Incidental Mutation 'R4776:Lhcgr'
ID 367978
Institutional Source Beutler Lab
Gene Symbol Lhcgr
Ensembl Gene ENSMUSG00000024107
Gene Name luteinizing hormone/choriogonadotropin receptor
Synonyms LH-R, Lhr, Gpcr19-rs1
MMRRC Submission 042413-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4776 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 89023909-89099418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89050125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 467 (E467G)
Ref Sequence ENSEMBL: ENSMUSP00000024916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024916]
AlphaFold P30730
Predicted Effect probably damaging
Transcript: ENSMUST00000024916
AA Change: E467G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024916
Gene: ENSMUSG00000024107
AA Change: E467G

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.8356 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 98% (94/96)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A T 10: 76,293,346 (GRCm39) M156L probably benign Het
4930470P17Rik C T 2: 170,421,644 (GRCm39) A79T unknown Het
4930522L14Rik A G 5: 109,884,739 (GRCm39) I373T probably benign Het
Amotl1 G A 9: 14,504,669 (GRCm39) Q217* probably null Het
Ankrd28 A T 14: 31,454,011 (GRCm39) C254S probably damaging Het
Ap2a1 A G 7: 44,550,970 (GRCm39) probably benign Het
Arfgef3 A T 10: 18,529,995 (GRCm39) S245T probably benign Het
Atp1b2 A T 11: 69,492,387 (GRCm39) D224E probably damaging Het
Bmal1 A T 7: 112,884,244 (GRCm39) K94I probably damaging Het
Boc G A 16: 44,308,084 (GRCm39) R924W probably damaging Het
Btbd8 C A 5: 107,658,317 (GRCm39) A1117E probably damaging Het
Car14 C T 3: 95,806,185 (GRCm39) G292D probably benign Het
Cenpb T C 2: 131,020,103 (GRCm39) probably benign Het
Ces1b A T 8: 93,789,658 (GRCm39) D423E possibly damaging Het
Cfap54 T A 10: 92,808,556 (GRCm39) N1373I possibly damaging Het
Chrdl2 T C 7: 99,655,748 (GRCm39) probably benign Het
Cic T G 7: 24,982,308 (GRCm39) S12A possibly damaging Het
Csmd2 A T 4: 128,336,685 (GRCm39) Q1421L probably benign Het
D630039A03Rik T C 4: 57,910,452 (GRCm39) H120R possibly damaging Het
Dicer1 T A 12: 104,658,705 (GRCm39) D1779V probably damaging Het
Dock9 G T 14: 121,847,509 (GRCm39) H1016N possibly damaging Het
Dxo T C 17: 35,057,974 (GRCm39) L352P probably damaging Het
Eif2b5 T A 16: 20,318,983 (GRCm39) F78I probably damaging Het
Eri2 A G 7: 119,384,169 (GRCm39) probably benign Het
Fbxw7 T G 3: 84,832,996 (GRCm39) L13V possibly damaging Het
Fgf7 T A 2: 125,877,703 (GRCm39) C23* probably null Het
Fubp1 T A 3: 151,927,705 (GRCm39) probably null Het
Gm2663 A T 6: 40,972,887 (GRCm39) I240N probably damaging Het
Gnb1l C T 16: 18,366,846 (GRCm39) Q140* probably null Het
Gnptab G A 10: 88,272,390 (GRCm39) R1010Q probably damaging Het
Gtf2h1 G A 7: 46,472,302 (GRCm39) W544* probably null Het
Gucy2c C T 6: 136,699,512 (GRCm39) E586K probably damaging Het
Hc T A 2: 34,929,746 (GRCm39) E232V probably benign Het
Ifi207 T A 1: 173,557,622 (GRCm39) D372V unknown Het
Igkv8-28 A T 6: 70,121,102 (GRCm39) V15E probably benign Het
Il1rap A G 16: 26,511,549 (GRCm39) S198G possibly damaging Het
Lct A G 1: 128,228,124 (GRCm39) I1123T probably damaging Het
Macf1 C T 4: 123,369,808 (GRCm39) R86K probably benign Het
