Incidental Mutation 'R2279:Gh'
ID 242989
Institutional Source Beutler Lab
Gene Symbol Gh
Ensembl Gene ENSMUSG00000020713
Gene Name growth hormone
Synonyms
MMRRC Submission 040278-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # R2279 (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: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 G T 5: 90,412,576 (GRCm39) N1249K probably damaging Het
Anks1b T C 10: 89,885,958 (GRCm39) M218T probably damaging Het
Arfgef2 G C 2: 166,707,679 (GRCm39) G1025A probably benign Het
Arhgap21 T C 2: 20,868,037 (GRCm39) I829V possibly damaging Het
Arhgap42 T C 9: 9,035,512 (GRCm39) M277V probably benign Het
Cabin1 T C 10: 75,589,295 (GRCm39) I87M probably benign Het
Cdc42bpa A G 1: 179,864,484 (GRCm39) N149D probably damaging Het
Cdh20 C A 1: 104,875,139 (GRCm39) A307E probably damaging Het
Cdk18 A T 1: 132,043,690 (GRCm39) Y385N probably damaging Het
Cfap410 T C 10: 77,817,476 (GRCm39) Y68H probably damaging Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Cptp A G 4: 155,950,878 (GRCm39) I196T probably damaging Het
Cyp4b1 T A 4: 115,497,557 (GRCm39) Y147F probably benign Het
Dbf4 T C 5: 8,471,333 (GRCm39) N36S possibly damaging Het
Dbr1 G T 9: 99,462,200 (GRCm39) Q166H probably benign 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
Dpep1 A T 8: 123,920,883 (GRCm39) D21V probably benign Het
Dspp G A 5: 104,326,250 (GRCm39) S871N unknown Het
En1 T A 1: 120,534,916 (GRCm39) *402K probably null Het
Eogt G T 6: 97,111,262 (GRCm39) R200S probably benign Het
Epb41l3 A G 17: 69,577,645 (GRCm39) T542A possibly damaging Het
Fam50b C T 13: 34,930,823 (GRCm39) Q100* probably null Het
Gask1a T C 9: 121,794,668 (GRCm39) I274T probably benign Het
Hcn3 C A 3: 89,055,168 (GRCm39) R693L probably benign Het
Htra1 A T 7: 130,563,752 (GRCm39) I208F probably damaging Het
Ifna13 T A 4: 88,562,156 (GRCm39) E156V probably benign Het
Ints6 A G 14: 62,942,131 (GRCm39) probably null Het
Kifc5b A G 17: 27,144,515 (GRCm39) I545V probably damaging Het
Lrrc4c C T 2: 97,460,850 (GRCm39) S492F possibly damaging Het
Madd A T 2: 90,974,028 (GRCm39) C1419S possibly damaging Het
Map2k6 T C 11: 110,390,290 (GRCm39) S275P probably damaging Het
Mpp2 T C 11: 101,955,127 (GRCm39) E166G probably damaging Het
Mrpl48 G A 7: 100,214,471 (GRCm39) T48I probably damaging Het
Neu1 A G 17: 35,153,350 (GRCm39) D291G probably damaging Het
Nktr A G 9: 121,560,603 (GRCm39) K116E possibly damaging Het
Npc1 T C 18: 12,330,236 (GRCm39) probably null Het
Or6b9 A T 7: 106,555,834 (GRCm39) M103K probably benign Het
Or6c1b A T 10: 129,273,526 (GRCm39) M282L probably benign Het
Or8k1 T C 2: 86,047,148 (GRCm39) E302G probably benign Het
Pclo T A 5: 14,764,287 (GRCm39) D4253E unknown Het
Phactr1 A T 13: 43,231,265 (GRCm39) S244C possibly damaging Het
Prex1 A T 2: 166,419,875 (GRCm39) I79N probably benign Het
Rhebl1 A T 15: 98,776,167 (GRCm39) D162E probably benign Het
Rnf32 G T 5: 29,430,278 (GRCm39) V366F probably benign Het
Rpn2 A G 2: 157,152,208 (GRCm39) T394A possibly damaging Het
Ryr3 A T 2: 112,479,664 (GRCm39) M4386K possibly damaging Het
Sirt7 T C 11: 120,515,321 (GRCm39) S112G probably damaging Het
Slc1a6 A T 10: 78,624,882 (GRCm39) M96L probably benign Het
Slc25a29 T C 12: 108,792,852 (GRCm39) E242G probably benign Het
Slc30a2 G T 4: 134,075,857 (GRCm39) Q210H probably benign Het
Sorcs2 A T 5: 36,199,430 (GRCm39) probably null Het
Spink5 A G 18: 44,119,396 (GRCm39) N236D probably benign Het
Syne2 A G 12: 75,974,240 (GRCm39) E1146G possibly damaging Het
Sytl3 A G 17: 6,976,273 (GRCm39) probably benign Het
Tasor A C 14: 27,164,452 (GRCm39) K253Q probably damaging Het
Tgm7 A G 2: 120,929,045 (GRCm39) S284P probably damaging Het
Tmem45a A T 16: 56,643,882 (GRCm39) L89Q probably damaging Het
Ttc23l A G 15: 10,523,678 (GRCm39) I347T possibly damaging Het
Txlna T C 4: 129,525,935 (GRCm39) E304G probably damaging Het
Zfp709 T C 8: 72,642,934 (GRCm39) V121A 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
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
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'- TCCTGTCGTGGGAAAGAAGG -3'
(R):5'- GGCAGAGGTCACTAGGCAATAC -3'

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