Mutagenetix > Incidental Mutation

Incidental Mutation 'R0487:Lepr'

42329

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

038686-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0487 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

101574601-101672549 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 101625290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 482 (E482*)

Ref Sequence

ENSEMBL: ENSMUSP00000102534 (fasta)

Gene Model

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

AlphaFold

P48356

Predicted Effect

probably null
Transcript: ENSMUST00000037552
AA Change: E482*

SMART Domains

Protein: ENSMUSP00000037385
Gene: ENSMUSG00000057722
AA Change: E482*

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
AA Change: E482*

SMART Domains

Protein: ENSMUSP00000099838
Gene: ENSMUSG00000057722
AA Change: E482*

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
AA Change: E482*

SMART Domains

Protein: ENSMUSP00000102534
Gene: ENSMUSG00000057722
AA Change: E482*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156402

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,281,687 (GRCm39)	M3190L	probably benign	Het
Adgrv1	A	T	13: 81,637,154 (GRCm39)	L3429H	probably damaging	Het
Ahnak	A	G	19: 8,991,484 (GRCm39)	D4256G	probably damaging	Het
Ahnak	A	G	19: 8,984,515 (GRCm39)	N1933S	probably benign	Het
Amacr	A	G	15: 10,984,835 (GRCm39)	D151G	probably benign	Het
Ano9	A	T	7: 140,687,762 (GRCm39)	H255Q	possibly damaging	Het
Asphd2	A	T	5: 112,539,501 (GRCm39)	Y111N	possibly damaging	Het
Cage1	T	A	13: 38,209,334 (GRCm39)	K214N	probably benign	Het
Cdkn2c	A	G	4: 109,518,606 (GRCm39)	L116P	probably damaging	Het
Cltc	C	T	11: 86,624,490 (GRCm39)	R148H	probably damaging	Het
Cmbl	A	G	15: 31,582,176 (GRCm39)	N58D	probably damaging	Het
Cpa6	T	C	1: 10,479,487 (GRCm39)	T249A	possibly damaging	Het
Cpsf1	T	A	15: 76,481,202 (GRCm39)	N1218I	probably damaging	Het
Csf2rb	T	C	15: 78,232,531 (GRCm39)	S613P	probably benign	Het
Ctnnd1	A	G	2: 84,439,411 (GRCm39)	S761P	probably damaging	Het
Cxcr6	A	C	9: 123,639,463 (GRCm39)	I155L	probably benign	Het
Ecpas	A	G	4: 58,819,155 (GRCm39)	V1265A	probably damaging	Het
Fam216a	A	G	5: 122,508,576 (GRCm39)		probably null	Het
Fgf10	T	A	13: 118,918,147 (GRCm39)		probably null	Het
Fgf17	T	C	14: 70,875,996 (GRCm39)	T79A	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gm1527	G	T	3: 28,980,828 (GRCm39)	V643L	probably benign	Het
Hmcn2	A	T	2: 31,276,689 (GRCm39)	Q1556L	possibly damaging	Het
Hspa4l	C	T	3: 40,738,758 (GRCm39)	T616I	possibly damaging	Het
Irag2	A	G	6: 145,110,986 (GRCm39)	S264G	probably benign	Het
Irgm1	T	C	11: 48,757,154 (GRCm39)	D219G	probably damaging	Het
Jcad	A	G	18: 4,673,243 (GRCm39)	D335G	probably damaging	Het
Kcnh4	A	G	11: 100,641,084 (GRCm39)	F455S	probably damaging	Het
Khdrbs3	T	C	15: 68,889,210 (GRCm39)	Y120H	probably damaging	Het
Kndc1	A	T	7: 139,493,939 (GRCm39)	T507S	probably null	Het
Mcemp1	T	A	8: 3,717,507 (GRCm39)	M146K	probably benign	Het
Mllt10	A	G	2: 18,211,948 (GRCm39)	T411A	probably damaging	Het
Myh8	A	T	11: 67,192,837 (GRCm39)	I1543L	probably benign	Het
Myo1f	T	C	17: 33,797,258 (GRCm39)	S147P	probably damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Or5j1	C	T	2: 86,878,837 (GRCm39)	V248I	probably damaging	Het
Plaat1	G	A	16: 29,039,331 (GRCm39)		probably null	Het
Plch2	G	A	4: 155,093,469 (GRCm39)	R57C	probably damaging	Het
Rbm20	G	A	19: 53,839,626 (GRCm39)	G872R	probably damaging	Het
Retsat	A	T	6: 72,583,414 (GRCm39)	I373F	probably damaging	Het
Rnf145	T	C	11: 44,446,056 (GRCm39)	F297L	probably benign	Het
Ros1	A	T	10: 52,031,204 (GRCm39)	M479K	possibly damaging	Het
Rubcnl	T	A	14: 75,273,521 (GRCm39)	N244K	probably benign	Het
Samhd1	A	G	2: 156,952,535 (GRCm39)	F406L	probably damaging	Het
Sdsl	A	T	5: 120,597,533 (GRCm39)	V258D	probably damaging	Het
Sec24c	C	G	14: 20,733,467 (GRCm39)	P166A	probably benign	Het
Sele	C	A	1: 163,881,184 (GRCm39)	Y461*	probably null	Het
Slc22a1	G	T	17: 12,881,487 (GRCm39)	S334*	probably null	Het
Spem1	T	G	11: 69,712,691 (GRCm39)		probably null	Het
Stat3	T	C	11: 100,794,469 (GRCm39)	E280G	probably damaging	Het
Stxbp4	T	C	11: 90,483,186 (GRCm39)	H280R	probably benign	Het
Tas2r129	G	A	6: 132,928,906 (GRCm39)	C281Y	probably benign	Het
Tas2r129	T	G	6: 132,928,907 (GRCm39)	C281W	probably benign	Het
Tcp11	T	A	17: 28,298,897 (GRCm39)		probably null	Het
Tnrc6b	G	A	15: 80,764,876 (GRCm39)	V793M	probably benign	Het
Vmn2r59	A	C	7: 41,696,528 (GRCm39)	Y71*	probably null	Het
Wdr35	T	C	12: 9,062,743 (GRCm39)		probably null	Het
Zan	A	G	5: 137,411,620 (GRCm39)		probably null	Het
Zap70	G	T	1: 36,818,365 (GRCm39)	V351L	probably damaging	Het
Zfp609	G	T	9: 65,609,916 (GRCm39)	Q1016K	unknown	Het
Zfp641	C	A	15: 98,187,060 (GRCm39)	V188L	probably benign	Het
Zpld2	A	T	4: 133,930,089 (GRCm39)	L72Q	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
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

Predicted Primers

PCR Primer
(F):5'- TTCTAGGGTAACCACCACAGTCCTGC -3'
(R):5'- TACCTACGGAGTCAGGAAGGACACAC -3'

Sequencing Primer
(F):5'- GTTTGTGGAAAGACTAAAATCCAGC -3'
(R):5'- ACACACGTTGGTGGCGAG -3'

Posted On

2013-05-23