Mutagenetix > Incidental Mutation

Incidental Mutation 'R7320:Lhcgr'

568180

Institutional Source

Beutler Lab

Gene Symbol

Lhcgr

Ensembl Gene

ENSMUSG00000024107

Gene Name

luteinizing hormone/choriogonadotropin receptor

Synonyms

LH-R, Lhr, Gpcr19-rs1

MMRRC Submission

045370-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89023909-89099418 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89049506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 673 (R673S)

Ref Sequence

ENSEMBL: ENSMUSP00000024916 (fasta)

Gene Model

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

AlphaFold

P30730

Predicted Effect

probably benign
Transcript: ENSMUST00000024916
AA Change: R673S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000024916
Gene: ENSMUSG00000024107
AA Change: R673S

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,258,471 (GRCm39)	I458T	probably benign	Het
Adam29	A	G	8: 56,325,749 (GRCm39)	I235T	possibly damaging	Het
Afap1	G	A	5: 36,105,567 (GRCm39)	V174I	probably damaging	Het
Ak8	A	T	2: 28,703,004 (GRCm39)	D456V	probably damaging	Het
Alb	T	C	5: 90,612,846 (GRCm39)		probably null	Het
Alox12	C	T	11: 70,145,298 (GRCm39)	A92T	probably benign	Het
Arhgap23	T	C	11: 97,342,371 (GRCm39)	S218P	probably benign	Het
Blm	G	A	7: 80,105,102 (GRCm39)	Q1389*	probably null	Het
C1ql4	A	T	15: 98,985,605 (GRCm39)	V2E	unknown	Het
Casp12	A	G	9: 5,348,897 (GRCm39)		probably null	Het
Ccdc73	A	T	2: 104,829,521 (GRCm39)	I1065F	possibly damaging	Het
Ccdc83	C	T	7: 89,873,242 (GRCm39)	G371D	probably damaging	Het
Cfap65	A	G	1: 74,965,763 (GRCm39)	S416P	probably damaging	Het
Cftr	T	A	6: 18,319,012 (GRCm39)	C1351S	probably damaging	Het
Clcn4	A	T	7: 7,294,827 (GRCm39)	H311Q	probably benign	Het
Cldn13	T	G	5: 134,943,874 (GRCm39)	I104L	probably benign	Het
Cul9	A	G	17: 46,821,835 (GRCm39)	V1880A	possibly damaging	Het
Ddx17	A	T	15: 79,416,105 (GRCm39)	D407E	probably damaging	Het
Ddx28	G	A	8: 106,737,957 (GRCm39)	P34S	probably damaging	Het
Dnah5	A	T	15: 28,270,616 (GRCm39)	N973Y	probably null	Het
Dnai4	A	T	4: 102,907,384 (GRCm39)	I634N	possibly damaging	Het
Dock10	A	G	1: 80,527,421 (GRCm39)		probably null	Het
Dock3	T	C	9: 106,772,723 (GRCm39)	D510G	probably benign	Het
Dst	T	A	1: 34,230,175 (GRCm39)	D2589E	probably benign	Het
E2f7	T	C	10: 110,599,991 (GRCm39)	Y249H	not run	Het
Eef2kmt	T	C	16: 5,068,373 (GRCm39)	Y69C	possibly damaging	Het
Elapor1	T	A	3: 108,371,619 (GRCm39)	K650*	probably null	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Exog	G	T	9: 119,291,544 (GRCm39)	V274L	possibly damaging	Het
Fam83e	G	A	7: 45,371,896 (GRCm39)	V98M	probably benign	Het
Fras1	C	T	5: 96,857,745 (GRCm39)	T2013I	probably benign	Het
Gart	G	T	16: 91,418,569 (GRCm39)	A970E	probably benign	Het
Gga2	T	A	7: 121,601,326 (GRCm39)	H259L	probably benign	Het
Glis3	C	A	19: 28,508,998 (GRCm39)	V329F	probably damaging	Het
Gm6356	T	A	14: 6,972,923 (GRCm38)	N53I	probably damaging	Het
Golgb1	C	A	16: 36,736,313 (GRCm39)	C1894*	probably null	Het
Ifi203	T	C	1: 173,756,733 (GRCm39)	N350S	unknown	Het
Isy1	T	A	6: 87,810,688 (GRCm39)	R55S	unknown	Het
