Incidental Mutation 'R8370:Lhb'
ID 646342
Institutional Source Beutler Lab
Gene Symbol Lhb
Ensembl Gene ENSMUSG00000100916
Gene Name luteinizing hormone beta
Synonyms LH, leutropin, Gm29035
MMRRC Submission 067809-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # R8370 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 45070370-45071278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45071066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 97 (D97G)
Ref Sequence ENSEMBL: ENSMUSP00000072276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058879] [ENSMUST00000072453] [ENSMUST00000107771] [ENSMUST00000210271] [ENSMUST00000210439] [ENSMUST00000211214] [ENSMUST00000211666]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000058879
SMART Domains Protein: ENSMUSP00000057916
Gene: ENSMUSG00000074121

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 50 74 N/A INTRINSIC
NGF 88 201 8.06e-83 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000072453
AA Change: D97G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072276
Gene: ENSMUSG00000100916
AA Change: D97G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
GHB 25 131 2.2e-64 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107771
SMART Domains Protein: ENSMUSP00000103400
Gene: ENSMUSG00000003868

DomainStartEndE-ValueType
AAA 69 361 5.17e-10 SMART
Blast:AAA 373 417 3e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000209426
Predicted Effect probably benign
Transcript: ENSMUST00000210271
Predicted Effect probably benign
Transcript: ENSMUST00000210439
Predicted Effect probably benign
Transcript: ENSMUST00000211214
Predicted Effect probably benign
Transcript: ENSMUST00000211440
Predicted Effect probably benign
Transcript: ENSMUST00000211666
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 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 is a member of the glycoprotein hormone beta chain family and encodes the beta subunit of luteinizing hormone (LH). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. LH is expressed in the pituitary gland and promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids. The genes for the beta chains of chorionic gonadotropin and for luteinizing hormone are contiguous on chromosome 19q13.3. Mutations in this gene are associated with hypogonadism which is characterized by infertility and pseudohermaphroditism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display male and female infertility, hypogonadism, azoospermia, absent corpora lutea, degenerating oocytes, and reduced serum levels of estradiol, progesterone, and testosterone. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 A G 16: 85,696,881 (GRCm39) V92A possibly damaging Het
Armc2 T A 10: 41,799,833 (GRCm39) N675I possibly damaging Het
Cav1 A G 6: 17,339,293 (GRCm39) H126R possibly damaging Het
Ccdc202 T C 14: 96,119,930 (GRCm39) L229P probably damaging Het
Clca4b A G 3: 144,631,824 (GRCm39) F227S probably damaging Het
Clec4a4 G A 6: 122,968,758 (GRCm39) G41D probably damaging Het
Commd1 A T 11: 22,932,104 (GRCm39) L51Q probably damaging Het
Dhx57 A T 17: 80,553,192 (GRCm39) V1245D probably damaging Het
Ephb2 A G 4: 136,383,302 (GRCm39) I925T possibly damaging Het
Eprs1 T A 1: 185,131,454 (GRCm39) I700K probably damaging Het
Fry C A 5: 150,319,284 (GRCm39) T983K probably damaging Het
Gm14325 T C 2: 177,474,385 (GRCm39) I232M probably benign Het
Golgb1 A G 16: 36,732,679 (GRCm39) H683R probably benign Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Kif9 C T 9: 110,317,681 (GRCm39) R113C probably damaging Het
Klhl33 C T 14: 51,129,689 (GRCm39) R312Q probably damaging Het
Lama5 T C 2: 179,843,280 (GRCm39) E489G possibly damaging Het
Lrp1b T C 2: 40,888,117 (GRCm39) D2381G Het
Miga2 AAGAG AAG 2: 30,265,755 (GRCm39) probably null Het
Mmp17 A G 5: 129,682,642 (GRCm39) D427G probably damaging Het
Mrps18b T C 17: 36,223,254 (GRCm39) I131V probably benign Het
Nav1 T A 1: 135,398,882 (GRCm39) K567* probably null Het
Ncam1 T A 9: 49,468,431 (GRCm39) R343* probably null Het
Nfrkb T A 9: 31,316,875 (GRCm39) N591K probably damaging Het
Numb A T 12: 83,854,974 (GRCm39) C117* probably null Het
Or5b123 T A 19: 13,596,661 (GRCm39) I2N probably damaging Het
Or6ae1 A T 7: 139,742,681 (GRCm39) Y61N probably damaging Het
Pfpl A T 19: 12,407,275 (GRCm39) N509Y probably damaging Het
Prss58 C A 6: 40,872,358 (GRCm39) G222C probably damaging Het
Ptx4 C A 17: 25,342,314 (GRCm39) P263Q possibly damaging Het
Ribc2 T G 15: 85,027,489 (GRCm39) H323Q probably benign Het
Rsf1 CGGCGGC CGGCGGCGGGGGCGGC 7: 97,229,136 (GRCm39) probably benign Het
Smchd1 G A 17: 71,701,908 (GRCm39) T1028M probably benign Het
Spata31d1e T C 13: 59,891,766 (GRCm39) D18G probably benign Het
Srebf1 T C 11: 60,093,022 (GRCm39) I806V probably benign Het
Trim14 A T 4: 46,523,711 (GRCm39) L109Q probably damaging Het
Wdfy4 A T 14: 32,815,208 (GRCm39) H1602Q Het
Zbtb48 A G 4: 152,105,744 (GRCm39) probably null Het
Zranb3 T C 1: 127,895,670 (GRCm39) E726G probably benign Het
Other mutations in Lhb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02353:Lhb APN 7 45,070,718 (GRCm39) missense possibly damaging 0.64
IGL02360:Lhb APN 7 45,070,718 (GRCm39) missense possibly damaging 0.64
R1872:Lhb UTSW 7 45,070,757 (GRCm39) missense probably damaging 0.96
R4327:Lhb UTSW 7 45,070,383 (GRCm39) missense possibly damaging 0.93
R7564:Lhb UTSW 7 45,071,101 (GRCm39) missense probably damaging 0.99
Y5377:Lhb UTSW 7 45,070,723 (GRCm39) missense probably benign 0.09
Z1088:Lhb UTSW 7 45,071,154 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- GGCAGGGATCATAGCTACTGTG -3'
(R):5'- TGGAAAGCCTTTATTGGGAAGG -3'

Sequencing Primer
(F):5'- ATCATAGCTACTGTGGGGGTC -3'
(R):5'- CCTTTATTGGGAAGGAGGGAG -3'
Posted On 2020-09-02