Mutagenetix > Incidental Mutation

Incidental Mutation 'R8937:Lrit3'

680706

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

068710-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8937 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129581530-129597679 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129594193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 128 (M128K)

Ref Sequence

ENSEMBL: ENSMUSP00000140184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171313] [ENSMUST00000179187] [ENSMUST00000185462]

AlphaFold

W8DXL4

Predicted Effect

probably benign
Transcript: ENSMUST00000171313

SMART Domains

Protein: ENSMUSP00000132360
Gene: ENSMUSG00000028012

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	36	309	3.5e-11	PFAM
Pfam:7tm_1	42	294	4.6e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000179187
AA Change: M128K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136912
Gene: ENSMUSG00000093865
AA Change: M128K

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: M128K

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

SMART Domains

Protein: ENSMUSP00000140184
Gene: ENSMUSG00000093865
AA Change: M128K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (71/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930455H04Rik	C	A	3: 116,762,120 (GRCm39)		probably benign	Het
Actn3	C	T	19: 4,921,798 (GRCm39)		probably null	Het
Akap13	T	A	7: 75,184,601 (GRCm39)		probably null	Het
Akap9	A	T	5: 4,094,048 (GRCm39)	Q2190L	possibly damaging	Het
Ankrd6	A	T	4: 32,823,452 (GRCm39)	V190D	possibly damaging	Het
Atrn	T	A	2: 130,841,157 (GRCm39)	D1186E	probably benign	Het
Bank1	A	T	3: 135,989,934 (GRCm39)	V52E	probably damaging	Het
Blmh	A	G	11: 76,857,883 (GRCm39)	N342D	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ces2f	A	G	8: 105,677,669 (GRCm39)	T225A	probably damaging	Het
Clic6	G	T	16: 92,296,245 (GRCm39)	D302Y	probably damaging	Het
Clmn	T	A	12: 104,763,341 (GRCm39)	N95I	probably damaging	Het
Cmya5	A	T	13: 93,232,840 (GRCm39)	F749L	probably benign	Het
Cramp1	A	G	17: 25,202,956 (GRCm39)	F358L	probably damaging	Het
Dhx38	T	C	8: 110,283,098 (GRCm39)	D573G	probably damaging	Het
Dync1h1	T	C	12: 110,584,471 (GRCm39)	Y625H	probably damaging	Het
Enpep	A	G	3: 129,115,007 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,483,350 (GRCm39)	L3146P	probably damaging	Het
Gal3st2b	G	A	1: 93,868,570 (GRCm39)	S265N	probably benign	Het
Glis3	G	A	19: 28,643,266 (GRCm39)	A92V	possibly damaging	Het
Gm266	T	C	12: 111,452,173 (GRCm39)	D11G	probably benign	Het
Hmcn2	A	T	2: 31,204,427 (GRCm39)	M1L	probably benign	Het
Kcnj15	G	A	16: 95,097,548 (GRCm39)		probably benign	Het
Krt27	A	G	11: 99,239,551 (GRCm39)	S310P	probably damaging	Het
Lama2	A	T	10: 26,862,816 (GRCm39)	D2982E	probably damaging	Het
Lrfn3	A	G	7: 30,059,451 (GRCm39)	V258A	probably benign	Het
Ltbp3	A	G	19: 5,797,512 (GRCm39)	T417A	probably benign	Het
Mettl25	T	C	10: 105,601,122 (GRCm39)	T554A	probably benign	Het
Micall1	A	G	15: 79,011,198 (GRCm39)	S523G	probably damaging	Het
Mmp21	G	A	7: 133,280,700 (GRCm39)	A90V	probably benign	Het
