Incidental Mutation 'PIT4576001:Gh'
ID 556386
Institutional Source Beutler Lab
Gene Symbol Gh
Ensembl Gene ENSMUSG00000020713
Gene Name growth hormone
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # PIT4576001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 106191097-106192691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106191659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 128 (F128I)
Ref Sequence ENSEMBL: ENSMUSP00000099360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103071]
AlphaFold P06880
Predicted Effect possibly damaging
Transcript: ENSMUST00000103071
AA Change: F128I

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099360
Gene: ENSMUSG00000020713
AA Change: F128I

DomainStartEndE-ValueType
Pfam:Hormone_1 10 214 2.1e-47 PFAM
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.8%
  • 10x: 85.3%
  • 20x: 72.8%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik T C 6: 65,929,983 (GRCm39) S73P probably damaging Het
5730596B20Rik G T 6: 52,156,449 (GRCm39) V172F unknown Het
Brms1 A G 19: 5,096,229 (GRCm39) K69E probably damaging Het
Calr4 A C 4: 109,093,053 (GRCm39) Q44H possibly damaging Het
Dnmt1 G A 9: 20,823,071 (GRCm39) T1242I probably benign Het
Dyrk3 A G 1: 131,057,918 (GRCm39) V85A probably damaging Het
Eif2a T C 3: 58,452,974 (GRCm39) Y250H probably damaging Het
Esco1 T C 18: 10,572,093 (GRCm39) E749G probably damaging Het
Fat1 A G 8: 45,477,682 (GRCm39) I2243V probably damaging Het
Gm17669 TAA TAAA 18: 67,695,819 (GRCm39) probably null Het
Gtpbp4 A G 13: 9,041,763 (GRCm39) Y150H probably damaging Het
H2ac15 C A 13: 21,937,781 (GRCm39) D73Y probably damaging Het
Itga8 A G 2: 12,234,903 (GRCm39) S452P probably benign Het
Kcnma1 C T 14: 23,359,103 (GRCm39) probably null Het
Macf1 T C 4: 123,367,114 (GRCm39) E2549G probably benign Het
Mindy1 C T 3: 95,195,380 (GRCm39) A41V probably benign Het
Mypn T A 10: 62,955,850 (GRCm39) K1201M probably damaging Het
Ncor1 A G 11: 62,224,543 (GRCm39) S906P probably damaging Het
Npy1r T C 8: 67,156,874 (GRCm39) V98A probably benign Het
Pate2 A G 9: 35,581,889 (GRCm39) Y61C probably damaging Het
Pfdn2 A G 1: 171,173,310 (GRCm39) S11G unknown Het
Prdm1 T C 10: 44,334,504 (GRCm39) M1V probably null Het
Prelp A G 1: 133,842,903 (GRCm39) S81P possibly damaging Het
Prss12 T C 3: 123,280,764 (GRCm39) V483A probably damaging Het
Prss43 G C 9: 110,656,955 (GRCm39) V154L probably damaging Het
Ptpru G A 4: 131,529,855 (GRCm39) R618* probably null Het
Rpa1 A G 11: 75,203,984 (GRCm39) S288P probably damaging Het
Semp2l1 T C 1: 32,585,553 (GRCm39) E119G probably damaging Het
Siglec1 A G 2: 130,920,081 (GRCm39) F817L probably damaging Het
Skint6 T A 4: 112,910,564 (GRCm39) S545C possibly damaging Het
Slit1 A T 19: 41,612,988 (GRCm39) V844D possibly damaging Het
Suclg2 G T 6: 95,563,999 (GRCm39) D195E possibly damaging Het
Tln1 G T 4: 43,539,998 (GRCm39) A1537D probably damaging Het
Trpv2 A G 11: 62,472,027 (GRCm39) D73G probably damaging Het
Ucp3 T C 7: 100,129,458 (GRCm39) S98P probably benign Het
Usp19 T A 9: 108,369,931 (GRCm39) probably null Het
Vmn2r112 T C 17: 22,833,912 (GRCm39) F527L probably benign Het
Vmn2r93 T C 17: 18,533,473 (GRCm39) V459A probably benign 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
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
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'- CCTGGAGGCTTCATAAAGGAAAATG -3'
(R):5'- AGAACCGTGAGTAGTCCCAG -3'

Sequencing Primer
(F):5'- TAAAGGAAAATGAAGAAGAAGAAGCC -3'
(R):5'- AGGCCTTGTCTGCACAAATC -3'
Posted On 2019-06-07