Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01111:Lepr'

50918

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lepr

Ensembl Gene

ENSMUSG00000057722

Gene Name

leptin receptor

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01111

Quality Score

Status

Chromosome

Chromosomal Location

101574601-101672549 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101671852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 959 (N959Y)

Ref Sequence

ENSEMBL: ENSMUSP00000037385 (fasta)

Gene Model

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

AlphaFold

P48356

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037552
AA Change: N959Y

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037385
Gene: ENSMUSG00000057722
AA Change: N959Y

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: ENSMUST00000106921

SMART Domains

Protein: ENSMUSP00000102534
Gene: ENSMUSG00000057722

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ammecr1l	T	A	18: 31,905,123 (GRCm39)	Y121*	probably null	Het
Apc	C	T	18: 34,448,189 (GRCm39)	T1661I	possibly damaging	Het
Ccdc13	T	C	9: 121,639,150 (GRCm39)		probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Cpt1c	T	C	7: 44,614,978 (GRCm39)	H325R	possibly damaging	Het
Cyp2a22	T	C	7: 26,635,883 (GRCm39)	K227E	probably damaging	Het
Ddx10	T	C	9: 53,071,248 (GRCm39)	K682E	possibly damaging	Het
Dlg2	T	C	7: 91,098,971 (GRCm39)	Y123H	possibly damaging	Het
Dnaaf9	G	T	2: 130,578,518 (GRCm39)	D655E	possibly damaging	Het
Dnah11	A	T	12: 118,106,669 (GRCm39)		probably benign	Het
Dpysl2	T	C	14: 67,071,681 (GRCm39)	E153G	probably damaging	Het
Edrf1	T	A	7: 133,260,282 (GRCm39)	Y64*	probably null	Het
Ephb2	A	T	4: 136,384,721 (GRCm39)	S897T	probably benign	Het
Flt1	A	G	5: 147,515,146 (GRCm39)	I1092T	probably damaging	Het
Gabra4	T	C	5: 71,790,972 (GRCm39)	Y290C	probably damaging	Het
Hectd2	A	T	19: 36,574,520 (GRCm39)	H67L	probably damaging	Het
Itgb2	T	C	10: 77,377,834 (GRCm39)	L11P	probably damaging	Het
Jmy	T	C	13: 93,577,529 (GRCm39)	R880G	probably damaging	Het
Klhl2	A	G	8: 65,202,081 (GRCm39)	C532R	probably damaging	Het
Kpna1	A	G	16: 35,833,259 (GRCm39)		probably benign	Het
L3mbtl2	T	C	15: 81,569,099 (GRCm39)	V591A	possibly damaging	Het
Ldc1	T	A	4: 130,115,518 (GRCm39)	D10V	probably benign	Het
Man1a	A	T	10: 53,853,109 (GRCm39)		probably benign	Het
Mov10	A	T	3: 104,708,721 (GRCm39)	S431T	possibly damaging	Het
Mx2	A	T	16: 97,359,919 (GRCm39)	Q563L	probably benign	Het
Nrap	A	T	19: 56,333,990 (GRCm39)	Y874N	probably damaging	Het
Nup160	T	C	2: 90,563,553 (GRCm39)	I1373T	probably benign	Het
Nwd2	A	T	5: 63,964,643 (GRCm39)	D1409V	probably damaging	Het
Obsl1	A	T	1: 75,473,789 (GRCm39)	V744E	possibly damaging	Het
Or51l4	T	A	7: 103,404,580 (GRCm39)	T71S	probably benign	Het
Pgap1	T	C	1: 54,570,102 (GRCm39)	K315R	probably benign	Het
Rab8a	T	C	8: 72,929,700 (GRCm39)	V114A	probably damaging	Het
Sh2d6	T	C	6: 72,496,812 (GRCm39)	T73A	probably benign	Het
Shroom1	A	G	11: 53,354,875 (GRCm39)	E265G	probably damaging	Het
Slc8b1	G	A	5: 120,671,000 (GRCm39)	V529M	probably damaging	Het
Srbd1	G	T	17: 86,405,961 (GRCm39)	A613E	probably benign	Het
Stat1	G	A	1: 52,182,120 (GRCm39)		probably null	Het
Tbck	A	G	3: 132,400,168 (GRCm39)	H73R	probably damaging	Het
Thg1l	A	T	11: 45,839,051 (GRCm39)	D220E	probably damaging	Het
Ttn	C	T	2: 76,608,667 (GRCm39)	G16037D	probably damaging	Het
Unc13b	A	G	4: 43,096,927 (GRCm39)	E100G	possibly damaging	Het
Vmn2r81	T	A	10: 79,083,831 (GRCm39)	D68E	probably benign	Het
Xpo6	T	C	7: 125,728,740 (GRCm39)	T505A	probably benign	Het
Zfp976	T	C	7: 42,265,711 (GRCm39)	K25E	probably damaging	Het

