Incidental Mutation 'R5382:Cga'
ID 424776
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 042957-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.847) question?
Stock # R5382 (G1)
Quality Score 211
Status Validated
Chromosome 4
Chromosomal Location 34893779-34907370 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 34904048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 14 (M14I)
Ref Sequence ENSEMBL: ENSMUSP00000119152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029975] [ENSMUST00000108130] [ENSMUST00000135871]
AlphaFold P01216
Predicted Effect probably benign
Transcript: ENSMUST00000029975
AA Change: M14I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029975
Gene: ENSMUSG00000028298
AA Change: M14I

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
GHA 34 120 3.31e-57 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108130
AA Change: M14I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103765
Gene: ENSMUSG00000028298
AA Change: M14I

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
GHA 34 120 3.31e-57 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135871
AA Change: M14I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119152
Gene: ENSMUSG00000028298
AA Change: M14I

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
GHA 34 117 7.56e-52 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149572
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (59/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G A 7: 28,314,844 (GRCm39) P250S possibly damaging Het
Actn2 T A 13: 12,323,837 (GRCm39) M133L probably benign Het
Arhgap32 A T 9: 32,063,306 (GRCm39) K105M probably damaging Het
BC034090 A G 1: 155,101,349 (GRCm39) V305A probably benign Het
Brd1 G A 15: 88,613,767 (GRCm39) T376M probably damaging Het
Cbl C T 9: 44,070,318 (GRCm39) A505T probably benign Het
Ciao3 A G 17: 25,995,894 (GRCm39) probably benign Het
Cluh T C 11: 74,555,935 (GRCm39) probably benign Het
Col14a1 A T 15: 55,225,832 (GRCm39) D165V unknown Het
Cp T C 3: 20,033,089 (GRCm39) W639R probably damaging Het
Cyp7b1 T A 3: 18,151,385 (GRCm39) D276V possibly damaging Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Ecpas A T 4: 58,850,934 (GRCm39) M413K probably benign Het
Erc1 T A 6: 119,738,233 (GRCm39) M509L probably benign Het
Evi5l A G 8: 4,228,653 (GRCm39) probably benign Het
Exoc6 T C 19: 37,587,127 (GRCm39) probably null Het
Gm38706 C T 6: 130,460,744 (GRCm39) noncoding transcript Het
Gpr183 T C 14: 122,192,333 (GRCm39) T63A possibly damaging Het
Gpr63 T A 4: 25,007,952 (GRCm39) D225E probably benign Het
Grb14 T A 2: 64,745,078 (GRCm39) K93N probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kif28 C T 1: 179,527,847 (GRCm39) G768D probably damaging Het
Krt79 A T 15: 101,839,875 (GRCm39) D373E probably benign Het
Mro G A 18: 74,009,893 (GRCm39) S187N probably benign Het
Ms4a14 G T 19: 11,280,421 (GRCm39) D712E possibly damaging Het
Ndufaf1 T C 2: 119,490,893 (GRCm39) T56A possibly damaging Het
Nell2 A T 15: 95,127,091 (GRCm39) D761E probably damaging Het
Numb A G 12: 83,854,979 (GRCm39) F116L probably damaging Het
Or3a1 T A 11: 74,225,806 (GRCm39) M84L probably benign Het
Or4c114 A G 2: 88,905,079 (GRCm39) Y119H probably damaging Het
Or5an11 A T 19: 12,245,773 (GRCm39) M60L possibly damaging Het
Or6c66 T A 10: 129,461,876 (GRCm39) D18V probably damaging Het
Or8k27 A G 2: 86,275,660 (GRCm39) L222P probably damaging Het
Or9g20 T C 2: 85,630,492 (GRCm39) N41D probably damaging Het
Otog A C 7: 45,898,428 (GRCm39) N182T probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Padi6 A T 4: 140,458,521 (GRCm39) V457E probably damaging Het
Pex16 G A 2: 92,207,875 (GRCm39) R109H possibly damaging Het
Phactr1 T C 13: 43,288,695 (GRCm39) probably benign Het
Phf20 G A 2: 156,109,417 (GRCm39) E255K probably damaging Het
Pim1 A G 17: 29,710,457 (GRCm39) probably benign Het
Prr23a2 T A 9: 98,739,229 (GRCm39) Y196N probably damaging Het
Prune2 A T 19: 16,981,023 (GRCm39) N60I probably damaging Het
Ptprb T A 10: 116,189,776 (GRCm39) Y1812N probably damaging Het
Rab11fip4 A G 11: 79,581,541 (GRCm39) Y512C possibly damaging Het
Resf1 G T 6: 149,227,958 (GRCm39) E335* probably null Het
Rft1 T C 14: 30,388,739 (GRCm39) V221A probably benign Het
Tacr2 T C 10: 62,097,276 (GRCm39) M252T probably damaging Het
Tgfbrap1 A G 1: 43,115,025 (GRCm39) I25T probably benign Het
Th A G 7: 142,449,177 (GRCm39) F191S probably damaging Het
Trim3 C A 7: 105,267,554 (GRCm39) R275L probably benign Het
Trpm3 A G 19: 22,862,705 (GRCm39) probably null Het
Wars1 A T 12: 108,848,706 (GRCm39) D80E probably benign Het
Wdr90 T A 17: 26,064,572 (GRCm39) Y1806F probably damaging Het
Zfp644 A T 5: 106,782,735 (GRCm39) I1182N possibly damaging Het
Other mutations in Cga
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4283:Cga UTSW 4 34,905,264 (GRCm39) critical splice donor site probably null
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
R7388:Cga UTSW 4 34,907,076 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GAGCAATAATGTTAAACTTACTGGTTG -3'
(R):5'- AAGATGTGTATCCAGAAGTGACTATT -3'

Sequencing Primer
(F):5'- ATACAGCTCAGTCGTAGAGCAGTAC -3'
(R):5'- GACTATTTATCACATGTGAAAGACGG -3'
Posted On 2016-08-04