Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01626:Lepr'

92749

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lepr

Ensembl Gene

ENSMUSG00000057722

Gene Name

leptin receptor

Synonyms

obl, Leprb, Obr, obese-like, OB-RGRP, Modb1, leptin receptor gene-related protein, LEPROT

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01626

Quality Score

Status

Chromosome

Chromosomal Location

101717404-101815352 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101733534 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 103 (T103I)

Ref Sequence

ENSEMBL: ENSMUSP00000102534 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037552] [ENSMUST00000102777] [ENSMUST00000106921] [ENSMUST00000145024]

AlphaFold

P48356

Predicted Effect

probably benign
Transcript: ENSMUST00000037552
AA Change: T103I

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000037385
Gene: ENSMUSG00000057722
AA Change: T103I

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
FN3	236	315	1.5e-5	SMART
Pfam:Lep_receptor_Ig	328	418	6.3e-23	PFAM
FN3	535	618	4.93e-1	SMART
FN3	641	721	3.25e1	SMART
FN3	736	818	2.35e0	SMART
transmembrane domain	838	860	N/A	INTRINSIC
low complexity region	908	921	N/A	INTRINSIC
low complexity region	1050	1065	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102777
AA Change: T103I

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099838
Gene: ENSMUSG00000057722
AA Change: T103I

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
FN3	236	315	1.5e-5	SMART
Pfam:Lep_receptor_Ig	329	420	2.6e-29	PFAM
FN3	535	618	4.93e-1	SMART
FN3	641	721	3.25e1	SMART
FN3	736	818	2.35e0	SMART
transmembrane domain	838	860	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106921
AA Change: T103I

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102534
Gene: ENSMUSG00000057722
AA Change: T103I

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
FN3	236	315	1.5e-5	SMART
Pfam:Lep_receptor_Ig	329	420	2.6e-29	PFAM
FN3	535	618	4.93e-1	SMART
FN3	641	721	3.25e1	SMART
FN3	736	818	2.35e0	SMART
transmembrane domain	838	860	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145024

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous mutants are hyperphagic, low-activity, poorly cold-adapted, sterile and have enhanced fat conversion. They are obese, hyperinsulinemic and, on certain strains, severely hyperglycemic. Heterozygotes are normal but resistant to prolonged fasting. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 60,019,174 (GRCm38)	D188G	probably damaging	Het
AI314180	G	A	4: 58,832,814 (GRCm38)		probably benign	Het
Aoc1	A	G	6: 48,906,531 (GRCm38)	Y447C	probably damaging	Het
Brd1	A	T	15: 88,700,887 (GRCm38)	L915M	probably damaging	Het
Cacna2d3	T	A	14: 28,943,607 (GRCm38)	E152D	possibly damaging	Het
Dnase2b	A	G	3: 146,584,616 (GRCm38)		probably null	Het
Fat4	T	C	3: 38,951,032 (GRCm38)	V1860A	probably damaging	Het
Fbxl5	C	A	5: 43,758,705 (GRCm38)	G455V	probably benign	Het
Fpr-rs4	G	A	17: 18,022,231 (GRCm38)	V167M	probably damaging	Het
Fut7	C	A	2: 25,425,331 (GRCm38)	Y153*	probably null	Het
Gnptab	A	G	10: 88,437,495 (GRCm38)	T1045A	probably damaging	Het
Gucy1a1	T	A	3: 82,108,619 (GRCm38)	D354V	probably damaging	Het
Gucy2e	A	G	11: 69,232,855 (GRCm38)	V406A	possibly damaging	Het
Herc2	T	C	7: 56,085,142 (GRCm38)	F160S	probably benign	Het
Ice2	T	G	9: 69,407,332 (GRCm38)	V42G	probably benign	Het
L3mbtl4	A	G	17: 68,630,202 (GRCm38)	Y406C	probably damaging	Het
Ly75	T	A	2: 60,301,015 (GRCm38)	M1589L	probably benign	Het
Map4k3	A	G	17: 80,605,809 (GRCm38)	V644A	probably damaging	Het
Micall1	A	G	15: 79,130,512 (GRCm38)	D696G	possibly damaging	Het
Muc4	T	C	16: 32,736,402 (GRCm38)	V8A	possibly damaging	Het
Myo1h	A	G	5: 114,314,966 (GRCm38)	D9G	probably damaging	Het
Nop14	T	A	5: 34,649,345 (GRCm38)	K472*	probably null	Het
Npat	T	A	9: 53,556,571 (GRCm38)	D275E	possibly damaging	Het
Nt5c1b	A	G	12: 10,374,798 (GRCm38)	T115A	probably benign	Het
Olfr429	A	G	1: 174,089,556 (GRCm38)	N172S	probably damaging	Het
Olfr709-ps1	A	T	7: 106,927,420 (GRCm38)	I13N	probably benign	Het
Pnpla7	T	A	2: 25,050,893 (GRCm38)	S1086T	possibly damaging	Het
Pold1	C	T	7: 44,533,372 (GRCm38)		probably null	Het
Ppfia1	A	G	7: 144,481,719 (GRCm38)	F1165L	probably benign	Het
Prlr	T	A	15: 10,328,718 (GRCm38)	D426E	probably benign	Het
Ptgs2	G	A	1: 150,103,727 (GRCm38)	R231H	probably damaging	Het
Rorc	A	G	3: 94,388,787 (GRCm38)	D91G	probably damaging	Het
Scaper	C	T	9: 55,912,051 (GRCm38)	V127M	possibly damaging	Het
Sema3g	A	T	14: 31,221,727 (GRCm38)	Y188F	probably damaging	Het
Slc45a3	G	T	1: 131,978,987 (GRCm38)	A400S	possibly damaging	Het
Slc9b2	C	A	3: 135,336,395 (GRCm38)	H478Q	probably benign	Het
Spg11	T	A	2: 122,060,971 (GRCm38)	H1973L	probably damaging	Het
Srgap3	A	G	6: 112,773,648 (GRCm38)	Y359H	probably damaging	Het
Stx16	T	G	2: 174,094,020 (GRCm38)	I248S	probably damaging	Het
Sytl3	A	G	17: 6,735,440 (GRCm38)	R287G	probably damaging	Het
Tiam1	T	C	16: 89,812,968 (GRCm38)	T82A	probably damaging	Het
Trpm1	T	C	7: 64,268,889 (GRCm38)	L659P	probably damaging	Het
Ttc13	G	A	8: 124,673,738 (GRCm38)		probably benign	Het
Unc80	T	C	1: 66,551,054 (GRCm38)		probably null	Het
Vldlr	G	T	19: 27,243,773 (GRCm38)	R613L	probably damaging	Het
Wdr77	C	T	3: 105,959,686 (GRCm38)	R35*	probably null	Het
Zc3h14	T	G	12: 98,779,186 (GRCm38)	I478R	possibly damaging	Het
Zfp366	A	G	13: 99,228,412 (GRCm38)	H27R	probably damaging	Het