Other mutations in Lepr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Lepr	APN	4	101,672,232 (GRCm39)	missense	probably benign
IGL01324:Lepr	APN	4	101,625,265 (GRCm39)	missense	probably benign	0.23
IGL01372:Lepr	APN	4	101,592,774 (GRCm39)	missense	possibly damaging	0.67
IGL01626:Lepr	APN	4	101,590,731 (GRCm39)	missense	probably benign	0.10
IGL01733:Lepr	APN	4	101,622,279 (GRCm39)	missense	probably benign	0.00
IGL01815:Lepr	APN	4	101,671,987 (GRCm39)	missense	possibly damaging	0.49
IGL01899:Lepr	APN	4	101,637,184 (GRCm39)	missense	possibly damaging	0.86
IGL02138:Lepr	APN	4	101,625,264 (GRCm39)	missense	probably damaging	0.98
IGL02161:Lepr	APN	4	101,602,875 (GRCm39)	missense	probably damaging	0.97
IGL02653:Lepr	APN	4	101,622,141 (GRCm39)	missense	probably benign	0.44
IGL02735:Lepr	APN	4	101,639,835 (GRCm39)	missense	probably damaging	1.00
IGL03035:Lepr	APN	4	101,622,177 (GRCm39)	missense	probably damaging	1.00
IGL03083:Lepr	APN	4	101,671,876 (GRCm39)	nonsense	probably null
IGL03160:Lepr	APN	4	101,622,103 (GRCm39)	missense	probably damaging	1.00
aufsetzigen	UTSW	4	101,609,372 (GRCm39)	missense	probably damaging	1.00
beastly	UTSW	4	101,671,788 (GRCm39)	missense	probably benign
business_class	UTSW	4	101,622,069 (GRCm39)	missense	probably damaging	1.00
cherub	UTSW	4	101,625,259 (GRCm39)	missense	probably benign	0.25
clodhopper	UTSW	4	101,622,487 (GRCm39)	splice site	probably null
donner	UTSW	4	101,672,398 (GRCm39)	missense	probably damaging	1.00
fluffy	UTSW	4	101,649,220 (GRCm39)	missense	probably damaging	1.00
giant	UTSW	4	101,622,349 (GRCm39)	critical splice donor site	probably null
gordo	UTSW	4	101,622,502 (GRCm39)	missense	probably damaging	0.97
Immunoglutton	UTSW	4	101,622,498 (GRCm39)	splice site	probably benign
Jumbo_shrimp	UTSW	4	101,622,151 (GRCm39)	nonsense	probably null
lowleaning	UTSW	4	101,671,588 (GRCm39)	splice site	probably null
odd	UTSW	4	101,585,271 (GRCm39)	splice site	probably benign
paleo	UTSW	4	101,602,842 (GRCm39)	missense	possibly damaging	0.94
R0140_Lepr_245	UTSW	4	101,625,264 (GRCm39)	missense	probably damaging	1.00
well-upholstered	UTSW	4	101,630,155 (GRCm39)	synonymous	probably benign
worldly	UTSW	4	101,625,425 (GRCm39)	missense	possibly damaging	0.96
PIT4651001:Lepr	UTSW	4	101,649,194 (GRCm39)	missense	probably damaging	1.00
PIT4696001:Lepr	UTSW	4	101,637,180 (GRCm39)	missense	probably benign	0.10
R0140:Lepr	UTSW	4	101,625,264 (GRCm39)	missense	probably damaging	1.00
R0197:Lepr	UTSW	4	101,609,349 (GRCm39)	missense	possibly damaging	0.64
R0279:Lepr	UTSW	4	101,607,541 (GRCm39)	missense	probably benign	0.05
R0487:Lepr	UTSW	4	101,625,290 (GRCm39)	nonsense	probably null
