Incidental Mutation 'R3882:Gpha2'
ID 312835
Institutional Source Beutler Lab
Gene Symbol Gpha2
Ensembl Gene ENSMUSG00000024784
Gene Name glycoprotein hormone alpha 2
Synonyms GPA2, zsig51
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R3882 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6276431-6277798 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 6276919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025695] [ENSMUST00000025698] [ENSMUST00000025699] [ENSMUST00000113526] [ENSMUST00000113528]
AlphaFold Q925Q5
Predicted Effect probably benign
Transcript: ENSMUST00000025695
SMART Domains Protein: ENSMUSP00000025695
Gene: ENSMUSG00000024777

DomainStartEndE-ValueType
low complexity region 6 25 N/A INTRINSIC
low complexity region 32 48 N/A INTRINSIC
Pfam:B56 62 467 5.2e-187 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000025698
SMART Domains Protein: ENSMUSP00000025698
Gene: ENSMUSG00000024784

DomainStartEndE-ValueType
low complexity region 8 15 N/A INTRINSIC
Pfam:DAN 17 126 5.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025699
SMART Domains Protein: ENSMUSP00000025699
Gene: ENSMUSG00000024786

DomainStartEndE-ValueType
Pfam:DUF4544 1 51 2.1e-36 PFAM
Pfam:DUF4544 49 110 2.1e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113526
SMART Domains Protein: ENSMUSP00000109154
Gene: ENSMUSG00000024784

DomainStartEndE-ValueType
low complexity region 8 15 N/A INTRINSIC
Pfam:DAN 16 123 1.9e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113528
SMART Domains Protein: ENSMUSP00000109156
Gene: ENSMUSG00000024786

DomainStartEndE-ValueType
Pfam:DUF4544 1 240 1.5e-131 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153155
Meta Mutation Damage Score 0.9496 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (33/34)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GPHA2 is a cystine knot-forming polypeptide and a subunit of the dimeric glycoprotein hormone family (Hsu et al., 2002 [PubMed 12089349]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 G T 9: 106,312,708 (GRCm39) T181K possibly damaging Het
Adcy4 A G 14: 56,012,003 (GRCm39) F581L probably benign Het
Amhr2 G A 15: 102,354,333 (GRCm39) G48D probably damaging Het
Angptl4 G A 17: 33,996,008 (GRCm39) P323S possibly damaging Het
Arhgef17 A G 7: 100,525,661 (GRCm39) F1979S possibly damaging Het
Bltp2 T A 11: 78,153,526 (GRCm39) W24R probably damaging Het
C2 T C 17: 35,092,465 (GRCm39) T191A probably benign Het
Cmya5 T A 13: 93,227,727 (GRCm39) T2454S probably benign Het
Dstn A G 2: 143,784,107 (GRCm39) E150G probably benign Het
Dync1h1 G T 12: 110,595,492 (GRCm39) V1444F probably benign Het
Eif3f T C 7: 108,540,162 (GRCm39) V319A possibly damaging Het
Hps5 A G 7: 46,421,420 (GRCm39) V648A possibly damaging Het
Jup A G 11: 100,269,207 (GRCm39) V402A probably benign Het
Kif18a A G 2: 109,137,319 (GRCm39) N517S probably benign Het
Kif20b T A 19: 34,927,480 (GRCm39) I874N probably damaging Het
Lepr T A 4: 101,672,462 (GRCm39) V1162E probably damaging Het
Man2a2 A T 7: 80,012,063 (GRCm39) V698D possibly damaging Het
Miip A C 4: 147,945,509 (GRCm39) S376A possibly damaging Het
Nsun7 G A 5: 66,435,983 (GRCm39) R285Q probably damaging Het
Nup210l T C 3: 90,031,517 (GRCm39) V281A probably benign Het
Paxip1 C T 5: 27,953,837 (GRCm39) R953Q probably damaging Het
Pcdha8 C A 18: 37,126,099 (GRCm39) L194I probably damaging Het
Pcdha8 A G 18: 37,126,624 (GRCm39) I369V probably benign Het
Pcdhga10 C A 18: 37,880,494 (GRCm39) A85E possibly damaging Het
Ppfibp1 A G 6: 146,899,719 (GRCm39) R137G possibly damaging Het
Rcor1 C T 12: 111,070,187 (GRCm39) A230V probably damaging Het
Scn3a T C 2: 65,312,623 (GRCm39) M1191V probably benign Het
Skor2 A G 18: 76,950,384 (GRCm39) D904G probably damaging Het
Suco A T 1: 161,662,313 (GRCm39) V706E probably benign Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Vmn1r83 A T 7: 12,055,329 (GRCm39) C243S probably damaging Het
Wdr17 A T 8: 55,092,536 (GRCm39) C1083S possibly damaging Het
Zfp952 G T 17: 33,220,949 (GRCm39) E18* probably null Het
Zfr G A 15: 12,162,319 (GRCm39) R823H probably benign Het
Zscan25 G T 5: 145,227,862 (GRCm39) G509C probably damaging Het
Other mutations in Gpha2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2110:Gpha2 UTSW 19 6,277,532 (GRCm39) missense probably damaging 0.99
R2149:Gpha2 UTSW 19 6,277,012 (GRCm39) missense probably damaging 1.00
R5634:Gpha2 UTSW 19 6,276,890 (GRCm39) missense probably benign
R6224:Gpha2 UTSW 19 6,277,142 (GRCm39) missense possibly damaging 0.92
Z1177:Gpha2 UTSW 19 6,277,053 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAAGGAGACCCAGAAGCCTG -3'
(R):5'- GATGTTGTGCCGATAGCCACTG -3'

Sequencing Primer
(F):5'- CCTGGCTTGCTGGTGGAGAG -3'
(R):5'- ACCAGCACAGAGTACCGGG -3'
Posted On 2015-04-30