Other mutations in Lepr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Lepr	APN	4	101,815,035 (GRCm38)	missense	probably benign
IGL01111:Lepr	APN	4	101,814,655 (GRCm38)	missense	possibly damaging	0.77
IGL01324:Lepr	APN	4	101,768,068 (GRCm38)	missense	probably benign	0.23
IGL01372:Lepr	APN	4	101,735,577 (GRCm38)	missense	possibly damaging	0.67
IGL01733:Lepr	APN	4	101,765,082 (GRCm38)	missense	probably benign	0.00
IGL01815:Lepr	APN	4	101,814,790 (GRCm38)	missense	possibly damaging	0.49
IGL01899:Lepr	APN	4	101,779,987 (GRCm38)	missense	possibly damaging	0.86
IGL02138:Lepr	APN	4	101,768,067 (GRCm38)	missense	probably damaging	0.98
IGL02161:Lepr	APN	4	101,745,678 (GRCm38)	missense	probably damaging	0.97
IGL02653:Lepr	APN	4	101,764,944 (GRCm38)	missense	probably benign	0.44
IGL02735:Lepr	APN	4	101,782,638 (GRCm38)	missense	probably damaging	1.00
IGL03035:Lepr	APN	4	101,764,980 (GRCm38)	missense	probably damaging	1.00
IGL03083:Lepr	APN	4	101,814,679 (GRCm38)	nonsense	probably null
IGL03160:Lepr	APN	4	101,764,906 (GRCm38)	missense	probably damaging	1.00
aufsetzigen	UTSW	4	101,752,175 (GRCm38)	missense	probably damaging	1.00
beastly	UTSW	4	101,814,591 (GRCm38)	missense	probably benign
business_class	UTSW	4	101,764,872 (GRCm38)	missense	probably damaging	1.00
cherub	UTSW	4	101,768,062 (GRCm38)	missense	probably benign	0.25
clodhopper	UTSW	4	101,765,290 (GRCm38)	splice site	probably null
donner	UTSW	4	101,815,201 (GRCm38)	missense	probably damaging	1.00
fluffy	UTSW	4	101,792,023 (GRCm38)	missense	probably damaging	1.00
giant	UTSW	4	101,765,152 (GRCm38)	critical splice donor site	probably null
gordo	UTSW	4	101,765,305 (GRCm38)	missense	probably damaging	0.97
Immunoglutton	UTSW	4	101,765,301 (GRCm38)	splice site	probably benign
Jumbo_shrimp	UTSW	4	101,764,954 (GRCm38)	nonsense	probably null
lowleaning	UTSW	4	101,814,391 (GRCm38)	splice site	probably null
odd	UTSW	4	101,728,074 (GRCm38)	splice site	probably benign
paleo	UTSW	4	101,745,645 (GRCm38)	missense	possibly damaging	0.94
R0140_Lepr_245	UTSW	4	101,768,067 (GRCm38)	missense	probably damaging	1.00
well-upholstered	UTSW	4	101,772,958 (GRCm38)	synonymous	probably benign
worldly	UTSW	4	101,768,228 (GRCm38)	missense	possibly damaging	0.96
PIT4651001:Lepr	UTSW	4	101,791,997 (GRCm38)	missense	probably damaging	1.00
PIT4696001:Lepr	UTSW	4	101,779,983 (GRCm38)	missense	probably benign	0.10
R0140:Lepr	UTSW	4	101,768,067 (GRCm38)	missense	probably damaging	1.00
R0197:Lepr	UTSW	4	101,752,152 (GRCm38)	missense	possibly damaging	0.64
R0279:Lepr	UTSW	4	101,750,344 (GRCm38)	missense	probably benign	0.05
R0487:Lepr	UTSW	4	101,768,093 (GRCm38)	nonsense	probably null