R0498:Lepr	UTSW	4	101,602,889 (GRCm39)	missense	probably benign	0.01
R0506:Lepr	UTSW	4	101,630,207 (GRCm39)	splice site	probably benign
R0512:Lepr	UTSW	4	101,671,901 (GRCm39)	missense	possibly damaging	0.87
R0512:Lepr	UTSW	4	101,649,216 (GRCm39)	missense	probably damaging	1.00
R0726:Lepr	UTSW	4	101,622,131 (GRCm39)	missense	probably benign	0.01
R1054:Lepr	UTSW	4	101,639,793 (GRCm39)	missense	probably damaging	0.97
R1109:Lepr	UTSW	4	101,628,552 (GRCm39)	missense	probably damaging	1.00
R1398:Lepr	UTSW	4	101,649,216 (GRCm39)	missense	probably damaging	1.00
R1464:Lepr	UTSW	4	101,592,878 (GRCm39)	missense	probably benign	0.08
R1464:Lepr	UTSW	4	101,592,878 (GRCm39)	missense	probably benign	0.08
R1519:Lepr	UTSW	4	101,646,541 (GRCm39)	missense	probably damaging	0.97
R1602:Lepr	UTSW	4	101,602,842 (GRCm39)	missense	possibly damaging	0.94
R1830:Lepr	UTSW	4	101,592,874 (GRCm39)	missense	probably damaging	1.00
R1850:Lepr	UTSW	4	101,590,620 (GRCm39)	missense	possibly damaging	0.67
R1918:Lepr	UTSW	4	101,630,033 (GRCm39)	missense	probably benign	0.08
R1928:Lepr	UTSW	4	101,639,927 (GRCm39)	splice site	probably benign
R2099:Lepr	UTSW	4	101,630,185 (GRCm39)	missense	probably damaging	1.00
R2102:Lepr	UTSW	4	101,630,178 (GRCm39)	missense	possibly damaging	0.95
R2175:Lepr	UTSW	4	101,622,576 (GRCm39)	missense	probably benign	0.01
R2254:Lepr	UTSW	4	101,672,309 (GRCm39)	missense	probably benign	0.26
R2396:Lepr	UTSW	4	101,590,725 (GRCm39)	missense	probably benign	0.19
R2508:Lepr	UTSW	4	101,648,093 (GRCm39)	missense	probably damaging	0.98
R2571:Lepr	UTSW	4	101,625,369 (GRCm39)	missense	possibly damaging	0.96
R3790:Lepr	UTSW	4	101,648,111 (GRCm39)	splice site	probably benign
R3882:Lepr	UTSW	4	101,672,462 (GRCm39)	missense	probably damaging	1.00
R3933:Lepr	UTSW	4	101,622,498 (GRCm39)	splice site	probably benign
R4211:Lepr	UTSW	4	101,590,611 (GRCm39)	missense	probably benign	0.19
R4343:Lepr	UTSW	4	101,622,349 (GRCm39)	critical splice donor site	probably null
R4345:Lepr	UTSW	4	101,622,349 (GRCm39)	critical splice donor site	probably null
R4544:Lepr	UTSW	4	101,625,425 (GRCm39)	missense	possibly damaging	0.96
R4546:Lepr	UTSW	4	101,671,838 (GRCm39)	missense	probably benign	0.35
R4724:Lepr	UTSW	4	101,622,562 (GRCm39)	nonsense	probably null
R4797:Lepr	UTSW	4	101,637,244 (GRCm39)	missense	possibly damaging	0.90
R4860:Lepr	UTSW	4	101,646,534 (GRCm39)	missense	probably benign	0.14
R4860:Lepr	UTSW	4	101,646,534 (GRCm39)	missense	probably benign	0.14
R4929:Lepr	UTSW	4	101,672,314 (GRCm39)	missense	probably benign	0.00
R4939:Lepr	UTSW	4	101,590,635 (GRCm39)	missense	possibly damaging	0.78
