Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01489:Lhcgr'

88803

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lhcgr

Ensembl Gene

ENSMUSG00000024107

Gene Name

luteinizing hormone/choriogonadotropin receptor

Synonyms

LH-R, Lhr, Gpcr19-rs1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01489

Quality Score

Status

Chromosome

Chromosomal Location

89023909-89099418 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 89072401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000024916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024916]

AlphaFold

P30730

Predicted Effect

probably benign
Transcript: ENSMUST00000024916

SMART Domains

Protein: ENSMUSP00000024916
Gene: ENSMUSG00000024107

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
LRRNT	33	66	4.4e0	SMART
Pfam:LRR_5	155	273	2.9e-5	PFAM
Pfam:7tm_1	380	627	1.2e-29	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are infertile and have abnormal hormone levels. Males have undescended testes, immature external and accessory sex organs and blocked spermatogenesis. Females have small ovaries and uteri, immature follicles and do not cycle. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 5 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
Abcg2	T	G	6: 58,662,808 (GRCm39)	probably null	Het
Dgkb	T	C	12: 38,177,384 (GRCm39)	probably null	Het
Dock1	A	G	7: 134,601,050 (GRCm39)	probably benign	Het
Lifr	A	G	15: 7,205,037 (GRCm39)	probably benign	Het
Pdk2	T	C	11: 94,922,848 (GRCm39)	probably null	Het

Other mutations in Lhcgr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Lhcgr	APN	17	89,049,874 (GRCm39)	missense	probably benign
IGL00661:Lhcgr	APN	17	89,057,546 (GRCm39)	missense	probably benign
IGL00840:Lhcgr	APN	17	89,061,164 (GRCm39)	splice site	probably benign
IGL01434:Lhcgr	APN	17	89,049,865 (GRCm39)	missense	probably damaging	1.00
IGL02077:Lhcgr	APN	17	89,057,558 (GRCm39)	missense	probably benign	0.06
IGL02533:Lhcgr	APN	17	89,049,838 (GRCm39)	missense	probably benign	0.00
IGL02948:Lhcgr	APN	17	89,050,050 (GRCm39)	missense	probably damaging	1.00
capybara	UTSW	17	89,050,014 (GRCm39)	nonsense	probably null
coro	UTSW	17	89,049,677 (GRCm39)	nonsense	probably null
nutria	UTSW	17	89,049,801 (GRCm39)	missense	probably damaging	1.00
R0101:Lhcgr	UTSW	17	89,072,598 (GRCm39)	missense	probably damaging	1.00
R0101:Lhcgr	UTSW	17	89,072,598 (GRCm39)	missense	probably damaging	1.00
R0556:Lhcgr	UTSW	17	89,079,491 (GRCm39)	missense	probably damaging	0.99
R1824:Lhcgr	UTSW	17	89,057,585 (GRCm39)	missense	probably benign	0.00
R1846:Lhcgr	UTSW	17	89,072,575 (GRCm39)	critical splice donor site	probably null
R1852:Lhcgr	UTSW	17	89,072,604 (GRCm39)	missense	probably damaging	0.99
R2352:Lhcgr	UTSW	17	89,049,727 (GRCm39)	missense	possibly damaging	0.52
R3147:Lhcgr	UTSW	17	89,065,771 (GRCm39)	missense	probably damaging	0.96
R3756:Lhcgr	UTSW	17	89,061,284 (GRCm39)	missense	possibly damaging	0.77
R4180:Lhcgr	UTSW	17	89,049,711 (GRCm39)	missense	probably damaging	1.00
R4540:Lhcgr	UTSW	17	89,063,036 (GRCm39)	missense	probably benign
R4688:Lhcgr	UTSW	17	89,072,580 (GRCm39)	missense	probably damaging	0.99
R4717:Lhcgr	UTSW	17	89,049,895 (GRCm39)	missense	probably benign	0.00
R4723:Lhcgr	UTSW	17	89,050,030 (GRCm39)	missense	probably benign	0.09
R4776:Lhcgr	UTSW	17	89,050,125 (GRCm39)	missense	probably damaging	1.00
R4903:Lhcgr	UTSW	17	89,049,789 (GRCm39)	missense	probably damaging	1.00
R5195:Lhcgr	UTSW	17	89,050,374 (GRCm39)	missense	probably damaging	1.00
R5231:Lhcgr	UTSW	17	89,063,039 (GRCm39)	missense	probably damaging	1.00
R5361:Lhcgr	UTSW	17	89,050,281 (GRCm39)	missense	probably damaging	1.00
R5683:Lhcgr	UTSW	17	89,079,447 (GRCm39)	missense	probably benign	0.00
R5758:Lhcgr	UTSW	17	89,049,976 (GRCm39)	missense	probably damaging	0.99
R5929:Lhcgr	UTSW	17	89,050,436 (GRCm39)	nonsense	probably null
R5987:Lhcgr	UTSW	17	89,063,006 (GRCm39)	missense	probably damaging	1.00
R6268:Lhcgr	UTSW	17	89,050,132 (GRCm39)	missense	probably damaging	1.00
R6477:Lhcgr	UTSW	17	89,049,801 (GRCm39)	missense	probably damaging	1.00
R6610:Lhcgr	UTSW	17	89,077,307 (GRCm39)	missense	possibly damaging	0.93
R7234:Lhcgr	UTSW	17	89,099,359 (GRCm39)	missense	possibly damaging	0.96
R7282:Lhcgr	UTSW	17	89,065,811 (GRCm39)	missense	probably benign
R7320:Lhcgr	UTSW	17	89,049,506 (GRCm39)	missense	probably benign
R7398:Lhcgr	UTSW	17	89,079,474 (GRCm39)	missense	probably benign	0.03
R7710:Lhcgr	UTSW	17	89,050,210 (GRCm39)	missense	probably damaging	1.00
R8034:Lhcgr	UTSW	17	89,049,784 (GRCm39)	missense	probably damaging	1.00
R8108:Lhcgr	UTSW	17	89,049,478 (GRCm39)	nonsense	probably null
R8150:Lhcgr	UTSW	17	89,049,677 (GRCm39)	nonsense	probably null
R8151:Lhcgr	UTSW	17	89,049,677 (GRCm39)	nonsense	probably null
R8236:Lhcgr	UTSW	17	89,050,014 (GRCm39)	nonsense	probably null
R8901:Lhcgr	UTSW	17	89,063,030 (GRCm39)	missense	probably damaging	1.00
R8916:Lhcgr	UTSW	17	89,061,170 (GRCm39)	critical splice donor site	probably null
R9632:Lhcgr	UTSW	17	89,049,532 (GRCm39)	missense	probably benign
R9716:Lhcgr	UTSW	17	89,050,446 (GRCm39)	missense	probably damaging	1.00
U24488:Lhcgr	UTSW	17	89,079,513 (GRCm39)	critical splice acceptor site	probably null
X0028:Lhcgr	UTSW	17	89,050,150 (GRCm39)	missense	probably damaging	1.00
Z1176:Lhcgr	UTSW	17	89,049,698 (GRCm39)	missense	probably damaging	1.00
Z1177:Lhcgr	UTSW	17	89,072,409 (GRCm39)	critical splice donor site	probably null
Z1177:Lhcgr	UTSW	17	89,061,333 (GRCm39)	missense	probably benign	0.00

Posted On

2013-11-18