R0498:Lepr	UTSW	4	101,745,692 (GRCm38)	missense	probably benign	0.01
R0506:Lepr	UTSW	4	101,773,010 (GRCm38)	splice site	probably benign
R0512:Lepr	UTSW	4	101,814,704 (GRCm38)	missense	possibly damaging	0.87
R0512:Lepr	UTSW	4	101,792,019 (GRCm38)	missense	probably damaging	1.00
R0726:Lepr	UTSW	4	101,764,934 (GRCm38)	missense	probably benign	0.01
R1054:Lepr	UTSW	4	101,782,596 (GRCm38)	missense	probably damaging	0.97
R1109:Lepr	UTSW	4	101,771,355 (GRCm38)	missense	probably damaging	1.00
R1398:Lepr	UTSW	4	101,792,019 (GRCm38)	missense	probably damaging	1.00
R1464:Lepr	UTSW	4	101,735,681 (GRCm38)	missense	probably benign	0.08
R1464:Lepr	UTSW	4	101,735,681 (GRCm38)	missense	probably benign	0.08
R1519:Lepr	UTSW	4	101,789,344 (GRCm38)	missense	probably damaging	0.97
R1602:Lepr	UTSW	4	101,745,645 (GRCm38)	missense	possibly damaging	0.94
R1830:Lepr	UTSW	4	101,735,677 (GRCm38)	missense	probably damaging	1.00
R1850:Lepr	UTSW	4	101,733,423 (GRCm38)	missense	possibly damaging	0.67
R1918:Lepr	UTSW	4	101,772,836 (GRCm38)	missense	probably benign	0.08
R1928:Lepr	UTSW	4	101,782,730 (GRCm38)	splice site	probably benign
R2099:Lepr	UTSW	4	101,772,988 (GRCm38)	missense	probably damaging	1.00
R2102:Lepr	UTSW	4	101,772,981 (GRCm38)	missense	possibly damaging	0.95
R2175:Lepr	UTSW	4	101,765,379 (GRCm38)	missense	probably benign	0.01
R2254:Lepr	UTSW	4	101,815,112 (GRCm38)	missense	probably benign	0.26
R2396:Lepr	UTSW	4	101,733,528 (GRCm38)	missense	probably benign	0.19
R2508:Lepr	UTSW	4	101,790,896 (GRCm38)	missense	probably damaging	0.98
R2571:Lepr	UTSW	4	101,768,172 (GRCm38)	missense	possibly damaging	0.96
R3790:Lepr	UTSW	4	101,790,914 (GRCm38)	splice site	probably benign
R3882:Lepr	UTSW	4	101,815,265 (GRCm38)	missense	probably damaging	1.00
R3933:Lepr	UTSW	4	101,765,301 (GRCm38)	splice site	probably benign
R4211:Lepr	UTSW	4	101,733,414 (GRCm38)	missense	probably benign	0.19
R4343:Lepr	UTSW	4	101,765,152 (GRCm38)	critical splice donor site	probably null
R4345:Lepr	UTSW	4	101,765,152 (GRCm38)	critical splice donor site	probably null
R4544:Lepr	UTSW	4	101,768,228 (GRCm38)	missense	possibly damaging	0.96
R4546:Lepr	UTSW	4	101,814,641 (GRCm38)	missense	probably benign	0.35
R4724:Lepr	UTSW	4	101,765,365 (GRCm38)	nonsense	probably null
R4797:Lepr	UTSW	4	101,780,047 (GRCm38)	missense	possibly damaging	0.90
R4860:Lepr	UTSW	4	101,789,337 (GRCm38)	missense	probably benign	0.14
R4860:Lepr	UTSW	4	101,789,337 (GRCm38)	missense	probably benign	0.14
R4929:Lepr	UTSW	4	101,815,117 (GRCm38)	missense	probably benign	0.00
R4939:Lepr	UTSW	4	101,733,438 (GRCm38)	missense	possibly damaging	0.78
