Incidental Mutation 'R7388:Cga'
ID 573241
Institutional Source Beutler Lab
Gene Symbol Cga
Ensembl Gene ENSMUSG00000028298
Gene Name glycoprotein hormones, alpha subunit
Synonyms alpha-GSU, alphaSU, alphaGSU, aGSU, Tsha, GPHalpha
MMRRC Submission 045470-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.847) question?
Stock # R7388 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 34893779-34907370 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34907076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 99 (M99K)
Ref Sequence ENSEMBL: ENSMUSP00000029975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029975] [ENSMUST00000108130] [ENSMUST00000135871]
AlphaFold P01216
Predicted Effect probably benign
Transcript: ENSMUST00000029975
AA Change: M99K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029975
Gene: ENSMUSG00000028298
AA Change: M99K

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
GHA 34 120 3.31e-57 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108130
AA Change: M99K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103765
Gene: ENSMUSG00000028298
AA Change: M99K

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
GHA 34 120 3.31e-57 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135871
AA Change: M99K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119152
Gene: ENSMUSG00000028298
AA Change: M99K

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
GHA 34 117 7.56e-52 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. The protein encoded by this gene is the alpha subunit and belongs to the glycoprotein hormones alpha chain family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous null mutants exhibit male and female sterility with hypogonadism, dwarfism, hypothyroidism, and both hypertrophy and hyperplasia of pituitary thyrotropes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 T C 18: 67,556,023 (GRCm39) E436G probably damaging Het
Agbl5 T A 5: 31,060,583 (GRCm39) L759* probably null Het
Ankrd13b T C 11: 77,363,583 (GRCm39) D460G probably benign Het
Apol10a A G 15: 77,373,225 (GRCm39) D287G possibly damaging Het
Arhgap44 A T 11: 64,915,094 (GRCm39) Y391* probably null Het
Asz1 G T 6: 18,074,900 (GRCm39) S271R probably benign Het
AW554918 A G 18: 25,473,170 (GRCm39) N325D probably benign Het
Brinp2 A T 1: 158,082,579 (GRCm39) L247Q probably damaging Het
Casz1 A G 4: 149,036,850 (GRCm39) D1704G unknown Het
Cdk5rap1 G A 2: 154,202,595 (GRCm39) R212W probably damaging Het
Cdkl2 T A 5: 92,167,318 (GRCm39) T444S probably benign Het
Cers2 T G 3: 95,228,656 (GRCm39) F160V probably benign Het
Cfap276 T C 3: 108,450,815 (GRCm39) F86L possibly damaging Het
Cspp1 C T 1: 10,135,572 (GRCm39) R138* probably null Het
Dao T G 5: 114,153,273 (GRCm39) *133E probably null Het
Ddx1 A T 12: 13,275,456 (GRCm39) C544S probably null Het
Dgkq A T 5: 108,806,112 (GRCm39) V98E probably damaging Het
Dnah6 T A 6: 73,169,300 (GRCm39) T434S possibly damaging Het
Dntt A G 19: 41,027,418 (GRCm39) N162D probably benign Het
Dpysl5 T C 5: 30,902,805 (GRCm39) V79A probably benign Het
Efcab3 T C 11: 104,611,871 (GRCm39) L571P probably damaging Het
Ep300 T C 15: 81,532,567 (GRCm39) C1602R unknown Het
Flrt3 C T 2: 140,503,672 (GRCm39) probably null Het
Gk2 A G 5: 97,604,757 (GRCm39) V27A probably damaging Het
Gnpat T G 8: 125,614,553 (GRCm39) M663R probably benign Het
Hc A T 2: 34,874,859 (GRCm39) probably null Het
Il12rb1 A G 8: 71,263,271 (GRCm39) Y67C probably damaging Het
Ints15 G A 5: 143,297,600 (GRCm39) A149V probably benign Het
Kmt2b C T 7: 30,281,385 (GRCm39) D1229N probably damaging Het
Lamc1 T C 1: 153,124,822 (GRCm39) T650A probably damaging Het
Lrp1 G A 10: 127,419,766 (GRCm39) R948* probably null Het
Map3k21 T C 8: 126,654,336 (GRCm39) I385T probably damaging Het
Mmrn1 T A 6: 60,953,236 (GRCm39) S506T probably benign Het
Nlrp1a A G 11: 71,014,023 (GRCm39) F409S probably damaging Het
Nlrp3 T A 11: 59,455,892 (GRCm39) I896N probably benign Het
Noxred1 C A 12: 87,273,799 (GRCm39) V81L probably damaging Het
Nrcam A T 12: 44,645,272 (GRCm39) I1225F probably damaging Het
Or2z2 C T 11: 58,346,481 (GRCm39) C98Y probably damaging Het
Otos T A 1: 92,572,241 (GRCm39) probably null Het
Pcdh20 A G 14: 88,706,103 (GRCm39) I399T probably benign Het
Pkhd1 C T 1: 20,309,528 (GRCm39) V2807I not run Het
Prrx2 A G 2: 30,770,902 (GRCm39) E235G probably damaging Het
Rab13 T C 3: 90,128,327 (GRCm39) I41T probably damaging Het
Rai1 A C 11: 60,080,201 (GRCm39) T1422P possibly damaging Het
Rcn1 C T 2: 105,222,336 (GRCm39) V217M probably damaging Het
Scn2a T A 2: 65,518,998 (GRCm39) V408E probably damaging Het
Sec16a C T 2: 26,318,376 (GRCm39) A121T Het
Slc35d1 A G 4: 103,046,982 (GRCm39) probably null Het
Slc39a6 A T 18: 24,717,106 (GRCm39) V642E probably damaging Het
Slc6a19 G A 13: 73,841,203 (GRCm39) A69V probably benign Het
Spink6 A T 18: 44,215,386 (GRCm39) T79S probably damaging Het
Spire1 T C 18: 67,652,950 (GRCm39) D170G probably damaging Het
Sugp1 T C 8: 70,505,269 (GRCm39) S79P probably damaging Het
Syne3 A G 12: 104,934,167 (GRCm39) Y201H probably damaging Het
Tbc1d10a T C 11: 4,155,858 (GRCm39) probably null Het
Tmem14a C T 1: 21,299,735 (GRCm39) Q122* probably null Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Trmt61a A G 12: 111,645,321 (GRCm39) I86V possibly damaging Het
Tubgcp4 G A 2: 121,020,447 (GRCm39) probably null Het
Vmn1r79 T A 7: 11,910,668 (GRCm39) Y183* probably null Het
Vmn2r11 A T 5: 109,202,742 (GRCm39) W112R probably benign Het
Vpreb1a T C 16: 16,686,516 (GRCm39) K125E probably benign Het
Wdr6 A T 9: 108,451,971 (GRCm39) F637L probably damaging Het
Other mutations in Cga
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4283:Cga UTSW 4 34,905,264 (GRCm39) critical splice donor site probably null
R5382:Cga UTSW 4 34,904,048 (GRCm39) missense probably benign
R5743:Cga UTSW 4 34,904,108 (GRCm39) critical splice donor site probably null
R6952:Cga UTSW 4 34,905,171 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- GAATTAAAGGCGCGAGTCAC -3'
(R):5'- TACTGAAGTATAAGGGATGTAACCG -3'

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