Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03160:Lepr'

411372

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 #

IGL03160

Quality Score

Status

Chromosome

Chromosomal Location

101574601-101672549 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101622103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 345 (N345I)

Ref Sequence

ENSEMBL: ENSMUSP00000102534 (fasta)

Gene Model

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

AlphaFold

P48356

Predicted Effect

probably damaging
Transcript: ENSMUST00000037552
AA Change: N345I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037385
Gene: ENSMUSG00000057722
AA Change: N345I

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 damaging
Transcript: ENSMUST00000102777
AA Change: N345I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099838
Gene: ENSMUSG00000057722
AA Change: N345I

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 damaging
Transcript: ENSMUST00000106921
AA Change: N345I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102534
Gene: ENSMUSG00000057722
AA Change: N345I

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

noncoding transcript
Transcript: ENSMUST00000128948

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	C	13: 111,392,462 (GRCm39)	S266P	probably benign	Het
Agrn	A	T	4: 156,254,820 (GRCm39)	F1525Y	probably damaging	Het
Akap13	T	C	7: 75,380,165 (GRCm39)	V2165A	probably damaging	Het
Ccn6	T	C	10: 39,029,233 (GRCm39)	T232A	probably damaging	Het
Cd109	G	T	9: 78,568,338 (GRCm39)		probably null	Het
Cdhr4	A	C	9: 107,873,068 (GRCm39)	T339P	probably benign	Het
Chek1	T	C	9: 36,633,941 (GRCm39)	H128R	probably damaging	Het
Clcn7	T	A	17: 25,365,427 (GRCm39)		probably benign	Het
Dnah9	A	G	11: 65,998,880 (GRCm39)	F1056S	probably damaging	Het
Eml3	A	T	19: 8,912,319 (GRCm39)	Q372L	probably benign	Het
Fam161b	T	C	12: 84,400,599 (GRCm39)	T458A	probably benign	Het
Fbxo3	T	A	2: 103,860,692 (GRCm39)	C36*	probably null	Het
Gm28042	T	A	2: 119,866,309 (GRCm39)	I369N	possibly damaging	Het
Gpc1	A	G	1: 92,785,579 (GRCm39)	Y423C	probably damaging	Het
Heatr5a	A	G	12: 51,931,279 (GRCm39)		probably benign	Het
Hectd4	A	T	5: 121,397,942 (GRCm39)	Y290F	probably benign	Het
Ifi207	T	C	1: 173,562,670 (GRCm39)		probably benign	Het
Kndc1	A	T	7: 139,500,605 (GRCm39)	K657*	probably null	Het
Lama5	T	C	2: 179,822,128 (GRCm39)	T2927A	probably damaging	Het
Mtbp	T	C	15: 55,484,013 (GRCm39)		probably benign	Het
Muc1	G	A	3: 89,140,331 (GRCm39)	V608I	possibly damaging	Het
Or56a3	A	G	7: 104,735,520 (GRCm39)	N199S	probably damaging	Het
P2ry13	A	G	3: 59,117,496 (GRCm39)	L94P	probably damaging	Het
Retreg3	G	T	11: 100,990,501 (GRCm39)	Q89K	probably benign	Het
Rhoq	A	C	17: 87,304,349 (GRCm39)	Y160S	probably damaging	Het
Samd9l	A	T	6: 3,374,894 (GRCm39)	V789D	probably damaging	Het
Slc35f5	T	C	1: 125,502,472 (GRCm39)	S275P	probably damaging	Het
Slc51a	G	A	16: 32,297,568 (GRCm39)	R110C	probably damaging	Het
Snapc1	T	A	12: 74,016,978 (GRCm39)	H205Q	probably damaging	Het
Stard3	G	T	11: 98,269,737 (GRCm39)	R352L	probably damaging	Het
Stat5a	A	G	11: 100,752,671 (GRCm39)	I85V	possibly damaging	Het
Tenm3	A	T	8: 49,099,453 (GRCm39)	D117E	probably benign	Het
Tg	T	A	15: 66,711,152 (GRCm39)	C971*	probably null	Het
Tnrc6c	T	A	11: 117,640,651 (GRCm39)		probably benign	Het
Tra2a	C	T	6: 49,240,798 (GRCm39)	V4I	possibly damaging	Het
Trim54	C	T	5: 31,289,424 (GRCm39)	T145I	probably damaging	Het
Vmn2r75	T	C	7: 85,797,644 (GRCm39)	D723G	probably damaging	Het
Wnk1	T	C	6: 119,903,594 (GRCm39)	T2042A	probably damaging	Het
Zfp87	T	C	13: 67,669,392 (GRCm39)	E18G	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
IGL01111:Lepr	APN	4	101,671,852 (GRCm39)	missense	possibly damaging	0.77
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
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

2016-08-02