Incidental Mutation 'R0556:Lhcgr'
ID 45592
Institutional Source Beutler Lab
Gene Symbol Lhcgr
Ensembl Gene ENSMUSG00000024107
Gene Name luteinizing hormone/choriogonadotropin receptor
Synonyms LH-R, Lhr, Gpcr19-rs1
MMRRC Submission 038748-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0556 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 89023909-89099418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89079491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 65 (V65D)
Ref Sequence ENSEMBL: ENSMUSP00000024916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024916]
AlphaFold P30730
Predicted Effect probably damaging
Transcript: ENSMUST00000024916
AA Change: V65D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024916
Gene: ENSMUSG00000024107
AA Change: V65D

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 0.6551 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.7%
Validation Efficiency 98% (64/65)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik T A 17: 15,164,213 (GRCm39) Y113* probably null Het
4930402F06Rik T C 2: 35,280,482 (GRCm39) probably benign Het
Acad11 A G 9: 103,992,501 (GRCm39) E481G probably damaging Het
Aldh1a1 A T 19: 20,611,842 (GRCm39) N389Y probably damaging Het
Bmpr2 C T 1: 59,854,487 (GRCm39) T112M probably damaging Het
Bms1 A G 6: 118,390,140 (GRCm39) Y227H probably damaging Het
Cab39 A G 1: 85,763,212 (GRCm39) probably benign Het
Ccn3 A T 15: 54,612,563 (GRCm39) T191S probably damaging Het
Ccno T C 13: 113,124,820 (GRCm39) probably null Het
Cct6b A G 11: 82,610,270 (GRCm39) probably benign Het
Cd101 A C 3: 100,927,970 (GRCm39) I37S probably damaging Het
Ces1a T C 8: 93,771,740 (GRCm39) H19R probably benign Het
Clec16a A G 16: 10,456,649 (GRCm39) probably null Het
Cntnap1 T C 11: 101,074,822 (GRCm39) F831S probably benign Het
Col24a1 A G 3: 145,020,489 (GRCm39) T287A possibly damaging Het
Colgalt2 C T 1: 152,347,564 (GRCm39) probably benign Het
Cpd A G 11: 76,693,171 (GRCm39) probably benign Het
Cyp3a16 C A 5: 145,392,790 (GRCm39) M145I probably benign Het
Ddx54 T A 5: 120,757,719 (GRCm39) probably benign Het
Dock7 A T 4: 98,833,426 (GRCm39) L1925Q probably damaging Het
Eif4g1 A T 16: 20,494,544 (GRCm39) Y127F probably damaging Het
Erap1 T A 13: 74,808,444 (GRCm39) V52E probably damaging Het
Fbxo6 G T 4: 148,230,632 (GRCm39) T210N probably damaging Het
Fcgbpl1 C T 7: 27,858,803 (GRCm39) H2308Y probably benign Het
Garre1 T C 7: 33,939,222 (GRCm39) T222A probably damaging Het
Gnat3 T G 5: 18,224,596 (GRCm39) V332G probably damaging Het
Ift22 T A 5: 136,940,145 (GRCm39) probably null Het
Igkv4-71 A G 6: 69,220,171 (GRCm39) C109R probably damaging Het
Igsf10 A G 3: 59,236,296 (GRCm39) L1295P probably benign Het
Itga4 T C 2: 79,155,983 (GRCm39) I983T probably benign Het
Mau2 G C 8: 70,495,082 (GRCm39) T85R probably damaging Het
Morc2a T C 11: 3,631,809 (GRCm39) probably null Het
Morc2b A T 17: 33,356,812 (GRCm39) M320K probably benign Het
Ms4a18 C A 19: 10,991,065 (GRCm39) V10F probably damaging Het
Mstn A T 1: 53,103,284 (GRCm39) I207F probably benign Het
Mtor A G 4: 148,553,837 (GRCm39) E812G possibly damaging Het
Myo1h A G 5: 114,457,852 (GRCm39) Y121C probably damaging Het
Or11g27 T C 14: 50,771,381 (GRCm39) S171P probably benign Het
Or4a66 A C 2: 88,531,115 (GRCm39) V186G possibly damaging Het
Or8b53 A T 9: 38,667,041 (GRCm39) D19V possibly damaging Het
Plcd3 G A 11: 102,968,632 (GRCm39) T353M probably damaging Het
Pnpla7 T A 2: 24,942,313 (GRCm39) probably null Het
Ppp1r12b T A 1: 134,705,060 (GRCm39) Y876F probably damaging Het
Prelid2 T A 18: 42,084,245 (GRCm39) probably benign Het
Prickle1 A G 15: 93,398,662 (GRCm39) L722P probably benign Het
Prr12 A G 7: 44,680,093 (GRCm39) L1887P unknown Het
Ptk2b A G 14: 66,409,593 (GRCm39) L481P probably damaging Het
Rgl3 T A 9: 21,887,140 (GRCm39) K531* probably null Het
Sacs A G 14: 61,421,407 (GRCm39) I115V probably damaging Het
Septin3 G T 15: 82,167,966 (GRCm39) probably benign Het
Simc1 T C 13: 54,673,160 (GRCm39) S503P probably benign Het
Stard9 T C 2: 120,529,404 (GRCm39) V1887A probably benign Het
Synj2 T A 17: 6,088,230 (GRCm39) L1427* probably null Het
Taar2 A G 10: 23,816,793 (GRCm39) D111G probably damaging Het
Tlr5 A G 1: 182,801,716 (GRCm39) N340S probably damaging Het
Tmco2 A G 4: 120,966,314 (GRCm39) L14P probably damaging Het
Tnik A T 3: 28,679,367 (GRCm39) D746V possibly damaging Het
Trip11 C A 12: 101,850,777 (GRCm39) E811* probably null Het
Ttll9 T C 2: 152,815,526 (GRCm39) probably null Het
Uchl1 A G 5: 66,839,824 (GRCm39) E122G probably benign Het
Vwa3b C A 1: 37,203,566 (GRCm39) probably benign Het
Zan T C 5: 137,452,482 (GRCm39) N1533S unknown Het
Zfp687 G T 3: 94,917,719 (GRCm39) D684E 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
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
Predicted Primers PCR Primer
(F):5'- ACTTCACACTTTTGGTTCACGCTGTT -3'
(R):5'- GGTGTCCTACCCTATCTCGATGAAATCT -3'

Sequencing Primer
(F):5'- CACAGAGGGACTTTCATGATTG -3'
(R):5'- acacccatactacatacacatacac -3'
Posted On 2013-06-11