Incidental Mutation 'R8454:Gast'
ID 654948
Institutional Source Beutler Lab
Gene Symbol Gast
Ensembl Gene ENSMUSG00000017165
Gene Name gastrin
Synonyms GAS
MMRRC Submission 067831-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R8454 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 100225233-100227822 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100227394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 29 (L29P)
Ref Sequence ENSEMBL: ENSMUSP00000017309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017309]
AlphaFold P48757
Predicted Effect probably benign
Transcript: ENSMUST00000017309
AA Change: L29P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000017309
Gene: ENSMUSG00000017165
AA Change: L29P

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: 99.7%
  • 20x: 98.9%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C A 17: 46,635,103 (GRCm39) G300V possibly damaging Het
Adgrg7 C G 16: 56,616,045 (GRCm39) probably benign Het
Agt G A 8: 125,290,842 (GRCm39) T155M probably benign Het
Atp8b3 A G 10: 80,361,633 (GRCm39) V763A probably benign Het
Btn1a1 C A 13: 23,648,420 (GRCm39) V138L probably benign Het
Cd163 A T 6: 124,305,924 (GRCm39) N1109I probably benign Het
Cideb T A 14: 55,992,598 (GRCm39) Q106L possibly damaging Het
Cntn1 A G 15: 92,130,130 (GRCm39) T126A probably benign Het
Dnai3 T C 3: 145,802,982 (GRCm39) K70E probably damaging Het
Elfn1 T C 5: 139,957,226 (GRCm39) Y77H probably damaging Het
Eml3 A G 19: 8,912,358 (GRCm39) H386R probably damaging Het
Fbxo21 A G 5: 118,133,479 (GRCm39) D413G probably damaging Het
Fkbp8 T A 8: 70,984,413 (GRCm39) probably null Het
Fzd1 T C 5: 4,807,336 (GRCm39) Q82R probably benign Het
Glb1l2 C A 9: 26,717,713 (GRCm39) probably benign Het
Gm1110 C G 9: 26,794,576 (GRCm39) Q483H probably benign Het
Gm1110 T A 9: 26,794,577 (GRCm39) Q483L probably benign Het
Gpc6 T C 14: 117,163,391 (GRCm39) L15P probably damaging Het
Hagh C A 17: 25,076,536 (GRCm39) S161* probably null Het
Hrh1 A G 6: 114,457,814 (GRCm39) D365G probably benign Het
Ighv1-36 A T 12: 114,843,560 (GRCm39) M100K probably damaging Het
Itgb8 A T 12: 119,134,513 (GRCm39) V518D probably benign Het
Krt82 T C 15: 101,450,238 (GRCm39) Y486C probably damaging Het
Lmbr1l A G 15: 98,810,357 (GRCm39) S85P probably damaging Het
Met A G 6: 17,491,768 (GRCm39) S177G probably damaging Het
Myl9 T A 2: 156,623,048 (GRCm39) I162N possibly damaging Het
Npat T A 9: 53,478,251 (GRCm39) N973K possibly damaging Het
Or5p68 A T 7: 107,945,889 (GRCm39) C100S probably damaging Het
Pcdhga12 A T 18: 37,901,190 (GRCm39) D674V possibly damaging Het
Phtf1 T A 3: 103,911,765 (GRCm39) N702K probably damaging Het
Plaa A T 4: 94,457,714 (GRCm39) I752N probably damaging Het
Pnpla2 T C 7: 141,038,011 (GRCm39) C194R probably damaging Het
Rnaseh2a T C 8: 85,691,776 (GRCm39) N133S probably benign Het
Rps6ka1 T A 4: 133,575,864 (GRCm39) Q685L probably benign Het
Ryr1 C A 7: 28,715,142 (GRCm39) G4661C unknown Het
Samd13 T A 3: 146,352,157 (GRCm39) M65L probably benign Het
Sdr42e2 T A 7: 120,430,403 (GRCm39) V420E possibly damaging Het
Sec22c A G 9: 121,524,721 (GRCm39) S21P probably damaging Het
Sh3d19 C A 3: 86,014,329 (GRCm39) T431K probably benign Het
Sin3b A G 8: 73,468,108 (GRCm39) M277V probably benign Het
Sis T C 3: 72,854,834 (GRCm39) T468A possibly damaging Het
Slitrk3 T C 3: 72,956,513 (GRCm39) N753S probably benign Het
Slitrk6 C A 14: 110,989,478 (GRCm39) L76F probably damaging Het
Stk3 C T 15: 34,876,870 (GRCm39) A478T probably damaging Het
Styxl2 A T 1: 165,935,702 (GRCm39) N165K probably damaging Het
Sugp1 C A 8: 70,524,247 (GRCm39) Y617* probably null Het
Tinag T C 9: 76,938,977 (GRCm39) D167G probably damaging Het
Tk2 A G 8: 104,967,746 (GRCm39) probably null Het
Tmem209 A T 6: 30,489,308 (GRCm39) V514D probably damaging Het
Tmprss9 A G 10: 80,723,320 (GRCm39) H260R probably benign Het
Tnfrsf14 T A 4: 155,011,112 (GRCm39) Y83F possibly damaging Het
Tnfrsf8 A T 4: 145,014,553 (GRCm39) D285E probably benign Het
Togaram2 C G 17: 72,004,873 (GRCm39) A310G probably benign Het
Trpv3 A G 11: 73,182,448 (GRCm39) Y544C probably damaging Het
Ttl T A 2: 128,908,104 (GRCm39) V13D probably damaging Het
Usp40 A T 1: 87,908,694 (GRCm39) D602E probably benign Het
Vamp5 A G 6: 72,347,376 (GRCm39) probably benign Het
Vmn2r65 T A 7: 84,589,402 (GRCm39) H838L possibly damaging Het
Vps35l T A 7: 118,391,795 (GRCm39) F493Y probably benign Het
Zfp960 T A 17: 17,308,461 (GRCm39) Y392N 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
R8386:Gast UTSW 11 100,227,691 (GRCm39) missense probably damaging 0.99
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'- AGAGCTCATCTGGTCTAGCC -3'
(R):5'- CTTCTTGGACAGGTCTGAGGAG -3'

Sequencing Primer
(F):5'- CCTTTACCTCTGGGACTATGGAATAG -3'
(R):5'- TCTCAAAGAACTGTGGGGTC -3'
Posted On 2020-10-20