Incidental Mutation 'R5743:Cga'
ID 462700
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 043353-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.847) question?
Stock # R5743 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 34893779-34907370 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 34904108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029975] [ENSMUST00000108130] [ENSMUST00000135871]
AlphaFold P01216
Predicted Effect probably null
Transcript: ENSMUST00000029975
SMART Domains Protein: ENSMUSP00000029975
Gene: ENSMUSG00000028298

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
GHA 34 120 3.31e-57 SMART
Predicted Effect probably null
Transcript: ENSMUST00000108130
SMART Domains Protein: ENSMUSP00000103765
Gene: ENSMUSG00000028298

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
GHA 34 120 3.31e-57 SMART
Predicted Effect probably null
Transcript: ENSMUST00000135871
SMART Domains Protein: ENSMUSP00000119152
Gene: ENSMUSG00000028298

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
GHA 34 117 7.56e-52 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149572
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 A G 2: 155,416,536 (GRCm39) probably benign Het
Ankef1 A G 2: 136,391,629 (GRCm39) probably null Het
Arhgap20 T A 9: 51,728,027 (GRCm39) M80K probably benign Het
Arhgap29 T G 3: 121,775,560 (GRCm39) L37R probably damaging Het
Baiap3 G A 17: 25,463,759 (GRCm39) P906S probably benign Het
Caskin2 T A 11: 115,693,115 (GRCm39) N603I possibly damaging Het
Catspere2 G T 1: 177,950,328 (GRCm39) silent Het
Ccdc159 A T 9: 21,840,686 (GRCm39) E84D probably benign Het
Ccl1 T G 11: 82,067,712 (GRCm39) S73R possibly damaging Het
Cdh20 G T 1: 110,036,575 (GRCm39) C585F probably damaging Het
Coq5 A C 5: 115,417,941 (GRCm39) E57A probably benign Het
Cstf1 T A 2: 172,219,753 (GRCm39) L288Q probably damaging Het
Ctsll3 G T 13: 60,948,815 (GRCm39) Q47K probably benign Het
Dchs1 T A 7: 105,420,803 (GRCm39) Q539L probably benign Het
Fbxo46 C A 7: 18,870,420 (GRCm39) D346E probably damaging Het
Frem3 A T 8: 81,342,407 (GRCm39) T1567S probably damaging Het
Glce T A 9: 61,977,822 (GRCm39) T21S probably damaging Het
Gm19402 C T 10: 77,526,516 (GRCm39) D26N probably damaging Het
Gm20830 A G Y: 6,916,664 (GRCm39) Y152H probably damaging Het
Herc3 T C 6: 58,895,784 (GRCm39) Y1011H probably benign Het
Igkv6-29 C A 6: 70,115,584 (GRCm39) G70V possibly damaging Het
Il31ra G T 13: 112,664,021 (GRCm39) T552K possibly damaging Het
Itga2 A G 13: 115,021,042 (GRCm39) V86A probably damaging Het
Kcnk4 A T 19: 6,905,723 (GRCm39) N81K possibly damaging Het
Lrp2 C A 2: 69,297,221 (GRCm39) D3247Y probably damaging Het
Maml3 G T 3: 52,011,553 (GRCm39) F4L unknown Het
Mcpt1 A T 14: 56,256,072 (GRCm39) H37L probably benign Het
Mpdz T C 4: 81,339,425 (GRCm39) M1V probably null Het
Myom2 A T 8: 15,130,914 (GRCm39) K283N possibly damaging Het
Nrxn1 C A 17: 90,950,652 (GRCm39) R509L probably damaging Het
Ntng1 T A 3: 110,042,736 (GRCm39) Y30F probably damaging Het
Or52e7 A G 7: 104,685,363 (GRCm39) probably null Het
Or8c13 C A 9: 38,092,014 (GRCm39) C35F probably benign Het
Or8h8 C A 2: 86,753,549 (GRCm39) G109V probably benign Het
Orc6 A T 8: 86,029,585 (GRCm39) Q43L probably benign Het
Otogl G A 10: 107,692,862 (GRCm39) S874L possibly damaging Het
Pcdh9 T C 14: 94,124,160 (GRCm39) D670G probably damaging Het
Pcdhga9 A T 18: 37,871,859 (GRCm39) I563F probably damaging Het
Plxna1 A T 6: 89,333,511 (GRCm39) S373T probably damaging Het
Prop1 T C 11: 50,841,836 (GRCm39) D190G probably damaging Het
Qrich1 T A 9: 108,411,314 (GRCm39) Y280N probably damaging Het
Rasl10a T A 11: 5,009,519 (GRCm39) D102E probably benign Het
Rgs1 T C 1: 144,121,110 (GRCm39) Y187C probably damaging Het
Sema5b T A 16: 35,478,846 (GRCm39) W557R probably damaging Het
Sh2b3 A T 5: 121,966,520 (GRCm39) L198H probably damaging Het
Slc27a3 G T 3: 90,294,379 (GRCm39) T429K probably benign Het
Slc35f1 T G 10: 52,965,546 (GRCm39) D320E probably benign Het
Smug1 C A 15: 103,066,043 (GRCm39) probably null Het
Spata31f3 G A 4: 42,873,087 (GRCm39) T68I probably damaging Het
Ssrp1 T A 2: 84,871,512 (GRCm39) Y311* probably null Het
Svep1 T C 4: 58,096,223 (GRCm39) T1466A possibly damaging Het
Tmem130 A G 5: 144,687,749 (GRCm39) S196P probably damaging Het
Trim30d A T 7: 104,121,535 (GRCm39) C176* probably null Het
Ush2a A G 1: 188,169,159 (GRCm39) H1100R probably benign Het
Vezt A T 10: 93,832,957 (GRCm39) F151L probably benign Het
Vps35l A G 7: 118,396,234 (GRCm39) T538A possibly damaging Het
Zc3h3 G T 15: 75,651,380 (GRCm39) C638* probably null Het
Zfp128 C T 7: 12,618,654 (GRCm39) R51C probably damaging Het
Zfp141 T G 7: 42,125,855 (GRCm39) I206L possibly damaging Het
Zfp369 G T 13: 65,443,494 (GRCm39) K324N probably benign 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
R6952:Cga UTSW 4 34,905,171 (GRCm39) missense possibly damaging 0.80
R7388:Cga UTSW 4 34,907,076 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAGCTGGCTTGGGTTATGAC -3'
(R):5'- GTGGACTTCAGATGAACATGCTTAG -3'

Sequencing Primer
(F):5'- TGACTGGTAAGCTAAGATTACACTG -3'
(R):5'- CGAACGTGGGATATAGCATTTTCAG -3'
Posted On 2017-03-01