Mutagenetix > Incidental Mutation

Incidental Mutation 'R5587:Lrit3'

438800

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

043141-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5587 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129581530-129597679 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 129582547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 359 (A359E)

Ref Sequence

ENSEMBL: ENSMUSP00000136912 (fasta)

Gene Model

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

AlphaFold

W8DXL4

Predicted Effect

probably benign
Transcript: ENSMUST00000179187
AA Change: A359E

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000136912
Gene: ENSMUSG00000093865
AA Change: A359E

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 benign
Transcript: ENSMUST00000185462
AA Change: A480E

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140184
Gene: ENSMUSG00000093865
AA Change: A480E

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

0.0898

Coding Region Coverage

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

Validation Efficiency

96% (78/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,170 (GRCm39)	R120G	probably benign	Het
Acad11	A	G	9: 103,940,966 (GRCm39)	T3A	probably benign	Het
Adamts18	G	A	8: 114,501,992 (GRCm39)	Q290*	probably null	Het
Ahnak	A	G	19: 8,986,840 (GRCm39)	D2708G	possibly damaging	Het
Asxl3	T	A	18: 22,658,304 (GRCm39)	C2105S	probably benign	Het
Atp8b1	A	T	18: 64,672,281 (GRCm39)	F1028I	probably damaging	Het
Axdnd1	C	G	1: 156,178,982 (GRCm39)	W615C	probably damaging	Het
Bcl3	A	T	7: 19,543,559 (GRCm39)	Y10*	probably null	Het
Bmp2	T	A	2: 133,396,566 (GRCm39)	V74E	possibly damaging	Het
Ccdc121	G	T	5: 31,643,428 (GRCm39)	G53W	probably benign	Het
Ccdc78	C	A	17: 26,005,651 (GRCm39)	P21Q	probably benign	Het
Cluap1	T	A	16: 3,733,348 (GRCm39)	V199E	probably damaging	Het
Cntnap3	T	C	13: 64,894,552 (GRCm39)	E1120G	probably damaging	Het
Col1a2	T	A	6: 4,540,531 (GRCm39)	W1330R	unknown	Het
Coq4	A	G	2: 29,685,526 (GRCm39)		probably null	Het
Cwf19l1	G	A	19: 44,109,316 (GRCm39)	T346I	possibly damaging	Het
Cyct	T	C	2: 76,184,547 (GRCm39)	Y68C	probably damaging	Het
Dnah10	T	C	5: 124,870,977 (GRCm39)	L2368P	probably benign	Het
Dnah2	A	T	11: 69,328,068 (GRCm39)	F3346I	probably damaging	Het
Dpp3	A	T	19: 4,968,295 (GRCm39)	V259E	probably damaging	Het
Dpyd	A	C	3: 118,858,600 (GRCm39)	S605R	probably damaging	Het
Emc1	A	G	4: 139,089,459 (GRCm39)	E209G	probably damaging	Het
Esrra	A	G	19: 6,897,575 (GRCm39)	S61P	probably benign	Het
Garin2	C	A	12: 78,761,849 (GRCm39)	P171H	probably damaging	Het
Gbx2	T	A	1: 89,860,844 (GRCm39)		probably benign	Het
Hepacam	A	G	9: 37,295,980 (GRCm39)	H377R	probably damaging	Het
Igkv12-46	T	C	6: 69,741,534 (GRCm39)	Y107C	probably damaging	Het
Intu	A	G	3: 40,629,738 (GRCm39)	D356G	probably damaging	Het
Izumo4	A	T	10: 80,539,054 (GRCm39)	N113Y	probably damaging	Het
Krt86	G	A	15: 101,371,474 (GRCm39)	A15T	probably benign	Het
