Incidental Mutation 'R7398:Lhcgr'
ID 573996
Institutional Source Beutler Lab
Gene Symbol Lhcgr
Ensembl Gene ENSMUSG00000024107
Gene Name luteinizing hormone/choriogonadotropin receptor
Synonyms LH-R, Lhr, Gpcr19-rs1
MMRRC Submission 045480-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7398 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 89023909-89099418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 89079474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Glutamic Acid at position 71 (Q71E)
Ref Sequence ENSEMBL: ENSMUSP00000024916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024916]
AlphaFold P30730
Predicted Effect probably benign
Transcript: ENSMUST00000024916
AA Change: Q71E

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000024916
Gene: ENSMUSG00000024107
AA Change: Q71E

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 T A 2: 31,680,811 (GRCm39) S368T probably damaging Het
Acmsd A G 1: 127,657,172 (GRCm39) probably benign Het
Arid3b A T 9: 57,703,495 (GRCm39) S445T probably benign Het
Brinp1 A G 4: 68,759,591 (GRCm39) V91A probably benign Het
Ccne1 A G 7: 37,805,702 (GRCm39) probably null Het
Col3a1 A T 1: 45,366,973 (GRCm39) I249F unknown Het
Crybg3 T C 16: 59,377,688 (GRCm39) I1189V probably benign Het
Cyp2d34 A T 15: 82,500,964 (GRCm39) D389E probably benign Het
D130043K22Rik A C 13: 25,077,360 (GRCm39) I998L probably damaging Het
Dgkq A G 5: 108,803,056 (GRCm39) I298T possibly damaging Het
Dnah17 T C 11: 117,971,550 (GRCm39) E2161G probably damaging Het
Dnajc25 T C 4: 59,017,824 (GRCm39) probably null Het
Dpp9 G A 17: 56,496,405 (GRCm39) R768* probably null Het
Dusp6 T A 10: 99,100,740 (GRCm39) N245K probably damaging Het
Eea1 C A 10: 95,831,493 (GRCm39) H195N probably benign Het
Efhc1 A G 1: 21,059,744 (GRCm39) E598G probably benign Het
Epb41l1 T C 2: 156,376,682 (GRCm39) V809A probably damaging Het
Gas8 T A 8: 124,245,690 (GRCm39) M1K probably null Het
Gcm1 G A 9: 77,971,961 (GRCm39) V301I probably benign Het
Gm11554 T A 11: 99,695,085 (GRCm39) S43C unknown Het
Gm7298 A G 6: 121,758,912 (GRCm39) I1177V probably benign Het
Gm8011 A G 14: 42,285,918 (GRCm39) T27A Het
Hmcn1 A G 1: 150,522,421 (GRCm39) I3493T probably benign Het
Insrr T G 3: 87,716,039 (GRCm39) I578S probably damaging Het
Kif13b A G 14: 64,994,972 (GRCm39) D908G probably null Het
Lrrc34 T C 3: 30,697,491 (GRCm39) D80G probably damaging Het
Lrrc7 C A 3: 157,997,595 (GRCm39) E156* probably null Het
Lrrc9 A G 12: 72,547,590 (GRCm39) D1255G probably damaging Het
Mcidas A G 13: 113,133,416 (GRCm39) N116D probably benign Het
Mmp7 A G 9: 7,697,594 (GRCm39) N210D probably damaging Het
Morc3 A G 16: 93,671,748 (GRCm39) D926G probably damaging Het
Mrgpra9 A G 7: 46,885,385 (GRCm39) I94T possibly damaging Het
Muc16 C A 9: 18,549,038 (GRCm39) V5752F possibly damaging Het
Myo16 A T 8: 10,612,183 (GRCm39) D1276V unknown Het
Nlrc4 T G 17: 74,753,537 (GRCm39) E282A probably damaging Het
Nos2 T A 11: 78,827,297 (GRCm39) Y227* probably null Het
Obox5 A C 7: 15,492,713 (GRCm39) M223L probably benign Het
Or10ak13 C A 4: 118,638,896 (GRCm39) L295F possibly damaging Het
Pygm G A 19: 6,435,966 (GRCm39) R139H probably damaging Het
Ranbp2 C A 10: 58,303,099 (GRCm39) P789T probably damaging Het
Riok2 T G 17: 17,607,501 (GRCm39) S350A probably benign Het
Rnf214 C T 9: 45,778,845 (GRCm39) V445I possibly damaging Het
Skida1 C T 2: 18,051,083 (GRCm39) V603I unknown Het
Skint6 T A 4: 112,755,335 (GRCm39) R747S probably benign Het
Slc24a5 G A 2: 124,927,694 (GRCm39) W331* probably null Het
Slc5a10 A T 11: 61,564,405 (GRCm39) C525S probably benign Het
Styxl2 A G 1: 165,928,044 (GRCm39) S523P probably damaging Het
Sult2b1 T C 7: 45,380,718 (GRCm39) Y288C probably damaging Het
Tagln3 G T 16: 45,543,440 (GRCm39) N67K probably damaging Het
Trav21-dv12 A T 14: 54,114,162 (GRCm39) H94L probably benign Het
Tshz2 A G 2: 169,726,094 (GRCm39) E230G probably damaging Het
Usb1 T A 8: 96,071,931 (GRCm39) H210Q probably damaging Het
Vill C T 9: 118,899,716 (GRCm39) P767L probably benign Het
Vmn2r94 A T 17: 18,477,603 (GRCm39) N269K probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null 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
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
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'- ATCATACCACTTCTTCAAAGGCTAC -3'
(R):5'- CCCTATCTCGATGAAATCTCTCAAC -3'

Sequencing Primer
(F):5'- TGGGTTTCCTAAACACAGT -3'
(R):5'- CGATGAAATCTCTCAACAAGATAGG -3'
Posted On 2019-09-13