Itsn1	A	T	16: 91,636,587 (GRCm39)	D678V	unknown	Het
Lnx2	C	A	5: 146,956,943 (GRCm39)	R601L	possibly damaging	Het
Map4	A	G	9: 109,910,585 (GRCm39)	T1093A	probably benign	Het
Minar1	A	G	9: 89,483,679 (GRCm39)	S573P	probably benign	Het
Mink1	A	G	11: 70,489,899 (GRCm39)	K92E	probably benign	Het
Moxd1	A	G	10: 24,177,363 (GRCm39)	I560V	probably benign	Het
Mrc2	C	A	11: 105,220,061 (GRCm39)	D327E	possibly damaging	Het
Notch2	A	G	3: 98,038,643 (GRCm39)	E1262G	possibly damaging	Het
Or2g1	T	A	17: 38,107,248 (GRCm39)	N304K	probably benign	Het
Or4k48	A	G	2: 111,476,297 (GRCm39)	L15S	probably benign	Het
Or52d3	C	A	7: 104,229,645 (GRCm39)	S264*	probably null	Het
Or5an1	G	A	19: 12,261,180 (GRCm39)	G256D	possibly damaging	Het
Or5b120	T	A	19: 13,480,544 (GRCm39)	M279K	possibly damaging	Het
Or5j3	GTACTTTTT	GT	2: 86,128,338 (GRCm39)		probably null	Het
Or5m13	A	T	2: 85,748,718 (GRCm39)	I150F	probably benign	Het
Or6c5b	A	T	10: 129,245,654 (GRCm39)	T140S	possibly damaging	Het
Pcbp2	T	A	15: 102,381,782 (GRCm39)	V5E	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pgghg	A	T	7: 140,522,953 (GRCm39)	Y104F	probably benign	Het
Plscr2	T	C	9: 92,173,193 (GRCm39)		probably null	Het
Ppfibp1	C	T	6: 146,879,551 (GRCm39)	A25V	probably damaging	Het
Ptgfr	C	T	3: 151,541,034 (GRCm39)	G158D	probably benign	Het
Ptgs2	T	C	1: 149,978,446 (GRCm39)	F186S	probably damaging	Het
Ptpn14	A	G	1: 189,564,956 (GRCm39)	E181G	probably benign	Het
Rpgrip1	A	G	14: 52,368,673 (GRCm39)	K291E	possibly damaging	Het
Rtn4rl1	T	C	11: 75,085,122 (GRCm39)		probably null	Het
Sema3b	T	A	9: 107,478,141 (GRCm39)	M415L	probably benign	Het
Sh3bp4	A	G	1: 89,073,216 (GRCm39)	E688G	probably damaging	Het
Slco6c1	G	A	1: 97,055,887 (GRCm39)	R5C	possibly damaging	Het
Slmap	A	G	14: 26,181,227 (GRCm39)	F369L	possibly damaging	Het
Sphk2	T	C	7: 45,361,894 (GRCm39)	N181S	possibly damaging	Het
Sqor	A	G	2: 122,641,730 (GRCm39)	T235A	probably benign	Het
St13	A	G	15: 81,273,854 (GRCm39)	L80P	probably damaging	Het
St3gal6	A	G	16: 58,314,074 (GRCm39)	Y20H	probably benign	Het
Sun1	T	G	5: 139,234,239 (GRCm39)	Y899D	probably damaging	Het
Synm	C	T	7: 67,385,128 (GRCm39)	E845K	possibly damaging	Het
Tg	A	T	15: 66,566,633 (GRCm39)	D1227V	possibly damaging	Het
Thbs1	A	G	2: 117,945,438 (GRCm39)	N306D	possibly damaging	Het
Tmcc3	A	T	10: 94,414,357 (GRCm39)	N51Y	possibly damaging	Het
Usp4	A	G	9: 108,265,505 (GRCm39)	D856G	probably benign	Het
Vil1	G	A	1: 74,457,603 (GRCm39)	A79T	probably damaging	Het
Vmn1r119	T	A	7: 20,746,271 (GRCm39)	H37L	probably damaging	Het
Vmn2r110	A	T	17: 20,816,316 (GRCm39)	M69K	probably benign	Het
Ywhaq	A	G	12: 21,444,982 (GRCm39)	L221P	probably damaging	Het
Zfp142	G	A	1: 74,609,167 (GRCm39)	Q1543*	probably null	Het
Zfp384	T	A	6: 125,001,793 (GRCm39)	M146K	possibly damaging	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
IGL01489:Lhcgr	APN	17	89,072,401 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GGTTTCAATTCACCTGAAGTGC -3'
(R):5'- ACTCAAAAGTTCTGCTGGTCC -3'

Sequencing Primer
(F):5'- TCAATTCACCTGAAGTGCTTAAAG -3'
(R):5'- CGAAGGCATTTCAGAGAG -3'

Posted On

2019-06-26