Het
Olfr1102	A	G	2: 87,002,020	N17S	probably damaging	Het
Olfr1263	A	C	2: 90,015,049	I40L	possibly damaging	Het
Pdgfd	T	A	9: 6,288,627	S94T	probably benign	Het
Picalm	A	G	7: 90,177,562	H290R	probably benign	Het
Pou2f3	A	T	9: 43,139,339	L242Q	probably damaging	Het
Pou2f3	G	T	9: 43,139,340	L242M	probably damaging	Het
Prkd3	C	T	17: 78,981,931	G187D	probably damaging	Het
Pwp1	A	G	10: 85,874,462	S49G	probably damaging	Het
Ralgapa2	A	G	2: 146,342,209	L1626P	probably damaging	Het
Rin2	A	G	2: 145,861,019	Y545C	probably damaging	Het
Rwdd4a	A	G	8: 47,542,797	T71A	probably benign	Het
Senp7	T	C	16: 56,162,375	F504L	possibly damaging	Het
Slc12a6	A	G	2: 112,337,358	T231A	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Slc17a2	A	G	13: 23,822,394	S468G	probably benign	Het
Slc4a10	A	G	2: 62,281,966	N697S	probably benign	Het
Spint1	T	A	2: 119,245,278	V194E	possibly damaging	Het
Sptlc2	A	T	12: 87,388,131	M14K	probably benign	Het
Stard9	A	G	2: 120,701,127	K2622E	probably benign	Het
Tbc1d5	T	C	17: 50,782,310	N614S	probably benign	Het
Tdpoz2	A	T	3: 93,651,883	C261S	probably benign	Het
Tmem150b	A	T	7: 4,724,374	I44N	probably benign	Het
Ttn	A	G	2: 76,778,158	L17807P	probably damaging	Het
Vcan	G	A	13: 89,725,373	R121W	probably damaging	Het
Vmn2r15	T	A	5: 109,293,425	H189L	possibly damaging	Het
Vmn2r19	A	G	6: 123,336,253	S761G	probably benign	Het
Wdr11	A	T	7: 129,599,106	K34*	probably null	Het
Zfp120	A	T	2: 150,118,044	S141R	possibly damaging	Het
Zfp462	C	G	4: 55,010,253	P740A	probably benign	Het

Other mutations in Lrit3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4304:Lrit3	UTSW	3	129788819	small insertion	probably benign
FR4340:Lrit3	UTSW	3	129788808	small insertion	probably benign
FR4548:Lrit3	UTSW	3	129788813	small insertion	probably benign
FR4548:Lrit3	UTSW	3	129788816	small insertion	probably benign
FR4589:Lrit3	UTSW	3	129803913	frame shift	probably null
FR4737:Lrit3	UTSW	3	129788806	small insertion	probably benign
FR4737:Lrit3	UTSW	3	129788810	small insertion	probably benign
FR4737:Lrit3	UTSW	3	129803913	frame shift	probably null
FR4976:Lrit3	UTSW	3	129803910	unclassified	probably benign
R0555:Lrit3	UTSW	3	129791296	missense	probably damaging	1.00
R0629:Lrit3	UTSW	3	129788302	missense	probably damaging	1.00
R0631:Lrit3	UTSW	3	129788555	missense	probably damaging	1.00
R1690:Lrit3	UTSW	3	129800745	missense	probably damaging	0.99
R1902:Lrit3	UTSW	3	129791246	missense	probably benign	0.17
R1955:Lrit3	UTSW	3	129800481	missense	probably benign	0.11
R3155:Lrit3	UTSW	3	129791395	missense	probably benign	0.00
R4005:Lrit3	UTSW	3	129791372	missense	probably benign	0.14
R4445:Lrit3	UTSW	3	129788531	nonsense	probably null
R4675:Lrit3	UTSW	3	129788472	missense	probably damaging	1.00
R5104:Lrit3	UTSW	3	129788391	missense	possibly damaging	0.86
R5147:Lrit3	UTSW	3	129803925	missense	possibly damaging	0.78
R5271:Lrit3	UTSW	3	129788301	missense	probably damaging	1.00
R5505:Lrit3	UTSW	3	129791438	missense	possibly damaging	0.83
R5587:Lrit3	UTSW	3	129788898	missense	probably benign	0.25
R6056:Lrit3	UTSW	3	129789355	missense	probably damaging	1.00
R6239:Lrit3	UTSW	3	129800346	missense	probably damaging	0.98
R6305:Lrit3	UTSW	3	129800460	missense	probably damaging	0.98
R6441:Lrit3	UTSW	3	129800360	missense	probably benign
R6947:Lrit3	UTSW	3	129789234	missense	probably benign	0.01
R6949:Lrit3	UTSW	3	129789285	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGACCACTGTGAGCCACG -3'
(R):5'- GTGTACAAACCAGCATCTCAGG -3'

Sequencing Primer
(F):5'- GCCCCTCAACTCTGTTGGTAG -3'
(R):5'- GGAAGTTTCCTCCGCTCAG -3'

Posted On

2018-03-15