Mutagenetix > Incidental Mutation

Incidental Mutation 'R7282:Lhcgr'

565763

Institutional Source

Beutler Lab

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 #

R7282 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89023909-89099418 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89065811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 193 (V193I)

Ref Sequence

ENSEMBL: ENSMUSP00000024916 (fasta)

Gene Model

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

AlphaFold

P30730

Predicted Effect

probably benign
Transcript: ENSMUST00000024916
AA Change: V193I

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

SMART Domains

Protein: ENSMUSP00000024916
Gene: ENSMUSG00000024107
AA Change: V193I

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: 99.7%
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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	C	A	11: 58,316,582 (GRCm39)	D187E	probably damaging	Het
Abl2	T	C	1: 156,457,630 (GRCm39)	Y299H	probably damaging	Het
Acsl3	T	A	1: 78,659,709 (GRCm39)	N120K	probably damaging	Het
Aldh1a1	A	G	19: 20,606,434 (GRCm39)	K255R	possibly damaging	Het
Baz2b	C	T	2: 59,750,781 (GRCm39)	R1205H	probably benign	Het
Btbd8	G	T	5: 107,655,062 (GRCm39)	V954L	probably benign	Het
Btbd8	A	G	5: 107,658,371 (GRCm39)	D1647G	probably damaging	Het
Carmil1	A	G	13: 24,197,387 (GRCm39)	S1350P	probably benign	Het
Cecr2	A	T	6: 120,738,582 (GRCm39)	N325I		Het
Cep120	C	T	18: 53,873,161 (GRCm39)	A57T	probably damaging	Het
Chst8	T	C	7: 34,447,628 (GRCm39)		probably null	Het
Cntn4	A	T	6: 106,502,421 (GRCm39)	I393F	probably damaging	Het
Crocc	T	C	4: 140,749,652 (GRCm39)	D1494G	probably damaging	Het
Cwc25	T	C	11: 97,638,832 (GRCm39)	E364G	possibly damaging	Het
Dnah7a	C	A	1: 53,724,059 (GRCm39)		probably null	Het
Drg2	A	G	11: 60,345,519 (GRCm39)	E5G	probably benign	Het
Ehd4	T	C	2: 119,921,729 (GRCm39)	H509R	probably damaging	Het
Enam	A	T	5: 88,650,186 (GRCm39)	N565I	probably damaging	Het
Evi2a	G	T	11: 79,418,249 (GRCm39)	N120K	probably benign	Het
Faim	A	G	9: 98,874,179 (GRCm39)	T2A	probably benign	Het
Fcgbpl1	A	G	7: 27,843,833 (GRCm39)	N907S	probably benign	Het
Fmnl1	T	C	11: 103,087,091 (GRCm39)	V836A	unknown	Het
Fosb	T	C	7: 19,039,113 (GRCm39)	I224V	possibly damaging	Het
Frem3	A	T	8: 81,338,660 (GRCm39)	T318S	probably damaging	Het
Gm9972	G	A	11: 42,927,631 (GRCm39)	G93R	unknown	Het
Gtf2a1	A	T	12: 91,534,609 (GRCm39)	I215N	possibly damaging	Het
Hs3st3b1	A	G	11: 63,812,397 (GRCm39)	V106A	probably benign	Het
Igkv19-93	T	C	6: 68,713,485 (GRCm39)	D48G	probably benign	Het
Itgb8	A	T	12: 119,201,443 (GRCm39)	W31R	probably benign	Het
Kmt2d	A	T	15: 98,751,985 (GRCm39)	W1995R	unknown	Het
Lama3	G	T	18: 12,572,449 (GRCm39)	Q551H	probably damaging	Het
Lama5	T	C	2: 179,843,588 (GRCm39)	Y453C	probably damaging	Het
Lbhd2	G	A	12: 111,376,724 (GRCm39)	R57H	probably damaging	Het
Lcmt2	A	G	2: 120,969,271 (GRCm39)	V384A	probably damaging	Het
Lgsn	T	G	1: 31,242,452 (GRCm39)	L178R	probably damaging	Het
