Mutagenetix > Incidental Mutation

Incidental Mutation 'R1769:Gast'

194722

Institutional Source

Beutler Lab

Gene Symbol

Gast

Ensembl Gene

ENSMUSG00000017165

Gene Name

gastrin

Synonyms

GAS

MMRRC Submission

039800-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R1769 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100225233-100227822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100227684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 89 (W89R)

Ref Sequence

ENSEMBL: ENSMUSP00000017309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017309]

AlphaFold

P48757

Predicted Effect

probably damaging
Transcript: ENSMUST00000017309
AA Change: W89R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000017309
Gene: ENSMUSG00000017165
AA Change: W89R

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
GASTRIN	88	101	5.83e-3	SMART

Meta Mutation Damage Score

0.8942

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

100% (91/91)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	G	5: 138,644,519 (GRCm39)	I135V	probably benign	Het
Abca1	T	A	4: 53,074,325 (GRCm39)	K1119N	probably damaging	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Abcc9	T	C	6: 142,573,194 (GRCm39)		probably benign	Het
Akap3	A	G	6: 126,842,809 (GRCm39)	E476G	possibly damaging	Het
Aldh3b1	A	G	19: 3,968,740 (GRCm39)	F271S	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ascc3	T	C	10: 50,576,586 (GRCm39)	V847A	probably damaging	Het
Best3	A	G	10: 116,859,883 (GRCm39)	N381S	probably benign	Het
Blm	A	T	7: 80,163,118 (GRCm39)	S78T	probably benign	Het
Bmpr2	T	A	1: 59,907,520 (GRCm39)	L871Q	probably damaging	Het
Car13	T	A	3: 14,715,795 (GRCm39)	H104Q	probably benign	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Ccnb1ip1	T	C	14: 51,029,568 (GRCm39)	M165V	probably benign	Het
Cd4	A	T	6: 124,843,618 (GRCm39)	M431K	possibly damaging	Het
Cdh20	C	T	1: 109,980,606 (GRCm39)	T178I	probably damaging	Het
Ceacam3	C	T	7: 16,892,301 (GRCm39)	T348I	probably damaging	Het
Cfap54	C	T	10: 92,740,125 (GRCm39)		probably null	Het
Clcn6	A	T	4: 148,098,758 (GRCm39)		probably null	Het
Csf3	A	G	11: 98,593,246 (GRCm39)	Y121C	probably damaging	Het
Csmd3	C	T	15: 47,567,505 (GRCm39)		probably benign	Het
Cyp2c69	A	G	19: 39,864,815 (GRCm39)	I221T	probably benign	Het
Dgcr2	T	C	16: 17,675,115 (GRCm39)		probably benign	Het
Dhcr7	T	C	7: 143,401,250 (GRCm39)	F474S	probably damaging	Het
Dnah1	T	C	14: 31,032,839 (GRCm39)	I399V	probably null	Het
Efcab14	T	A	4: 115,610,188 (GRCm39)	L183Q	probably damaging	Het
Evx2	A	G	2: 74,489,501 (GRCm39)	V88A	probably benign	Het
Exph5	A	G	9: 53,285,109 (GRCm39)	N730S	probably benign	Het
Farsb	T	A	1: 78,443,620 (GRCm39)	K196I	probably benign	Het
Fbln7	C	T	2: 128,735,682 (GRCm39)		probably benign	Het
Fhdc1	A	G	3: 84,356,085 (GRCm39)	F453S	probably damaging	Het
Gata2	A	G	6: 88,182,237 (GRCm39)	S402G	probably benign	Het
Gin1	T	A	1: 97,720,162 (GRCm39)	S386T	probably benign	Het
Golgb1	A	G	16: 36,736,363 (GRCm39)	E1870G	probably damaging	Het
Hivep3	T	A	4: 119,954,768 (GRCm39)	V1028E	possibly damaging	Het
Ifi203	G	A	1: 173,756,326 (GRCm39)	R486*	probably null	Het
Ifi209	G	A	1: 173,468,728 (GRCm39)	S186N	probably benign	Het
Ifih1	C	T	2: 62,436,738 (GRCm39)	A562T	probably damaging	Het
Itch	T	C	2: 155,014,481 (GRCm39)	L106S	probably damaging	Het
Itga4	T	A	2: 79,146,050 (GRCm39)		probably null	Het
