Incidental Mutation 'IGL00661:Lhcgr'
ID 11754
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 # IGL00661
Quality Score
Status
Chromosome 17
Chromosomal Location 89023909-89099418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 89057546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 315 (A315V)
Ref Sequence ENSEMBL: ENSMUSP00000024916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024916]
AlphaFold P30730
Predicted Effect probably benign
Transcript: ENSMUST00000024916
AA Change: A315V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024916
Gene: ENSMUSG00000024107
AA Change: A315V

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
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A G 4: 144,430,263 (GRCm39) V242A possibly damaging Het
Antxr2 T C 5: 98,152,155 (GRCm39) D152G probably benign Het
Blmh A T 11: 76,856,758 (GRCm39) K118* probably null Het
Bnip3 G A 7: 138,499,801 (GRCm39) P62L probably damaging Het
Catsperb A T 12: 101,554,357 (GRCm39) T684S probably damaging Het
Chd3 C A 11: 69,248,209 (GRCm39) K894N possibly damaging Het
Chkb T A 15: 89,311,794 (GRCm39) R133S probably benign Het
Dennd5a T C 7: 109,507,579 (GRCm39) N803S probably benign Het
Dync2li1 A T 17: 84,956,668 (GRCm39) D276V possibly damaging Het
Erap1 T C 13: 74,822,908 (GRCm39) probably benign Het
Hgsnat C T 8: 26,462,965 (GRCm39) V70M probably benign Het
Leprot T C 4: 101,509,673 (GRCm39) probably null Het
Lrrn4 C T 2: 132,712,588 (GRCm39) V412I probably benign Het
Macrod2 G A 2: 140,261,824 (GRCm39) probably null Het
Mmaa G A 8: 80,008,199 (GRCm39) R13C probably damaging Het
Plpp4 T A 7: 128,918,023 (GRCm39) I66N probably damaging Het
Prl4a1 T C 13: 28,205,359 (GRCm39) V108A probably benign Het
Prss1 G T 6: 41,439,553 (GRCm39) K95N possibly damaging Het
Rasa2 C T 9: 96,459,606 (GRCm39) probably benign Het
Relb A G 7: 19,350,336 (GRCm39) V208A possibly damaging Het
Sema3d T C 5: 12,555,806 (GRCm39) S178P probably damaging Het
Slc18a1 A T 8: 69,526,383 (GRCm39) W102R probably benign Het
Slc39a8 A C 3: 135,563,873 (GRCm39) K239N probably benign Het
Stap1 A G 5: 86,229,132 (GRCm39) H100R probably benign Het
Suz12 T A 11: 79,889,918 (GRCm39) V143E probably damaging Het
Tmf1 A G 6: 97,153,455 (GRCm39) V206A probably benign Het
Trim16 T A 11: 62,728,058 (GRCm39) probably benign Het
Ube2b C T 11: 51,891,119 (GRCm39) probably null Het
Vmn1r223 T C 13: 23,434,254 (GRCm39) S283P probably damaging Het
Wrn T A 8: 33,809,173 (GRCm39) probably benign Het
Other mutations in Lhcgr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Lhcgr APN 17 89,049,874 (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
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 2012-12-06