Incidental Mutation 'R2277:Gh'
ID 242860
Institutional Source Beutler Lab
Gene Symbol Gh
Ensembl Gene ENSMUSG00000020713
Gene Name growth hormone
Synonyms
MMRRC Submission 040276-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # R2277 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 106191097-106192691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106191613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 143 (E143G)
Ref Sequence ENSEMBL: ENSMUSP00000099360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103071]
AlphaFold P06880
Predicted Effect probably damaging
Transcript: ENSMUST00000103071
AA Change: E143G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099360
Gene: ENSMUSG00000020713
AA Change: E143G

DomainStartEndE-ValueType
Pfam:Hormone_1 10 214 2.1e-47 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. This particular family member is expressed in placental villi, although it was originally thought to be a pseudogene. In fact, alternative splicing suggests that the majority of the transcripts would be unable to express a secreted protein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit dwarfism, an increased percentage of body white and brown fat, elevated plasma ghrelin levels, pituitary hypoplasia, small liver, delayed sexual maturation, and reduced fertility. Heterozygotes display a less pronounced phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13d T C 19: 4,331,012 (GRCm39) H165R probably benign Het
Arhgap21 T C 2: 20,868,037 (GRCm39) I829V possibly damaging Het
Atxn1 T C 13: 45,710,544 (GRCm39) N796S probably damaging Het
Bdp1 C A 13: 100,197,838 (GRCm39) S849I probably benign Het
Bdp1 T A 13: 100,197,847 (GRCm39) E846V probably damaging Het
Cdh4 C A 2: 179,439,317 (GRCm39) H155N possibly damaging Het
Cela3a T C 4: 137,133,187 (GRCm39) I62V possibly damaging Het
Cr2 T C 1: 194,839,676 (GRCm39) R960G possibly damaging Het
Ddx42 T A 11: 106,133,765 (GRCm39) D580E probably damaging Het
Dnah17 T C 11: 117,987,387 (GRCm39) K1308E possibly damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Hcn3 C A 3: 89,055,168 (GRCm39) R693L probably benign Het
Hdlbp G A 1: 93,335,900 (GRCm39) R1199* probably null Het
Hook2 C T 8: 85,729,560 (GRCm39) Q667* probably null Het
Ibtk T C 9: 85,585,204 (GRCm39) I1147V probably benign Het
Itpk1 T C 12: 102,536,519 (GRCm39) T376A probably benign Het
Lars1 C T 18: 42,368,567 (GRCm39) V425I probably benign Het
Lgi4 T G 7: 30,760,037 (GRCm39) L78V probably damaging Het
Madd A T 2: 90,974,028 (GRCm39) C1419S possibly damaging Het
Mamld1 ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA X: 70,162,421 (GRCm39) probably benign Het
Mpp2 T C 11: 101,955,127 (GRCm39) E166G probably damaging Het
Mrgprb5 A G 7: 47,818,579 (GRCm39) L52P probably damaging Het
Nlrp2 T C 7: 5,331,128 (GRCm39) T423A probably benign Het
Nphs1 T A 7: 30,166,989 (GRCm39) L732* probably null Het
Pcdhb10 T C 18: 37,545,677 (GRCm39) I251T possibly damaging Het
Plcg1 T A 2: 160,597,725 (GRCm39) M789K possibly damaging Het
Pom121l2 T C 13: 22,168,417 (GRCm39) I896T probably benign Het
Ptpn4 T C 1: 119,612,321 (GRCm39) D24G probably damaging Het
Rbm28 T C 6: 29,135,513 (GRCm39) probably null Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rhebl1 A T 15: 98,776,167 (GRCm39) D162E probably benign Het
Runx1t1 T C 4: 13,771,501 (GRCm39) V15A probably benign Het
Serpina10 T A 12: 103,593,002 (GRCm39) I291F probably benign Het
Slc23a2 A G 2: 131,933,179 (GRCm39) I93T possibly damaging Het
Slc25a29 T C 12: 108,792,852 (GRCm39) E242G probably benign Het
Sulf1 A C 1: 12,867,018 (GRCm39) R67S probably benign Het
Syne2 A G 12: 75,974,240 (GRCm39) E1146G possibly damaging Het
Tmem45a A T 16: 56,643,882 (GRCm39) L89Q probably damaging Het
Top3a A C 11: 60,636,700 (GRCm39) V655G possibly damaging Het
Ttc23l A G 15: 10,523,678 (GRCm39) I347T possibly damaging Het
Other mutations in Gh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02739:Gh APN 11 106,192,559 (GRCm39) splice site probably benign
atto UTSW 11 106,192,230 (GRCm39) nonsense probably null
PIT4576001:Gh UTSW 11 106,191,659 (GRCm39) missense possibly damaging 0.73
R0003:Gh UTSW 11 106,192,346 (GRCm39) missense probably damaging 0.98
R1318:Gh UTSW 11 106,191,923 (GRCm39) missense probably benign 0.02
R2084:Gh UTSW 11 106,191,958 (GRCm39) missense probably damaging 1.00
R2279:Gh UTSW 11 106,191,613 (GRCm39) missense probably damaging 1.00
R6744:Gh UTSW 11 106,192,230 (GRCm39) nonsense probably null
R8033:Gh UTSW 11 106,191,381 (GRCm39) missense probably benign 0.42
R8079:Gh UTSW 11 106,192,253 (GRCm39) missense possibly damaging 0.91
R8924:Gh UTSW 11 106,191,634 (GRCm39) missense probably damaging 1.00
Z1176:Gh UTSW 11 106,192,010 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCCTGTCGTGGGAAAGAAG -3'
(R):5'- GCAGAGGTCACTAGGCAATACAC -3'

Sequencing Primer
(F):5'- AGACTCGGGAGCTGTGC -3'
(R):5'- GAGGTCACTAGGCAATACACTAACC -3'
Posted On 2014-10-16