Incidental Mutation 'R2084:Gh'
ID 230220
Institutional Source Beutler Lab
Gene Symbol Gh
Ensembl Gene ENSMUSG00000020713
Gene Name growth hormone
Synonyms
MMRRC Submission 040089-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # R2084 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 106191097-106192691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 106191958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 84 (P84L)
Ref Sequence ENSEMBL: ENSMUSP00000099360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103071]
AlphaFold P06880
Predicted Effect probably damaging
Transcript: ENSMUST00000103071
AA Change: P84L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099360
Gene: ENSMUSG00000020713
AA Change: P84L

DomainStartEndE-ValueType
Pfam:Hormone_1 10 214 2.1e-47 PFAM
Meta Mutation Damage Score 0.4820 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 C T 11: 5,612,378 (GRCm39) Q1237* probably null Het
Aph1c T G 9: 66,726,579 (GRCm39) R258S probably damaging Het
Arfgap3 T A 15: 83,218,767 (GRCm39) N102I probably damaging Het
Astn1 T C 1: 158,299,978 (GRCm39) V106A probably damaging Het
BC005537 G T 13: 24,996,698 (GRCm39) probably null Het
Card10 G A 15: 78,677,171 (GRCm39) T412M possibly damaging Het
Cars1 T C 7: 143,140,919 (GRCm39) I126M probably benign Het
Cfap20dc T C 14: 8,558,171 (GRCm38) D138G probably damaging Het
Col11a1 C T 3: 113,951,791 (GRCm39) R1074C probably damaging Het
Cpped1 T C 16: 11,646,365 (GRCm39) D153G probably damaging Het
Cyp2j11 T A 4: 96,227,438 (GRCm39) I193F probably damaging Het
Dnm2 T C 9: 21,411,667 (GRCm39) probably null Het
Efemp1 A G 11: 28,865,763 (GRCm39) D288G probably damaging Het
Espl1 T C 15: 102,205,286 (GRCm39) probably null Het
Fcgbpl1 G A 7: 27,856,960 (GRCm39) V2103M probably damaging Het
Fcrl5 T C 3: 87,351,537 (GRCm39) F262L probably benign Het
Gm10267 T C 18: 44,290,397 (GRCm39) R37G probably benign Het
Hmgxb3 C T 18: 61,288,095 (GRCm39) probably benign Het
Ifit2 T C 19: 34,550,750 (GRCm39) W97R probably damaging Het
Ift81 T G 5: 122,705,410 (GRCm39) K491Q probably benign Het
Ints8 A G 4: 11,230,377 (GRCm39) V488A probably benign Het
Krba1 T A 6: 48,391,502 (GRCm39) L797Q probably damaging Het
Krr1 T C 10: 111,812,690 (GRCm39) V100A probably damaging Het
Nav1 C T 1: 135,535,158 (GRCm39) probably benign Het
Nos1 C A 5: 118,081,310 (GRCm39) Q1205K probably damaging Het
Nup85 A T 11: 115,459,517 (GRCm39) D125V possibly damaging Het
Or5ak23 T C 2: 85,244,959 (GRCm39) E88G probably benign Het
Pclo T G 5: 14,732,162 (GRCm39) S3555A probably benign Het
Pdzrn3 T C 6: 101,131,256 (GRCm39) I473V probably benign Het
Polr1a A G 6: 71,927,793 (GRCm39) E848G possibly damaging Het
Pop1 T C 15: 34,508,744 (GRCm39) probably benign Het
Pramel23 T A 4: 143,425,920 (GRCm39) T8S probably damaging Het
Prpf3 C T 3: 95,756,301 (GRCm39) E117K probably benign Het
Psmg3 C T 5: 139,809,744 (GRCm39) V101M probably benign Het
Rexo1 G A 10: 80,397,100 (GRCm39) S52L probably benign Het
Ryk C T 9: 102,752,971 (GRCm39) T210M probably damaging Het
Sde2 A G 1: 180,690,198 (GRCm39) E306G probably damaging Het
Sec24c A G 14: 20,741,347 (GRCm39) Q658R probably benign Het
Sgsm1 G A 5: 113,433,266 (GRCm39) T183I probably damaging Het
Skint7 T A 4: 111,837,375 (GRCm39) V51E probably damaging Het
Slc6a5 T A 7: 49,598,002 (GRCm39) M622K probably benign Het
Slco1a5 T C 6: 142,180,437 (GRCm39) H655R probably benign Het
Slco1c1 T A 6: 141,505,578 (GRCm39) Y452* probably null Het
Spn T C 7: 126,736,210 (GRCm39) E99G probably benign Het
Ssc5d A G 7: 4,940,011 (GRCm39) I789V probably benign Het
Taok2 G A 7: 126,469,363 (GRCm39) T1155I probably benign Het
Tet2 T C 3: 133,193,528 (GRCm39) Q302R possibly damaging Het
Trmt1l A G 1: 151,316,605 (GRCm39) T189A probably damaging Het
Tubal3 T C 13: 3,978,192 (GRCm39) I36T possibly damaging Het
Vmn2r71 A T 7: 85,267,945 (GRCm39) Y133F probably benign Het
Vps11 G T 9: 44,264,558 (GRCm39) H673N probably benign Het
Zc3h12a C T 4: 125,013,802 (GRCm39) S354N probably benign Het
Zfp2 A G 11: 50,791,789 (GRCm39) S85P 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
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
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'- GTGTATTGCCTAGTGACCTCTG -3'
(R):5'- CCGTTTGTGGAAGCAGGAAG -3'

Sequencing Primer
(F):5'- TAGTGACCTCTGCCTGGGACTC -3'
(R):5'- TGCCCCCAGGAAGTCATTGAG -3'
Posted On 2014-09-18