Incidental Mutation 'R8386:Gast'
ID 647170
Institutional Source Beutler Lab
Gene Symbol Gast
Ensembl Gene ENSMUSG00000017165
Gene Name gastrin
Synonyms GAS
MMRRC Submission 067752-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R8386 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 100225233-100227822 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100227691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 91 (D91G)
Ref Sequence ENSEMBL: ENSMUSP00000017309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017309]
AlphaFold P48757
Predicted Effect probably damaging
Transcript: ENSMUST00000017309
AA Change: D91G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000017309
Gene: ENSMUSG00000017165
AA Change: D91G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
GASTRIN 88 101 5.83e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the peptide hormone gastrin, which stimulates gastric acid secretion, proliferation, cell migration and angiogenesis, as well as inhibits apoptosis. The encoded preproprotein undergoes proteolytic processing to generate multiple gastrin peptides differing in size. Mice lacking the encoded protein exhibit a decrease in the number of parietal cells, achlorohydria and a decrease in the colonic proliferation. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygotes for targeted null alleles exhibit an absence of gastric acid secretion, alterations in gastric architecture, fasting hypoglycemia with impaired glucagon response, and increased susceptibility to azoxymethane-induced colon tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 G T 11: 110,021,518 (GRCm39) A1064D probably damaging Het
Adgb A G 10: 10,226,048 (GRCm39) I1390T probably damaging Het
Aktip G A 8: 91,857,674 (GRCm39) R13C probably benign Het
Arnt2 T A 7: 83,996,747 (GRCm39) I71F probably damaging Het
Casr T A 16: 36,335,950 (GRCm39) I120F probably damaging Het
Cilp G A 9: 65,186,286 (GRCm39) G794S probably damaging Het
Cntnap1 A T 11: 101,073,029 (GRCm39) R544S probably damaging Het
Cse1l T C 2: 166,761,604 (GRCm39) S53P probably benign Het
Cyfip1 T C 7: 55,527,488 (GRCm39) S207P probably damaging Het
Fam120b G A 17: 15,643,246 (GRCm39) S675N probably benign Het
Fcna C T 2: 25,516,027 (GRCm39) W163* probably null Het
Igkv6-14 T C 6: 70,411,966 (GRCm39) Y106C probably damaging Het
Lin28b A G 10: 45,345,140 (GRCm39) V62A probably damaging Het
Malrd1 T A 2: 15,701,655 (GRCm39) S757T unknown Het
Ms4a15 A T 19: 10,970,546 (GRCm39) C3S unknown Het
Muc5ac G A 7: 141,361,371 (GRCm39) V1561I possibly damaging Het
Ndufb11b C T 15: 81,864,830 (GRCm39) L24F probably damaging Het
Or4c11c G A 2: 88,661,633 (GRCm39) M57I possibly damaging Het
Or5p70 TTTCTTCTTCT TTTCTTCT 7: 107,994,555 (GRCm39) probably benign Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Ppp1r3c T C 19: 36,711,338 (GRCm39) D144G probably damaging Het
Setd1b T A 5: 123,282,319 (GRCm39) V149D unknown Het
Shcbp1 A C 8: 4,817,951 (GRCm39) W115G probably damaging Het
Shroom1 A T 11: 53,357,230 (GRCm39) K631M probably damaging Het
Sipa1l2 A T 8: 126,218,832 (GRCm39) S168R probably damaging Het
Slc12a4 A T 8: 106,678,250 (GRCm39) N314K probably damaging Het
Syngap1 T A 17: 27,179,465 (GRCm39) M755K possibly damaging Het
Tnik A G 3: 28,317,823 (GRCm39) D11G unknown Het
Trim80 A G 11: 115,335,900 (GRCm39) D274G probably damaging Het
Ush2a A G 1: 188,460,403 (GRCm39) T2555A possibly damaging Het
Vps13a A T 19: 16,678,483 (GRCm39) probably null Het
Wnt7a C T 6: 91,343,270 (GRCm39) G204D probably damaging Het
Zfp420 A T 7: 29,575,043 (GRCm39) Y421F probably benign Het
Zfp882 A G 8: 72,667,962 (GRCm39) H263R probably benign Het
Other mutations in Gast
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02514:Gast APN 11 100,227,718 (GRCm39) missense probably benign
R1769:Gast UTSW 11 100,227,684 (GRCm39) missense probably damaging 1.00
R3801:Gast UTSW 11 100,227,636 (GRCm39) missense probably damaging 0.99
R3804:Gast UTSW 11 100,227,636 (GRCm39) missense probably damaging 0.99
R4356:Gast UTSW 11 100,227,373 (GRCm39) missense probably damaging 0.99
R6334:Gast UTSW 11 100,227,438 (GRCm39) missense probably benign 0.03
R8354:Gast UTSW 11 100,227,394 (GRCm39) missense probably benign 0.00
R8454:Gast UTSW 11 100,227,394 (GRCm39) missense probably benign 0.00
R9037:Gast UTSW 11 100,227,436 (GRCm39) missense probably damaging 1.00
X0024:Gast UTSW 11 100,227,489 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- CACTTCATAGCAGGTAGTAGCTGC -3'
(R):5'- TCTTGGGTCTGCCTCTAAGG -3'

Sequencing Primer
(F):5'- CTGAGCCAGCCAGGTTTAG -3'
(R):5'- GCCTCTAAGGTGTACTCAGC -3'
Posted On 2020-09-02