Lhx8	A	T	3: 154,017,316 (GRCm39)	S275R	probably damaging	Het
Lingo3	A	T	10: 80,671,364 (GRCm39)	S189T	probably damaging	Het
Llgl1	T	A	11: 60,601,168 (GRCm39)	M702K	probably benign	Het
Lpin1	T	C	12: 16,623,715 (GRCm39)	Y223C		Het
Lrp2	T	C	2: 69,329,607 (GRCm39)	E1720G	probably benign	Het
Mcub	A	C	3: 129,710,619 (GRCm39)	V271G	probably benign	Het
Nktr	C	T	9: 121,577,555 (GRCm39)		probably benign	Het
Or10g9	A	T	9: 39,911,917 (GRCm39)	I202N	possibly damaging	Het
Or13p4	T	A	4: 118,547,067 (GRCm39)	D194V	probably damaging	Het
Or1j18	A	T	2: 36,624,633 (GRCm39)	Q100L	probably damaging	Het
Or4d5	A	T	9: 40,012,540 (GRCm39)	L82Q	probably damaging	Het
Or52z12	T	A	7: 103,233,738 (GRCm39)	Y170N	probably benign	Het
Or9i1	G	A	19: 13,839,940 (GRCm39)	R261H	probably damaging	Het
Pcdha4	T	C	18: 37,087,875 (GRCm39)	V686A	probably benign	Het
Pelo	A	G	13: 115,226,409 (GRCm39)	V16A	possibly damaging	Het
Plcd1	A	G	9: 118,902,900 (GRCm39)	S539P	probably benign	Het
Prss1	A	G	6: 41,440,199 (GRCm39)	I179V	possibly damaging	Het
Ptgs2	T	C	1: 149,981,306 (GRCm39)	Y530H	probably damaging	Het
Rai1	T	C	11: 60,080,685 (GRCm39)	V1583A	probably damaging	Het
Raph1	T	G	1: 60,537,632 (GRCm39)	D508A	probably damaging	Het
Rmnd5a	A	G	6: 71,371,603 (GRCm39)		probably benign	Het
Rsf1	T	C	7: 97,311,328 (GRCm39)	L686P	probably benign	Het
Samd9l	T	C	6: 3,373,291 (GRCm39)	I1323M	possibly damaging	Het
Scn1a	T	C	2: 66,103,425 (GRCm39)	N1934S	probably benign	Het
Sec23ip	C	T	7: 128,352,151 (GRCm39)	H176Y	probably benign	Het
Sh3glb2	A	G	2: 30,244,863 (GRCm39)		probably null	Het
Sis	A	G	3: 72,821,909 (GRCm39)	I1384T	possibly damaging	Het
Spata31d1a	A	C	13: 59,850,432 (GRCm39)	C565W	probably damaging	Het
Srbd1	T	A	17: 86,435,229 (GRCm39)	Q278L	probably damaging	Het
Sry	T	C	Y: 2,662,625 (GRCm39)	H345R	unknown	Het
Suox	A	T	10: 128,507,694 (GRCm39)	D111E	probably damaging	Het
Taar7a	A	T	10: 23,868,726 (GRCm39)	F218L	probably benign	Het
Tfcp2l1	C	A	1: 118,592,492 (GRCm39)	N288K	possibly damaging	Het
Tmem128	G	T	5: 38,417,765 (GRCm39)	R7L	possibly damaging	Het
Tmem266	A	G	9: 55,344,850 (GRCm39)	N494S	probably damaging	Het
Tmprss3	T	A	17: 31,412,966 (GRCm39)	H80L	probably benign	Het
Tnrc6c	C	T	11: 117,640,097 (GRCm39)	Q1211*	probably null	Het
Tns1	T	A	1: 73,959,755 (GRCm39)	D1671V	possibly damaging	Het
Trmt1l	T	A	1: 151,311,455 (GRCm39)		probably benign	Het
Tshz2	A	T	2: 169,726,262 (GRCm39)	D286V	probably damaging	Het
Ttyh2	A	G	11: 114,566,485 (GRCm39)	E39G	probably benign	Het
Vmn2r125	G	A	4: 156,702,433 (GRCm39)	C73Y	probably damaging	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Vmn2r61	T	C	7: 41,949,911 (GRCm39)	F777S	probably damaging	Het
Vmn2r9	T	C	5: 108,995,427 (GRCm39)	E407G	probably damaging	Het
Vwa3a	A	G	7: 120,379,458 (GRCm39)	N521S	probably damaging	Het
Zan	C	G	5: 137,390,024 (GRCm39)	S4816T	unknown	Het
Zc3h7b	T	C	15: 81,656,059 (GRCm39)	Y136H	possibly damaging	Het
Zfp101	T	C	17: 33,600,295 (GRCm39)	K487R	possibly damaging	Het