R5377:Lepr	UTSW	4	101,815,019 (GRCm38)	missense	possibly damaging	0.71
R5520:Lepr	UTSW	4	101,745,537 (GRCm38)	missense	probably benign	0.00
R5966:Lepr	UTSW	4	101,792,127 (GRCm38)	intron	probably benign
R6092:Lepr	UTSW	4	101,792,023 (GRCm38)	missense	probably damaging	1.00
R6130:Lepr	UTSW	4	101,765,372 (GRCm38)	missense	probably damaging	0.99
R6168:Lepr	UTSW	4	101,735,592 (GRCm38)	missense	probably damaging	0.99
R6232:Lepr	UTSW	4	101,814,391 (GRCm38)	splice site	probably null
R6380:Lepr	UTSW	4	101,764,954 (GRCm38)	nonsense	probably null
R6427:Lepr	UTSW	4	101,774,257 (GRCm38)	missense	possibly damaging	0.47
R6428:Lepr	UTSW	4	101,780,098 (GRCm38)	missense	probably damaging	1.00
R6641:Lepr	UTSW	4	101,765,305 (GRCm38)	missense	probably damaging	0.97
R6650:Lepr	UTSW	4	101,815,201 (GRCm38)	missense	probably damaging	1.00
R6859:Lepr	UTSW	4	101,765,290 (GRCm38)	splice site	probably null
R7023:Lepr	UTSW	4	101,789,287 (GRCm38)	missense	probably damaging	1.00
R7145:Lepr	UTSW	4	101,752,197 (GRCm38)	missense	probably benign	0.00
R7174:Lepr	UTSW	4	101,750,338 (GRCm38)	missense	probably benign	0.01
R7179:Lepr	UTSW	4	101,745,659 (GRCm38)	missense	probably benign	0.06
R7189:Lepr	UTSW	4	101,814,764 (GRCm38)	missense	probably benign	0.00
R7426:Lepr	UTSW	4	101,745,656 (GRCm38)	missense	probably benign	0.03
R7531:Lepr	UTSW	4	101,752,175 (GRCm38)	missense	probably damaging	1.00
R7620:Lepr	UTSW	4	101,752,073 (GRCm38)	missense	probably benign	0.41
R7804:Lepr	UTSW	4	101,782,586 (GRCm38)	missense	probably damaging	1.00
R8022:Lepr	UTSW	4	101,782,557 (GRCm38)	missense	probably benign	0.32
R8142:Lepr	UTSW	4	101,765,419 (GRCm38)	missense	possibly damaging	0.93
R8227:Lepr	UTSW	4	101,771,362 (GRCm38)	missense	probably damaging	0.99
R8426:Lepr	UTSW	4	101,814,644 (GRCm38)	missense	probably benign	0.12
R8447:Lepr	UTSW	4	101,814,491 (GRCm38)	missense	probably benign	0.08
R8531:Lepr	UTSW	4	101,765,415 (GRCm38)	missense	probably damaging	1.00
R8682:Lepr	UTSW	4	101,792,072 (GRCm38)	missense	probably benign	0.00
R8897:Lepr	UTSW	4	101,792,036 (GRCm38)	missense	probably damaging	0.98
R9096:Lepr	UTSW	4	101,774,221 (GRCm38)	missense	possibly damaging	0.95
R9177:Lepr	UTSW	4	101,745,601 (GRCm38)	nonsense	probably null
R9241:Lepr	UTSW	4	101,814,591 (GRCm38)	missense	probably benign
R9604:Lepr	UTSW	4	101,733,276 (GRCm38)	missense	probably benign	0.01
R9711:Lepr	UTSW	4	101,735,654 (GRCm38)	nonsense	probably null
X0026:Lepr	UTSW	4	101,733,327 (GRCm38)	missense	possibly damaging	0.47
Z1176:Lepr	UTSW	4	101,745,614 (GRCm38)	missense	probably damaging	0.99
Z1177:Lepr	UTSW	4	101,735,595 (GRCm38)	missense	probably damaging	1.00

Posted On

2013-12-09