Mutagenetix > Incidental Mutation

Incidental Mutation 'R1530:Leprot'

166534

Institutional Source

Beutler Lab

Gene Symbol

Leprot

Ensembl Gene

ENSMUSG00000035212

Gene Name

leptin receptor overlapping transcript

Synonyms

Obrgrp, OB-RGRP

MMRRC Submission

039569-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.017) question?

Stock #

R1530 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101504922-101516561 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 101513484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 91 (V91L)

Ref Sequence

ENSEMBL: ENSMUSP00000030254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030254] [ENSMUST00000106927]

AlphaFold

O89013

Predicted Effect

probably benign
Transcript: ENSMUST00000030254
AA Change: V91L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000030254
Gene: ENSMUSG00000035212
AA Change: V91L

Domain	Start	End	E-Value	Type
Pfam:Vps55	7	124	7.9e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106927
AA Change: V68L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102540
Gene: ENSMUSG00000035212
AA Change: V68L

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:Vps55	31	103	2.5e-22	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LEPROT is associated with the Golgi complex and endosomes and has a role in cell surface expression of growth hormone receptor (GHR; MIM 600946) and leptin receptor (OBR, or LEPR; MIM 601007), thereby altering receptor-mediated cell signaling (Couturier et al., 2007 [PubMed 18042720]; Touvier et al., 2009 [PubMed 19907080]).[supplied by OMIM, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	T	C	5: 137,567,640 (GRCm39)	C425R	probably damaging	Het
Adam15	A	G	3: 89,257,137 (GRCm39)	S20P	probably damaging	Het
Adgra3	G	A	5: 50,118,479 (GRCm39)	T1023I	probably benign	Het
Angel2	T	A	1: 190,671,285 (GRCm39)	V46E	probably damaging	Het
Ankrd13c	T	A	3: 157,697,358 (GRCm39)	M321K	probably damaging	Het
Atad2b	C	T	12: 4,992,018 (GRCm39)	R206*	probably null	Het
Atp10b	T	A	11: 43,088,351 (GRCm39)	F319Y	probably benign	Het
AW554918	A	G	18: 25,533,161 (GRCm39)	R272G	probably damaging	Het
Bpi	T	A	2: 158,103,065 (GRCm39)	I70N	probably damaging	Het
Brca1	T	C	11: 101,415,521 (GRCm39)	D871G	probably damaging	Het
Capn3	G	A	2: 120,312,689 (GRCm39)	A160T	probably damaging	Het
Cenpe	T	C	3: 134,952,663 (GRCm39)	L1451P	possibly damaging	Het
Chmp7	A	G	14: 69,969,937 (GRCm39)	M1T	probably null	Het
Csrnp1	G	C	9: 119,802,612 (GRCm39)	Q200E	possibly damaging	Het
Dscam	G	A	16: 96,621,074 (GRCm39)	P545S	probably damaging	Het
Erap1	A	G	13: 74,794,662 (GRCm39)	E107G	probably benign	Het
Errfi1	A	G	4: 150,949,843 (GRCm39)	I49V	probably benign	Het
Fam171b	T	C	2: 83,710,533 (GRCm39)	L735S	probably damaging	Het
Fancm	T	A	12: 65,139,264 (GRCm39)		probably null	Het
Fbp2	G	C	13: 62,984,973 (GRCm39)	P316R	probably damaging	Het
Fcer2a	C	A	8: 3,732,976 (GRCm39)	G255V	probably damaging	Het
Fhip2a	T	A	19: 57,374,737 (GRCm39)	I704N	probably damaging	Het
Fzd2	T	C	11: 102,496,134 (GRCm39)	S193P	probably benign	Het
Gak	A	G	5: 108,772,059 (GRCm39)	V86A	probably damaging	Het
Gas2l3	A	G	10: 89,269,631 (GRCm39)	I7T	probably benign	Het
Gbp11	T	C	5: 105,475,355 (GRCm39)	H331R	probably damaging	Het
Gpr19	C	T	6: 134,846,961 (GRCm39)	V241M	probably damaging	Het
Grk6	G	A	13: 55,606,612 (GRCm39)	A437T	probably damaging	Het
Hip1	T	C	5: 135,473,634 (GRCm39)	D253G	probably damaging	Het