Kdm4c	A	G	4: 74,199,234 (GRCm39)	S141G	possibly damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klra3	T	C	6: 130,307,226 (GRCm39)		probably null	Het
Lama2	G	C	10: 27,084,403 (GRCm39)	F922L	probably benign	Het
Lama2	A	T	10: 27,084,402 (GRCm39)	S923T	probably damaging	Het
Llgl1	G	A	11: 60,597,873 (GRCm39)	V331M	probably damaging	Het
Lrrc30	T	C	17: 67,938,676 (GRCm39)	*301W	probably null	Het
Map1lc3b	C	T	8: 122,320,226 (GRCm39)		probably benign	Het
Mbd2	A	G	18: 70,749,690 (GRCm39)	I302V	probably benign	Het
Med27	A	G	2: 29,390,307 (GRCm39)	Y78C	probably damaging	Het
Mei1	C	T	15: 81,996,771 (GRCm39)		probably null	Het
Mideas	G	A	12: 84,205,124 (GRCm39)		probably benign	Het
Miga1	T	C	3: 151,993,191 (GRCm39)	E346G	probably damaging	Het
Myef2	A	G	2: 124,957,363 (GRCm39)	S131P	probably damaging	Het
Myocd	T	C	11: 65,069,527 (GRCm39)	H899R	probably benign	Het
Ncam1	A	G	9: 49,456,556 (GRCm39)		probably benign	Het
Ngf	T	A	3: 102,427,513 (GRCm39)	N87K	possibly damaging	Het
Nol10	T	A	12: 17,466,709 (GRCm39)		probably benign	Het
Nrip2	A	G	6: 128,385,231 (GRCm39)	I221V	probably benign	Het
Nup205	G	A	6: 35,182,366 (GRCm39)	G777D	probably damaging	Het
Or5ac17	A	G	16: 59,036,344 (GRCm39)	F211L	probably benign	Het
Or5b96	A	G	19: 12,867,047 (GRCm39)	V298A	probably damaging	Het
Or6c1	T	A	10: 129,518,081 (GRCm39)	T176S	probably benign	Het
Or7g35	A	T	9: 19,496,682 (GRCm39)	Q283L	probably damaging	Het
Or8d6	G	T	9: 39,854,251 (GRCm39)	D232Y	probably benign	Het
Oxt	A	T	2: 130,418,220 (GRCm39)	R31W	probably damaging	Het
Pde4dip	A	G	3: 97,603,246 (GRCm39)	S2248P	probably benign	Het
Pias1	A	G	9: 62,859,460 (GRCm39)	V16A	probably damaging	Het
Pkp2	T	C	16: 16,080,561 (GRCm39)	S616P	probably damaging	Het
Plch2	T	C	4: 155,084,540 (GRCm39)	Y379C	probably damaging	Het
Pnpt1	A	G	11: 29,104,159 (GRCm39)	N540D	probably benign	Het
Ptpn23	G	A	9: 110,220,746 (GRCm39)	H255Y	possibly damaging	Het
Rad21	T	C	15: 51,835,703 (GRCm39)	N237D	probably benign	Het
Ryr3	A	C	2: 112,582,113 (GRCm39)		probably null	Het
Sgk1	C	A	10: 21,873,007 (GRCm39)		probably benign	Het
Slc1a5	G	T	7: 16,531,464 (GRCm39)	A490S	probably damaging	Het
Slc5a8	T	C	10: 88,755,326 (GRCm39)	Y478H	probably benign	Het
Slc5a8	T	A	10: 88,755,328 (GRCm39)	Y478*	probably null	Het
Slc9a3	A	T	13: 74,311,190 (GRCm39)	M562L	probably benign	Het
Spmip4	A	G	6: 50,568,801 (GRCm39)		probably benign	Het
Thsd7a	G	A	6: 12,555,714 (GRCm39)	R57*	probably null	Het
Tiam1	T	C	16: 89,657,167 (GRCm39)	R690G	probably damaging	Het
Tmem150b	A	G	7: 4,727,365 (GRCm39)	S47P	probably damaging	Het
Trim39	C	T	17: 36,574,832 (GRCm39)	R190Q	probably damaging	Het
Ttc32	A	T	12: 9,085,073 (GRCm39)	I98L	possibly damaging	Het
Vps13c	A	G	9: 67,873,003 (GRCm39)	T3304A	probably benign	Het
Wdr35	A	C	12: 9,062,728 (GRCm39)	D638A	probably damaging	Het
Wwc1	G	T	11: 35,752,671 (GRCm39)	P797T	probably benign	Het
Zan	T	A	5: 137,462,780 (GRCm39)	T800S	unknown	Het
Zbbx	A	G	3: 74,990,926 (GRCm39)		probably benign	Het
Zup1	T	C	10: 33,811,172 (GRCm39)	M291V	probably damaging	Het

Other mutations in Gast

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02514:Gast	APN	11	100,227,718 (GRCm39)	missense	probably benign
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
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'- TGGAACAGCGCCAGTTCAACAAG -3'
(R):5'- AGTCAAGCACATGACATGACTCAGG -3'

Sequencing Primer
(F):5'- GTCCTCAACACTTCATAGCAGGTAG -3'
(R):5'- CATGACATGACTCAGGGATACATTG -3'

Posted On

2014-05-23