R5377:Lepr	UTSW	4	101,672,216 (GRCm39)	missense	possibly damaging	0.71
R5520:Lepr	UTSW	4	101,602,734 (GRCm39)	missense	probably benign	0.00
R5966:Lepr	UTSW	4	101,649,324 (GRCm39)	intron	probably benign
R6092:Lepr	UTSW	4	101,649,220 (GRCm39)	missense	probably damaging	1.00
R6130:Lepr	UTSW	4	101,622,569 (GRCm39)	missense	probably damaging	0.99
R6168:Lepr	UTSW	4	101,592,789 (GRCm39)	missense	probably damaging	0.99
R6232:Lepr	UTSW	4	101,671,588 (GRCm39)	splice site	probably null
R6380:Lepr	UTSW	4	101,622,151 (GRCm39)	nonsense	probably null
R6427:Lepr	UTSW	4	101,631,454 (GRCm39)	missense	possibly damaging	0.47
R6428:Lepr	UTSW	4	101,637,295 (GRCm39)	missense	probably damaging	1.00
R6641:Lepr	UTSW	4	101,622,502 (GRCm39)	missense	probably damaging	0.97
R6650:Lepr	UTSW	4	101,672,398 (GRCm39)	missense	probably damaging	1.00
R6859:Lepr	UTSW	4	101,622,487 (GRCm39)	splice site	probably null
R7023:Lepr	UTSW	4	101,646,484 (GRCm39)	missense	probably damaging	1.00
R7145:Lepr	UTSW	4	101,609,394 (GRCm39)	missense	probably benign	0.00
R7174:Lepr	UTSW	4	101,607,535 (GRCm39)	missense	probably benign	0.01
R7179:Lepr	UTSW	4	101,602,856 (GRCm39)	missense	probably benign	0.06
R7189:Lepr	UTSW	4	101,671,961 (GRCm39)	missense	probably benign	0.00
R7426:Lepr	UTSW	4	101,602,853 (GRCm39)	missense	probably benign	0.03
R7531:Lepr	UTSW	4	101,609,372 (GRCm39)	missense	probably damaging	1.00
R7620:Lepr	UTSW	4	101,609,270 (GRCm39)	missense	probably benign	0.41
R7804:Lepr	UTSW	4	101,639,783 (GRCm39)	missense	probably damaging	1.00
R8022:Lepr	UTSW	4	101,639,754 (GRCm39)	missense	probably benign	0.32
R8142:Lepr	UTSW	4	101,622,616 (GRCm39)	missense	possibly damaging	0.93
R8227:Lepr	UTSW	4	101,628,559 (GRCm39)	missense	probably damaging	0.99
R8426:Lepr	UTSW	4	101,671,841 (GRCm39)	missense	probably benign	0.12
R8447:Lepr	UTSW	4	101,671,688 (GRCm39)	missense	probably benign	0.08
R8531:Lepr	UTSW	4	101,622,612 (GRCm39)	missense	probably damaging	1.00
R8682:Lepr	UTSW	4	101,649,269 (GRCm39)	missense	probably benign	0.00
R8897:Lepr	UTSW	4	101,649,233 (GRCm39)	missense	probably damaging	0.98
R9096:Lepr	UTSW	4	101,631,418 (GRCm39)	missense	possibly damaging	0.95
R9177:Lepr	UTSW	4	101,602,798 (GRCm39)	nonsense	probably null
R9241:Lepr	UTSW	4	101,671,788 (GRCm39)	missense	probably benign
R9604:Lepr	UTSW	4	101,590,473 (GRCm39)	missense	probably benign	0.01
R9711:Lepr	UTSW	4	101,592,851 (GRCm39)	nonsense	probably null
X0026:Lepr	UTSW	4	101,590,524 (GRCm39)	missense	possibly damaging	0.47
Z1176:Lepr	UTSW	4	101,602,811 (GRCm39)	missense	probably damaging	0.99
Z1177:Lepr	UTSW	4	101,592,792 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21