Ifna9	G	C	4: 88,510,409 (GRCm39)	Q72E	possibly damaging	Het
Il1r1	A	G	1: 40,351,521 (GRCm39)	T384A	probably benign	Het
Ip6k1	C	A	9: 107,922,761 (GRCm39)	C221*	probably null	Het
Kcna1	C	A	6: 126,619,494 (GRCm39)	E275D	probably benign	Het
Kcnt2	C	T	1: 140,411,970 (GRCm39)	Q468*	probably null	Het
Kin	T	C	2: 10,097,150 (GRCm39)	V333A	probably damaging	Het
Mettl21c	A	G	1: 44,056,344 (GRCm39)		probably null	Het
Myom2	T	C	8: 15,172,384 (GRCm39)	F1161S	probably damaging	Het
Ndor1	A	G	2: 25,138,921 (GRCm39)	L321P	probably benign	Het
Nipal2	A	T	15: 34,625,168 (GRCm39)	*72K	probably null	Het
Nol3	T	C	8: 106,005,858 (GRCm39)	V84A	probably benign	Het
Or2y16	C	T	11: 49,334,732 (GRCm39)	S18L	probably benign	Het
Or4c101	A	T	2: 88,389,827 (GRCm39)	I5F	probably benign	Het
Or8b42	T	C	9: 38,341,620 (GRCm39)	I14T	probably damaging	Het
Pcare	A	G	17: 72,056,473 (GRCm39)	V1068A	probably benign	Het
Pdgfra	T	A	5: 75,349,671 (GRCm39)		probably null	Het
Pik3cb	T	C	9: 98,936,026 (GRCm39)	D802G	probably damaging	Het
Plac8l1	A	T	18: 42,311,996 (GRCm39)	V141E	probably damaging	Het
Plxnb2	A	G	15: 89,051,395 (GRCm39)	S275P	probably benign	Het
Prl3b1	G	A	13: 27,427,848 (GRCm39)	A53T	probably benign	Het
Rapgef6	T	A	11: 54,552,009 (GRCm39)	I959K	probably damaging	Het
Scn5a	T	C	9: 119,324,628 (GRCm39)	K1400R	probably damaging	Het
Sel1l	A	G	12: 91,793,458 (GRCm39)	S263P	probably damaging	Het
Setd5	G	A	6: 113,086,874 (GRCm39)	V34I	probably damaging	Het
Slc34a1	A	G	13: 24,003,052 (GRCm39)	D234G	probably damaging	Het
Spink5	T	A	18: 44,148,738 (GRCm39)	S934T	probably damaging	Het
St18	A	C	1: 6,915,793 (GRCm39)		probably null	Het
St3gal4	T	C	9: 34,963,592 (GRCm39)	I239V	probably benign	Het
Stag3	C	T	5: 138,295,674 (GRCm39)	T399I	probably damaging	Het
Syt11	T	C	3: 88,669,674 (GRCm39)	K6E	probably damaging	Het
Taf15	T	C	11: 83,378,122 (GRCm39)	Y121H	possibly damaging	Het
Tdh	T	C	14: 63,733,504 (GRCm39)	Y113C	probably damaging	Het
Tgfbr1	T	A	4: 47,410,688 (GRCm39)	W406R	probably damaging	Het
Tgm6	A	G	2: 129,993,202 (GRCm39)	I563V	possibly damaging	Het
Tmem131	A	G	1: 36,866,090 (GRCm39)		probably null	Het
Tmub2	T	C	11: 102,178,312 (GRCm39)	S72P	probably benign	Het
Trappc13	G	A	13: 104,286,651 (GRCm39)	T202I	probably damaging	Het
Trim9	T	C	12: 70,319,202 (GRCm39)	E449G	probably damaging	Het
Trip11	C	A	12: 101,879,026 (GRCm39)	G21V	unknown	Het
Ttll12	G	A	15: 83,472,856 (GRCm39)	R127C	probably damaging	Het
Vmn2r125	A	T	4: 156,703,447 (GRCm39)	Y275F	probably damaging	Het
Xrcc5	A	G	1: 72,369,103 (GRCm39)	D319G	probably damaging	Het
Zc3h14	T	G	12: 98,751,262 (GRCm39)	C159W	probably damaging	Het
Zc3h7b	C	T	15: 81,661,289 (GRCm39)	P376L	probably benign	Het
Zfhx3	C	T	8: 109,675,121 (GRCm39)	P2057L	probably damaging	Het

Other mutations in Leprot

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Leprot	APN	4	101,509,673 (GRCm39)	critical splice donor site	probably null
R2178:Leprot	UTSW	4	101,513,308 (GRCm39)	missense	probably benign	0.00
R3162:Leprot	UTSW	4	101,515,090 (GRCm39)	missense	probably damaging	1.00
R3162:Leprot	UTSW	4	101,515,090 (GRCm39)	missense	probably damaging	1.00
R5496:Leprot	UTSW	4	101,515,093 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACAGCGTTTACTGGCCCCTGTTC -3'
(R):5'- TCAGGCCCTGGCTCCTTTGATATG -3'

Sequencing Primer
(F):5'- GGCCCCTGTTCGTCTTG -3'
(R):5'- GGAAAGCCTTTCTACTGACTGAC -3'

Posted On

2014-04-13