Mutagenetix > Incidental Mutation

Incidental Mutation 'R3804:Gast'

274513

Institutional Source

Beutler Lab

Gene Symbol

Gast

Ensembl Gene

ENSMUSG00000017165

Gene Name

gastrin

Synonyms

GAS

MMRRC Submission

040879-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R3804 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100225233-100227822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100227636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 73 (S73P)

Ref Sequence

ENSEMBL: ENSMUSP00000017309 (fasta)

Gene Model

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

AlphaFold

P48757

Predicted Effect

probably damaging
Transcript: ENSMUST00000017309
AA Change: S73P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000017309
Gene: ENSMUSG00000017165
AA Change: S73P

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

Meta Mutation Damage Score

0.4586

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	C	T	8: 79,974,922 (GRCm39)	E54K	probably benign	Het
Adgra1	A	G	7: 139,425,510 (GRCm39)	T8A	probably benign	Het
Alms1	A	G	6: 85,596,629 (GRCm39)	Y954C	probably damaging	Het
AU021092	A	C	16: 5,034,626 (GRCm39)	F199V	possibly damaging	Het
Bahcc1	C	T	11: 120,174,184 (GRCm39)	P1648L	probably benign	Het
Cacna1s	T	A	1: 136,034,756 (GRCm39)	C1319S	possibly damaging	Het
Capn13	G	A	17: 73,646,396 (GRCm39)	P339L	probably benign	Het
Ccdc39	A	T	3: 33,874,044 (GRCm39)	M596K	probably damaging	Het
Cfap418	A	G	4: 10,898,014 (GRCm39)	T199A	probably benign	Het
Cntn5	A	G	9: 9,781,668 (GRCm39)		probably benign	Het
Cyth4	A	G	15: 78,494,002 (GRCm39)	K159E	probably damaging	Het
Dgkz	C	A	2: 91,769,975 (GRCm39)	R563L	probably benign	Het
Dnah8	A	G	17: 30,889,621 (GRCm39)	E718G	probably benign	Het
Dop1a	T	C	9: 86,403,048 (GRCm39)	L1416P	probably damaging	Het
Dstyk	G	A	1: 132,377,464 (GRCm39)	A110T	probably damaging	Het
Eif1	A	G	11: 100,211,650 (GRCm39)	K95E	probably damaging	Het
Espnl	A	G	1: 91,249,943 (GRCm39)	D30G	probably benign	Het
Gmppb	T	C	9: 107,927,773 (GRCm39)	Y176H	probably damaging	Het
Grap2	A	G	15: 80,507,947 (GRCm39)	T4A	possibly damaging	Het
Grm8	T	G	6: 28,125,635 (GRCm39)	N164H	possibly damaging	Het
Gstm3	G	A	3: 107,871,551 (GRCm39)	T210I	probably benign	Het
Gtf3c3	A	G	1: 54,463,166 (GRCm39)		probably null	Het
Hmcn2	A	G	2: 31,242,897 (GRCm39)		probably null	Het
Icam2	A	G	11: 106,271,648 (GRCm39)	L94P	probably damaging	Het
Iqcm	C	A	8: 76,396,021 (GRCm39)	T188K	possibly damaging	Het
Jarid2	T	A	13: 45,056,307 (GRCm39)	N365K	probably benign	Het
Kank4	A	G	4: 98,668,370 (GRCm39)	S26P	probably damaging	Het
Lgr4	A	G	2: 109,838,542 (GRCm39)	K498E	probably benign	Het
Meltf	A	G	16: 31,703,816 (GRCm39)	H181R	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nf1	A	G	11: 79,450,347 (GRCm39)	D511G	probably null	Het
Nhlrc3	A	G	3: 53,366,052 (GRCm39)	V147A	possibly damaging	Het
Nrap	C	T	19: 56,310,211 (GRCm39)	D1595N	probably damaging	Het
Or1e16	T	C	11: 73,286,776 (GRCm39)	Q24R	probably benign	Het
Or5p4	A	T	7: 107,680,378 (GRCm39)	I126F	probably damaging	Het
Or6c212	T	A	10: 129,558,918 (GRCm39)	D165V	possibly damaging	Het
Or6n2	T	A	1: 173,897,474 (GRCm39)	N203K	probably damaging	Het
Pak3	G	A	X: 142,492,727 (GRCm39)	V87I	probably damaging	Het
Pgm2l1	T	C	7: 99,901,474 (GRCm39)	V121A	probably benign	Het
Phf19	A	G	2: 34,789,670 (GRCm39)	L350P	probably damaging	Het
Phf8	T	C	X: 150,355,572 (GRCm39)	S512P	possibly damaging	Het
Phkb	G	T	8: 86,648,858 (GRCm39)	E225*	probably null	Het
Pif1	T	A	9: 65,495,588 (GRCm39)	V166E	probably damaging	Het
Plaa	T	C	4: 94,458,125 (GRCm39)	D615G	probably damaging	Het
Prpf4b	T	C	13: 35,067,665 (GRCm39)		probably benign	Het
Rxra	T	C	2: 27,646,272 (GRCm39)	C374R	probably damaging	Het
Septin3	T	C	15: 82,170,630 (GRCm39)		probably benign	Het
Skint4	G	T	4: 111,975,378 (GRCm39)	V113L	probably damaging	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Slc22a15	C	T	3: 101,804,590 (GRCm39)	G145D	probably damaging	Het
Slc28a1	A	T	7: 80,775,969 (GRCm39)	I222F	probably damaging	Het
Slc43a2	T	C	11: 75,454,424 (GRCm39)	L323P	probably benign	Het
Sorbs3	A	G	14: 70,436,800 (GRCm39)		probably benign	Het
Spink10	C	T	18: 62,786,485 (GRCm39)		probably benign	Het
Suclg2	A	T	6: 95,474,649 (GRCm39)	I372N	probably damaging	Het
Sun1	C	A	5: 139,211,117 (GRCm39)	C164*	probably null	Het
Tax1bp1	T	C	6: 52,719,770 (GRCm39)	F453L	probably benign	Het
Tmem54	A	G	4: 129,002,013 (GRCm39)	N9S	probably benign	Het
Tmx4	A	G	2: 134,462,497 (GRCm39)	W145R	probably damaging	Het
Top1	A	G	2: 160,544,688 (GRCm39)	H268R	probably damaging	Het
Ttn	A	G	2: 76,641,075 (GRCm39)	L13598P	probably damaging	Het
Vmn1r40	A	G	6: 89,691,991 (GRCm39)	I269M	probably benign	Het
Wdr7	G	T	18: 63,853,907 (GRCm39)	R80L	probably benign	Het
Zap70	A	T	1: 36,810,223 (GRCm39)	Q111L	possibly damaging	Het
Zfp808	T	A	13: 62,319,897 (GRCm39)	H375Q	probably damaging	Het
Zkscan2	A	T	7: 123,094,365 (GRCm39)		probably benign	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
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
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'- TTCAACAAGCTGGGCTCAG -3'
(R):5'- AAGCACATGACATGACTCAGG -3'

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

Posted On

2015-04-02