Maml3 T A 3: 51,763,953 (GRCm39) Q337L probably benign Het
Marchf10 T A 11: 105,280,863 (GRCm39) D474V probably benign Het
Marchf2 G T 17: 33,928,890 (GRCm39) T2K probably damaging Het
Mast1 A G 8: 85,663,822 (GRCm39) probably null Het
Med12l T C 3: 59,140,633 (GRCm39) I868T probably damaging Het
Msrb1 T C 17: 24,959,147 (GRCm39) S100P probably damaging Het
Nlrp4c T C 7: 6,069,125 (GRCm39) L342P probably benign Het
Nrxn3 T A 12: 90,298,730 (GRCm39) V417E possibly damaging Het
Ntng1 T A 3: 109,842,029 (GRCm39) D248V probably damaging Het
Oaz3 T C 3: 94,342,305 (GRCm39) Q117R probably benign Het
Or2a56 A G 6: 42,932,455 (GRCm39) I8V probably benign Het
Or4f58 A G 2: 111,851,276 (GRCm39) Y308H probably benign Het
Or52e2 A G 7: 102,804,621 (GRCm39) L111P probably benign Het
Osbpl3 A C 6: 50,277,953 (GRCm39) S767A probably benign Het
Pafah1b1 A T 11: 74,576,697 (GRCm39) probably benign Het
Pard6b A G 2: 167,940,708 (GRCm39) T232A probably damaging Het
Paxip1 A T 5: 27,970,204 (GRCm39) C596S probably damaging Het
Pnpla6 T C 8: 3,573,818 (GRCm39) V422A probably benign Het
Psmd6 A T 14: 14,120,932 (GRCm38) probably benign Het
Relch T A 1: 105,647,260 (GRCm39) Y683* probably null Het
Rock2 T A 12: 17,027,741 (GRCm39) C1353S probably damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Sel1l T A 12: 91,780,667 (GRCm39) H658L probably damaging Het
Sh3yl1 T A 12: 30,990,313 (GRCm39) L105Q probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sirt1 T C 10: 63,171,501 (GRCm39) K227E probably benign Het
Slc25a34 A T 4: 141,350,899 (GRCm39) F37I possibly damaging Het
Slc39a5 T A 10: 128,232,918 (GRCm39) I378F probably damaging Het
Smarcad1 A T 6: 65,075,808 (GRCm39) D731V probably null Het
Sox6 T G 7: 115,140,905 (GRCm39) K483N probably damaging Het
Sp140 T A 1: 85,538,549 (GRCm39) D95E possibly damaging Het
Srgap1 G T 10: 121,628,256 (GRCm39) D882E probably benign Het
Syne4 T C 7: 30,016,258 (GRCm39) probably benign Het
Tasor2 A G 13: 3,620,391 (GRCm39) F2170S probably damaging Het
Tec T C 5: 72,926,119 (GRCm39) Y289C probably benign Het
Tmem102 A T 11: 69,695,628 (GRCm39) Y115N probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trav17 T A 14: 54,044,097 (GRCm39) M1K probably null Het
Trdn T A 10: 33,275,078 (GRCm39) probably null Het
Trp53 A T 11: 69,477,747 (GRCm39) I8F probably benign Het
Ttn T A 2: 76,585,006 (GRCm39) D22064V probably damaging Het
Ube3c G A 5: 29,837,836 (GRCm39) probably null Het
Ulk1 C T 5: 110,936,813 (GRCm39) probably null Het
Upp1 T C 11: 9,085,976 (GRCm39) V271A probably damaging Het
Vmn2r4 T C 3: 64,296,082 (GRCm39) E901G probably damaging Het
Vmn2r96 G A 17: 18,817,770 (GRCm39) G449D probably damaging Het
Vps37b T C 5: 124,144,675 (GRCm39) K165E probably damaging Het
Vwf A T 6: 125,543,268 (GRCm39) I185F possibly damaging Het
Wasf2 A G 4: 132,912,315 (GRCm39) T56A probably benign Het
Zdhhc23 C G 16: 43,793,952 (GRCm39) D241H possibly damaging Het
Zfp276 T C 8: 123,981,623 (GRCm39) S57P probably benign Het
Zxdc A G 6: 90,347,500 (GRCm39) H287R probably damaging Het
Other mutations in Lhcgr
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CACTGCATTGAGGAGCAAGATG -3'
(R):5'- AGACTTTTGCATGGGGCTC -3'

Sequencing Primer
(F):5'- AGACTTGTGACAGAGTGGATTCC -3'
(R):5'- TTGCATGGGGCTCTACCTGC -3'
Posted On 2015-12-29