Mon2	T	C	10: 122,895,110 (GRCm39)	N53S	probably benign	Het
Muc15	T	C	2: 110,562,252 (GRCm39)		probably null	Het
Myo15b	A	T	11: 115,773,127 (GRCm39)	M431L	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nt5c3	T	C	6: 56,861,701 (GRCm39)	D195G	probably damaging	Het
Or3a1b	T	A	11: 74,012,874 (GRCm39)	M253K	probably benign	Het
Or52h1	A	G	7: 103,828,949 (GRCm39)	L222P	possibly damaging	Het
Pals1	T	A	12: 78,866,115 (GRCm39)	D313E	probably benign	Het
Pgrmc2	A	G	3: 41,037,125 (GRCm39)	L102P	probably damaging	Het
Plekha1	T	G	7: 130,502,241 (GRCm39)		probably benign	Het
Pramel23	T	C	4: 143,423,562 (GRCm39)	Y409C	probably damaging	Het
Prss59	A	T	6: 40,902,999 (GRCm39)	Y124*	probably null	Het
Ralgapa1	T	G	12: 55,749,345 (GRCm39)	I1233L	probably damaging	Het
Rb1cc1	T	A	1: 6,333,441 (GRCm39)	D68E	probably benign	Het
Rere	C	A	4: 150,699,331 (GRCm39)		probably benign	Het
Rnf213	A	T	11: 119,321,100 (GRCm39)	H1185L	possibly damaging	Het
Robo2	G	T	16: 73,770,150 (GRCm39)	P529T	probably damaging	Het
Robo2	G	A	16: 73,770,149 (GRCm39)	P529L	probably damaging	Het
Shprh	A	G	10: 11,061,181 (GRCm39)	T1165A	possibly damaging	Het
Slc22a26	C	T	19: 7,768,390 (GRCm39)		probably benign	Het
Slc43a1	T	C	2: 84,690,450 (GRCm39)	L456P	probably damaging	Het
Slc5a8	T	C	10: 88,740,885 (GRCm39)	Y267H	probably damaging	Het
Snrnp200	T	C	2: 127,068,902 (GRCm39)	I927T	probably benign	Het
Sorbs1	T	C	19: 40,362,006 (GRCm39)	D156G	probably benign	Het
Sox5	A	T	6: 143,853,169 (GRCm39)	S370T	probably benign	Het
Spen	T	C	4: 141,201,374 (GRCm39)	T2418A	probably damaging	Het
St8sia6	A	T	2: 13,701,705 (GRCm39)	L104H	probably damaging	Het
Stox1	T	A	10: 62,500,430 (GRCm39)	N710I	probably damaging	Het
Syncrip	T	C	9: 88,344,900 (GRCm39)		probably benign	Het
Syt11	G	A	3: 88,655,051 (GRCm39)	P417S	probably damaging	Het
Taf2	A	T	15: 54,910,849 (GRCm39)	N608K	probably benign	Het
Tfcp2l1	G	A	1: 118,596,447 (GRCm39)	G394E	possibly damaging	Het
Tial1	A	G	7: 128,056,715 (GRCm39)	I13T	probably damaging	Het
Tmem108	T	C	9: 103,361,981 (GRCm39)	D535G	probably benign	Het
Tpp1	T	C	7: 105,396,626 (GRCm39)	M464V	probably benign	Het
Trrap	C	A	5: 144,757,063 (GRCm39)	N2108K	probably damaging	Het
Tspan3	T	C	9: 56,053,883 (GRCm39)	D156G	probably benign	Het
Ttn	C	T	2: 76,592,607 (GRCm39)	V20842I	probably benign	Het
Ubr4	T	A	4: 139,190,886 (GRCm39)	W4078R	probably damaging	Het
Uts2r	G	A	11: 121,051,795 (GRCm39)	V220M	possibly damaging	Het
Vmn2r19	G	A	6: 123,293,283 (GRCm39)		probably null	Het
Vmn2r3	A	T	3: 64,166,673 (GRCm39)	F819L	probably damaging	Het
Wdtc1	T	C	4: 133,031,470 (GRCm39)	Y250C	probably damaging	Het
Zan	T	C	5: 137,393,888 (GRCm39)	H4521R	unknown	Het
Zfp219	A	T	14: 52,244,224 (GRCm39)	C652S	probably 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
R5587:Lrit3	UTSW	3	129,582,547 (GRCm39)	missense	probably benign	0.25
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
R9794:Lrit3	UTSW	3	129,594,073 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATTCTTCTCGGTGGAAAGTCC -3'
(R):5'- AGCTTCGCATAGAGAAGACTGTG -3'

Sequencing Primer
(F):5'- TGGAAAGTCCGGGCTTCTAGAC -3'
(R):5'- CATAGAGAAGACTGTGGTCCGC -3'

Posted On

2021-08-31