Incidental Mutation 'R1318:Gh'
ID 157610
Institutional Source Beutler Lab
Gene Symbol Gh
Ensembl Gene ENSMUSG00000020713
Gene Name growth hormone
Synonyms
MMRRC Submission 039384-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # R1318 (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 106191923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 96 (T96A)
Ref Sequence ENSEMBL: ENSMUSP00000099360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103071]
AlphaFold P06880
Predicted Effect probably benign
Transcript: ENSMUST00000103071
AA Change: T96A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000099360
Gene: ENSMUSG00000020713
AA Change: T96A

DomainStartEndE-ValueType
Pfam:Hormone_1 10 214 2.1e-47 PFAM
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 92.9%
  • 20x: 82.6%
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G T 5: 8,751,621 (GRCm39) V334L probably benign Het
Alms1 T G 6: 85,605,531 (GRCm39) S1925A possibly damaging Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Comt G T 16: 18,226,641 (GRCm39) D248E probably damaging Het
Ctnna2 A C 6: 76,859,773 (GRCm39) N874K probably damaging Het
Dnah7b C T 1: 46,138,669 (GRCm39) P237L possibly damaging Het
Galnt4 T G 10: 98,945,772 (GRCm39) V499G probably damaging Het
Gng8 T C 7: 16,629,161 (GRCm39) V29A probably damaging Het
Hnrnpu G A 1: 178,157,822 (GRCm39) probably benign Het
Igdcc4 T C 9: 65,040,972 (GRCm39) L1001P probably damaging Het
Jph1 A C 1: 17,067,714 (GRCm39) F658V probably damaging Het
Kcnj3 A T 2: 55,327,750 (GRCm39) M180L possibly damaging Het
Ldb2 C T 5: 44,692,379 (GRCm39) probably null Het
Mettl2 C A 11: 105,028,597 (GRCm39) Y316* probably null Het
Mug2 G A 6: 122,054,361 (GRCm39) V1047M probably damaging Het
Mxra8 G T 4: 155,925,956 (GRCm39) C140F probably damaging Het
Mylip T C 13: 45,559,401 (GRCm39) I101T probably benign Het
Oasl2 A G 5: 115,039,442 (GRCm39) N210S probably benign Het
Pclo A G 5: 14,729,328 (GRCm39) probably benign Het
Plaat3 T A 19: 7,556,591 (GRCm39) probably null Het
Rims2 G A 15: 39,381,222 (GRCm39) R1051H probably damaging Het
Rnf4 C A 5: 34,508,590 (GRCm39) R151S probably damaging Het
Serpina11 A T 12: 103,952,777 (GRCm39) probably benign Het
Trim30b T A 7: 104,006,542 (GRCm39) T105S possibly damaging Het
Ttn T C 2: 76,706,164 (GRCm39) probably benign Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Zranb1 C A 7: 132,568,281 (GRCm39) S313* probably null 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
R2084:Gh UTSW 11 106,191,958 (GRCm39) missense probably damaging 1.00
R2277:Gh UTSW 11 106,191,613 (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'- CGAGAAGCGAAGCAATTCCATGTCC -3'
(R):5'- CCCCAGGAAGTCATTGAGGGAAAC -3'

Sequencing Primer
(F):5'- AGCAATTCCATGTCCTGAGG -3'
(R):5'- GGAATCTTAGCCAATGCTGTACC -3'
Posted On 2014-02-18