Mutagenetix > Incidental Mutation

Incidental Mutation 'R6859:Lepr'

537794

Institutional Source

Beutler Lab

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

MMRRC Submission

044961-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6859 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101574601-101672549 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 101622487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102534 (fasta)

Gene Model

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

AlphaFold

P48356

Predicted Effect

probably null
Transcript: ENSMUST00000037552

SMART Domains

Protein: ENSMUSP00000037385
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	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 null
Transcript: ENSMUST00000102777

SMART Domains

Protein: ENSMUSP00000099838
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

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (42/42)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,669,799 (GRCm39)	V788A	possibly damaging	Het
Abca15	A	T	7: 120,002,217 (GRCm39)	K1577*	probably null	Het
Arhgap12	T	C	18: 6,111,803 (GRCm39)	E187G	probably damaging	Het
Arhgef10	T	A	8: 15,025,005 (GRCm39)	Y398N	probably damaging	Het
Baz2b	C	T	2: 59,731,874 (GRCm39)	V2055I	probably benign	Het
Btnl4	T	C	17: 34,688,353 (GRCm39)	D475G	probably damaging	Het
C1qtnf12	T	A	4: 156,050,070 (GRCm39)	F190Y	probably damaging	Het
Cacul1	A	G	19: 60,522,683 (GRCm39)	S284P	probably damaging	Het
Ccdc166	C	A	15: 75,853,820 (GRCm39)	V87L	possibly damaging	Het
Ceacam13	C	T	7: 17,747,032 (GRCm39)	P162S	probably damaging	Het
Cep250	T	A	2: 155,834,446 (GRCm39)	S2124T	probably benign	Het
Chd5	T	C	4: 152,462,664 (GRCm39)	S1372P	probably damaging	Het
Chil3	C	A	3: 106,067,730 (GRCm39)	R145L	probably benign	Het
Cyp4f40	T	C	17: 32,894,923 (GRCm39)	S454P	probably benign	Het
Defa3	T	A	8: 21,778,213 (GRCm39)	C66S	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Glmp	C	A	3: 88,235,349 (GRCm39)	N260K	probably benign	Het
Gsap	T	A	5: 21,486,016 (GRCm39)	L653Q	probably damaging	Het
Il18rap	T	A	1: 40,564,255 (GRCm39)	Y124*	probably null	Het
Lao1	A	C	4: 118,820,948 (GRCm39)	K58T	probably damaging	Het
Mrgpra3	G	C	7: 47,239,781 (GRCm39)	I48M	probably benign	Het
Nck2	T	G	1: 43,593,511 (GRCm39)	N239K	probably benign	Het
Optc	A	T	1: 133,825,554 (GRCm39)	V324E	possibly damaging	Het
Or12k7	A	T	2: 36,958,794 (GRCm39)	Y159F	probably damaging	Het
Or4p8	A	G	2: 88,727,278 (GRCm39)	I221T	probably benign	Het
Or51b6	G	A	7: 103,555,908 (GRCm39)	W84*	probably null	Het
Otog	T	C	7: 45,923,205 (GRCm39)	S1027P	probably damaging	Het
Plbd2	A	G	5: 120,641,407 (GRCm39)	F84L	probably benign	Het
Plxnb1	T	C	9: 108,935,838 (GRCm39)	L110P	probably damaging	Het
Prnp	T	C	2: 131,778,708 (GRCm39)	V120A	possibly damaging	Het
Ptprh	C	A	7: 4,552,370 (GRCm39)	E965*	probably null	Het
Reln	T	C	5: 22,239,568 (GRCm39)	T900A	probably damaging	Het
Stt3a	A	G	9: 36,646,682 (GRCm39)	Y644H	probably damaging	Het
Sulf2	A	G	2: 165,929,039 (GRCm39)	Y311H	probably damaging	Het
Tbc1d32	A	T	10: 56,056,626 (GRCm39)	I438N	probably damaging	Het
Tbcd	T	C	11: 121,387,937 (GRCm39)	V356A	possibly damaging	Het
Tecta	T	C	9: 42,303,425 (GRCm39)	N69S	probably damaging	Het
Topaz1	T	C	9: 122,631,023 (GRCm39)	V1618A	probably benign	Het
Usp48	C	T	4: 137,352,587 (GRCm39)	T627I	possibly damaging	Het
Vcl	T	C	14: 21,037,143 (GRCm39)	V247A	probably damaging	Het
Vmn2r59	A	G	7: 41,693,277 (GRCm39)	L441P	probably damaging	Het
Zfp869	C	T	8: 70,159,175 (GRCm39)	G466D	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGGAAGTTTACCTATGACGCAG -3'
(R):5'- AGAACCTTTAACTGTGCCATCC -3'

Sequencing Primer
(F):5'- CAGTGTACTGCTGCAATGAGC -3'
(R):5'- TTAACTGTGCCATCCCCAGGG -3'

Posted On

2018-10-18