Lta4h	T	C	10: 93,289,373 (GRCm39)	M1T	probably null	Het
Ly6l	T	C	15: 75,321,345 (GRCm39)	S14P	probably damaging	Het
Met	C	A	6: 17,547,011 (GRCm39)	C881*	probably null	Het
Mettl21e	A	T	1: 44,249,399 (GRCm39)	Y86N	probably damaging	Het
Mgam	A	G	6: 40,740,045 (GRCm39)	T1673A	probably benign	Het
Mgam	A	T	6: 40,633,446 (GRCm39)	N251Y	possibly damaging	Het
Mmp27	T	A	9: 7,578,231 (GRCm39)	V357D	probably damaging	Het
Muc2	A	G	7: 141,306,481 (GRCm39)	E740G		Het
Myoc	C	A	1: 162,476,413 (GRCm39)	S372R	probably benign	Het
Ncor2	A	T	5: 125,097,104 (GRCm39)	M1358K		Het
Nol6	A	G	4: 41,119,468 (GRCm39)	S613P	probably benign	Het
Nuggc	T	A	14: 65,855,072 (GRCm39)	I334N	probably damaging	Het
Nxnl2	C	T	13: 51,325,542 (GRCm39)	P62S	probably damaging	Het
Ogfod1	C	T	8: 94,764,067 (GRCm39)	H51Y	possibly damaging	Het
Olfml1	T	A	7: 107,189,530 (GRCm39)	D198E	possibly damaging	Het
Or2t26	A	C	11: 49,039,945 (GRCm39)	N287T	probably damaging	Het
Ovch2	C	T	7: 107,393,577 (GRCm39)	R183H	possibly damaging	Het
Plxnd1	A	T	6: 115,937,798 (GRCm39)	L1516Q	probably damaging	Het
Pramel27	A	G	4: 143,578,451 (GRCm39)	N237S	possibly damaging	Het
Prrc2c	A	G	1: 162,507,543 (GRCm39)	V2448A	possibly damaging	Het
Rexo5	C	T	7: 119,417,636 (GRCm39)	T212I	probably damaging	Het
Rgl2	C	T	17: 34,152,403 (GRCm39)	R367W	probably damaging	Het
Rnf213	T	G	11: 119,328,818 (GRCm39)	I2030S		Het
Rtf1	C	T	2: 119,505,580 (GRCm39)	A11V	unknown	Het
Setdb1	T	G	3: 95,245,985 (GRCm39)	T647P	probably damaging	Het
Shisa6	G	C	11: 66,393,480 (GRCm39)	P272R	possibly damaging	Het
Slc25a54	G	T	3: 109,023,817 (GRCm39)	G471*	probably null	Het
Slc30a1	A	G	1: 191,641,544 (GRCm39)	T397A	probably benign	Het
Slc7a14	A	G	3: 31,281,302 (GRCm39)	F336S	possibly damaging	Het
Slitrk3	C	T	3: 72,957,798 (GRCm39)	V325I	possibly damaging	Het
Sptan1	A	G	2: 29,876,941 (GRCm39)	Y361C	probably damaging	Het
Stard9	A	G	2: 120,528,984 (GRCm39)	D1747G	probably benign	Het
Taf3	T	C	2: 9,956,253 (GRCm39)	E638G	probably damaging	Het
Tbc1d8	T	C	1: 39,411,614 (GRCm39)	D1074G	probably benign	Het
Tecrl	G	A	5: 83,502,754 (GRCm39)	H32Y	probably benign	Het
Tgm3	T	A	2: 129,866,481 (GRCm39)	M133K	probably benign	Het
Tmem131	A	G	1: 36,880,685 (GRCm39)	F195S	probably damaging	Het
Tmem82	T	C	4: 141,342,261 (GRCm39)	I314V	possibly damaging	Het
Trappc10	T	C	10: 78,043,327 (GRCm39)	E555G	probably damaging	Het
Ubn2	A	T	6: 38,429,811 (GRCm39)	K176*	probably null	Het
Ucp1	G	A	8: 84,020,531 (GRCm39)	G114R	probably benign	Het
Unc5c	A	G	3: 141,383,751 (GRCm39)	D43G	probably damaging	Het
Vmn2r3	C	T	3: 64,168,825 (GRCm39)	V571M	possibly damaging	Het
Vwa3a	A	T	7: 120,385,688 (GRCm39)	I677L	probably benign	Het
Wdr48	T	C	9: 119,740,147 (GRCm39)	S319P	probably 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
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

Predicted Primers

PCR Primer
(F):5'- TGCCTAGTAACACGCATGCAAC -3'
(R):5'- GGGGCAGTAAGAACAGCTTC -3'

Sequencing Primer
(F):5'- AACTCGGAGGACTAGCCACTTG -3'
(R):5'- GCCTCCCAACTCCAAAATGTTG -3'

Posted On

2019-06-26