Other mutations in Lrit3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4304:Lrit3	UTSW	3	129,582,468 (GRCm39)	small insertion	probably benign
FR4340:Lrit3	UTSW	3	129,582,457 (GRCm39)	small insertion	probably benign
FR4548:Lrit3	UTSW	3	129,582,465 (GRCm39)	small insertion	probably benign
FR4548:Lrit3	UTSW	3	129,582,462 (GRCm39)	small insertion	probably benign
FR4589:Lrit3	UTSW	3	129,597,562 (GRCm39)	frame shift	probably null
FR4737:Lrit3	UTSW	3	129,597,562 (GRCm39)	frame shift	probably null
FR4737:Lrit3	UTSW	3	129,582,459 (GRCm39)	small insertion	probably benign
FR4737:Lrit3	UTSW	3	129,582,455 (GRCm39)	small insertion	probably benign
FR4976:Lrit3	UTSW	3	129,597,559 (GRCm39)	unclassified	probably benign
R0555:Lrit3	UTSW	3	129,584,945 (GRCm39)	missense	probably damaging	1.00
R0629:Lrit3	UTSW	3	129,581,951 (GRCm39)	missense	probably damaging	1.00
R0631:Lrit3	UTSW	3	129,582,204 (GRCm39)	missense	probably damaging	1.00
R1690:Lrit3	UTSW	3	129,594,394 (GRCm39)	missense	probably damaging	0.99
R1902:Lrit3	UTSW	3	129,584,895 (GRCm39)	missense	probably benign	0.17
R1955:Lrit3	UTSW	3	129,594,130 (GRCm39)	missense	probably benign	0.11
R3155:Lrit3	UTSW	3	129,585,044 (GRCm39)	missense	probably benign	0.00
R4005:Lrit3	UTSW	3	129,585,021 (GRCm39)	missense	probably benign	0.14
R4445:Lrit3	UTSW	3	129,582,180 (GRCm39)	nonsense	probably null
R4675:Lrit3	UTSW	3	129,582,121 (GRCm39)	missense	probably damaging	1.00
R5104:Lrit3	UTSW	3	129,582,040 (GRCm39)	missense	possibly damaging	0.86
R5147:Lrit3	UTSW	3	129,597,574 (GRCm39)	missense	possibly damaging	0.78
R5271:Lrit3	UTSW	3	129,581,950 (GRCm39)	missense	probably damaging	1.00
R5505:Lrit3	UTSW	3	129,585,087 (GRCm39)	missense	possibly damaging	0.83
R6056:Lrit3	UTSW	3	129,583,004 (GRCm39)	missense	probably damaging	1.00
R6239:Lrit3	UTSW	3	129,593,995 (GRCm39)	missense	probably damaging	0.98
R6280:Lrit3	UTSW	3	129,582,412 (GRCm39)	missense	probably damaging	0.99
R6305:Lrit3	UTSW	3	129,594,109 (GRCm39)	missense	probably damaging	0.98
R6441:Lrit3	UTSW	3	129,594,009 (GRCm39)	missense	probably benign
R6947:Lrit3	UTSW	3	129,582,883 (GRCm39)	missense	probably benign	0.01
R6949:Lrit3	UTSW	3	129,582,934 (GRCm39)	missense	probably damaging	1.00
R7850:Lrit3	UTSW	3	129,594,452 (GRCm39)	missense	probably damaging	1.00
R8157:Lrit3	UTSW	3	129,594,284 (GRCm39)	missense	probably benign	0.00
R8405:Lrit3	UTSW	3	129,582,301 (GRCm39)	missense	probably benign	0.26
R8896:Lrit3	UTSW	3	129,585,132 (GRCm39)	missense	probably damaging	1.00
R8937:Lrit3	UTSW	3	129,594,193 (GRCm39)	missense	probably damaging	1.00
R9794:Lrit3	UTSW	3	129,594,073 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATGCCACATACTGACTTCCG -3'
(R):5'- TTCTGCAACCACCAGTGTAC -3'

Sequencing Primer
(F):5'- ATACTGACTTCCGGGCTCTAGG -3'
(R):5'- GTGTACAAACCAGCATCTCAGG -3'

Posted On

2016-10-26