Mutagenetix > Incidental Mutation

Incidental Mutation 'R8157:Lrit3'

633052

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

067583-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129581530-129597679 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129594284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 98 (T98A)

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 benign
Transcript: ENSMUST00000179187
AA Change: T98A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000136912
Gene: ENSMUSG00000093865
AA Change: T98A

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: T98A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000140184
Gene: ENSMUSG00000093865
AA Change: T98A

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: 99.5%
20x: 98.5%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310011J03Rik	T	A	10: 80,155,361 (GRCm39)	R51W	probably damaging	Het
Adam3	A	G	8: 25,197,453 (GRCm39)	I326T	probably benign	Het
Alpk3	A	G	7: 80,743,470 (GRCm39)	K1096E	probably benign	Het
Aph1a	T	C	3: 95,802,150 (GRCm39)	V44A	possibly damaging	Het
Ash1l	T	A	3: 88,971,014 (GRCm39)		probably null	Het
Atg2b	A	G	12: 105,629,199 (GRCm39)	M410T	probably damaging	Het
Castor2	T	C	5: 134,165,936 (GRCm39)	F228S	possibly damaging	Het
Ccdc15	C	T	9: 37,226,753 (GRCm39)	G407D	probably benign	Het
Cd200r4	T	A	16: 44,653,504 (GRCm39)	N137K	probably damaging	Het
Clec18a	A	G	8: 111,798,683 (GRCm39)	L438P	probably damaging	Het
Clip1	A	G	5: 123,768,782 (GRCm39)	S606P	probably benign	Het
Col11a2	G	A	17: 34,280,230 (GRCm39)	G1193E	unknown	Het
Col6a4	A	G	9: 105,945,097 (GRCm39)	S1006P	possibly damaging	Het
Ctsc	A	T	7: 87,951,416 (GRCm39)	D221V	probably benign	Het
Ctse	T	C	1: 131,600,249 (GRCm39)	Y333H	probably damaging	Het
Cyp2c23	T	C	19: 44,010,066 (GRCm39)	N93S	probably benign	Het
Daam1	A	T	12: 71,999,263 (GRCm39)	D633V	probably damaging	Het
Dlg2	G	A	7: 92,036,140 (GRCm39)	R607H	probably damaging	Het
Dsg2	T	A	18: 20,713,606 (GRCm39)	D192E	probably damaging	Het
Dync2h1	A	T	9: 7,001,473 (GRCm39)	N3838K	possibly damaging	Het
Ephx2	A	C	14: 66,345,506 (GRCm39)	S153A	probably damaging	Het
Eprs1	C	A	1: 185,130,591 (GRCm39)	H651N	probably benign	Het
Fat2	T	C	11: 55,142,910 (GRCm39)	D4313G	possibly damaging	Het
Fras1	A	G	5: 96,702,714 (GRCm39)	K252R	probably benign	Het
Galt	A	T	4: 41,757,226 (GRCm39)	Q193L	probably benign	Het
Gm7356	T	C	17: 14,221,583 (GRCm39)	K149E	probably damaging	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Hectd1	T	A	12: 51,838,073 (GRCm39)	R696S	possibly damaging	Het
Hydin	A	G	8: 111,178,668 (GRCm39)	I1088V	probably benign	Het
Igkv4-68	A	T	6: 69,282,306 (GRCm39)	S14R	probably benign	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Ldlrad4	C	T	18: 68,387,293 (GRCm39)	R202*	probably null	Het
Macc1	A	G	12: 119,409,728 (GRCm39)	I165M	probably benign	Het
Mapre2	T	A	18: 23,991,218 (GRCm39)	M162K	probably benign	Het
Mzf1	T	A	7: 12,778,279 (GRCm39)	H454L	probably damaging	Het
Naa30	T	A	14: 49,410,865 (GRCm39)	N264K	probably benign	Het
Or5ac17	A	G	16: 59,036,352 (GRCm39)	V208A	probably benign	Het
Or8d2	T	A	9: 38,759,762 (GRCm39)	Y117*	probably null	Het
Osr2	T	C	15: 35,302,063 (GRCm39)	I221T	probably benign	Het
Pcdh12	A	T	18: 38,415,850 (GRCm39)	I425K	probably benign	Het
Pcdhb3	T	G	18: 37,436,292 (GRCm39)	Y753D	probably damaging	Het
Pcdhb9	T	A	18: 37,536,208 (GRCm39)	V734E	probably damaging	Het
Pibf1	T	A	14: 99,433,831 (GRCm39)	L593I	probably benign	Het
Prag1	G	A	8: 36,614,393 (GRCm39)	C1315Y	probably damaging	Het
Prl3c1	T	C	13: 27,383,330 (GRCm39)	S19P	probably damaging	Het
Ptprz1	A	T	6: 23,002,539 (GRCm39)	D1543V	probably damaging	Het
Ripor2	A	G	13: 24,879,600 (GRCm39)	N356S	probably benign	Het
Rmc1	T	C	18: 12,321,690 (GRCm39)	V497A	possibly damaging	Het
Saxo4	A	T	19: 10,455,629 (GRCm39)	F207I	probably damaging	Het
Scrib	T	C	15: 75,931,037 (GRCm39)	H914R	possibly damaging	Het
Sema6b	G	A	17: 56,435,448 (GRCm39)	A265V	probably damaging	Het
Tdrd9	C	G	12: 111,951,500 (GRCm39)	L97V	probably benign	Het
Tle7	A	G	8: 110,835,493 (GRCm39)	M24V	probably benign	Het
Trabd	T	A	15: 88,970,024 (GRCm39)	L340H	probably damaging	Het
Trpm1	T	C	7: 63,849,017 (GRCm39)	W88R	probably damaging	Het
Txndc12	G	T	4: 108,710,419 (GRCm39)		probably null	Het
Vmn1r175	T	C	7: 23,508,523 (GRCm39)	I35V	probably benign	Het
Vmn1r48	A	T	6: 90,012,994 (GRCm39)	V277E	probably damaging	Het
Vmn2r72	G	A	7: 85,400,441 (GRCm39)	H203Y	probably benign	Het
Zbtb7c	A	G	18: 76,270,398 (GRCm39)	E162G	probably benign	Het
Zfp93	T	A	7: 23,975,885 (GRCm39)	C623*	probably null	Het
Zzz3	A	G	3: 152,155,285 (GRCm39)	I645V	probably null	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
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'- GCAGGTGAGGTTCCTCAGATATC -3'
(R):5'- GGAGTCTCGAAGCGTAGATC -3'

Sequencing Primer
(F):5'- AGATATCTGACCGCCTCGTTTGG -3'
(R):5'- AGTCTCGAAGCGTAGATCTTCTTG -3'

Posted On

2020-06-30