Mutagenetix > Incidental Mutation

Incidental Mutation 'R1118:Pgc'

97637

Institutional Source

Beutler Lab

Gene Symbol

Pgc

Ensembl Gene

ENSMUSG00000023987

Gene Name

progastricsin (pepsinogen C)

Synonyms

Upg-1, 2210410L06Rik, Upg1

MMRRC Submission

039191-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R1118 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48037767-48045403 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 48039828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024782] [ENSMUST00000144955]

AlphaFold

Q9D7R7

Predicted Effect

probably null
Transcript: ENSMUST00000024782

SMART Domains

Protein: ENSMUSP00000024782
Gene: ENSMUSG00000023987

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:A1_Propeptide	18	46	2.1e-17	PFAM
Pfam:Asp	75	391	6.3e-118	PFAM
Pfam:TAXi_N	76	232	7.2e-13	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000144955

SMART Domains

Protein: ENSMUSP00000123459
Gene: ENSMUSG00000023987

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:A1_Propeptide	18	46	1.5e-18	PFAM
Pfam:Asp	63	143	1.4e-19	PFAM

Meta Mutation Damage Score

0.9485

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 94.3%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an aspartic proteinase that belongs to the peptidase family A1. The encoded protein is a digestive enzyme that is produced in the stomach and constitutes a major component of the gastric mucosa. This protein is also secreted into the serum. This protein is synthesized as an inactive zymogen that includes a highly basic prosegment. This enzyme is converted into its active mature form at low pH by sequential cleavage of the prosegment that is carried out by the enzyme itself. Polymorphisms in this gene are associated with susceptibility to gastric cancers. Serum levels of this enzyme are used as a biomarker for certain gastric diseases including Helicobacter pylori related gastritis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcdd1	A	G	18: 63,085,095 (GRCm39)	T431A	probably benign	Het
Bcan	T	A	3: 87,896,534 (GRCm39)	I721F	probably damaging	Het
Card10	T	C	15: 78,686,643 (GRCm39)	D58G	possibly damaging	Het
Cd200r2	A	G	16: 44,729,969 (GRCm39)	N171S	probably damaging	Het
Celsr1	T	C	15: 85,916,248 (GRCm39)	D575G	probably damaging	Het
Ces1f	A	G	8: 93,993,870 (GRCm39)		probably benign	Het
Cped1	A	T	6: 22,237,698 (GRCm39)	H938L	probably benign	Het
Creld1	A	G	6: 113,468,656 (GRCm39)	D259G	probably benign	Het
Cubn	T	C	2: 13,341,053 (GRCm39)	I2223V	possibly damaging	Het
Dop1a	A	G	9: 86,397,459 (GRCm39)	D921G	probably damaging	Het
Dusp7	T	C	9: 106,250,849 (GRCm39)	S325P	possibly damaging	Het
Fat4	A	T	3: 39,037,091 (GRCm39)	D3581V	possibly damaging	Het
Fhl3	T	C	4: 124,599,584 (GRCm39)		probably null	Het
Gap43	T	C	16: 42,112,167 (GRCm39)	E198G	probably benign	Het
Garin4	G	A	1: 190,896,682 (GRCm39)		probably benign	Het
Grina	T	C	15: 76,132,779 (GRCm39)	F182S	probably damaging	Het
Gsk3b	T	C	16: 38,028,346 (GRCm39)		probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Haus6	A	G	4: 86,503,563 (GRCm39)		probably null	Het
Hmcn1	C	T	1: 150,494,679 (GRCm39)	A4137T	possibly damaging	Het
Itih4	C	A	14: 30,618,124 (GRCm39)		probably benign	Het
Itprid1	T	C	6: 55,866,155 (GRCm39)	F183L	probably damaging	Het
Kif22	A	G	7: 126,631,916 (GRCm39)	S384P	probably benign	Het
Lbr	A	C	1: 181,648,233 (GRCm39)		probably benign	Het
Mei1	G	A	15: 82,000,068 (GRCm39)		probably benign	Het
Misp	T	C	10: 79,662,969 (GRCm39)	V462A	probably benign	Het
Mrgpra3	A	C	7: 47,239,039 (GRCm39)	L296V	possibly damaging	Het
Ndufa9	A	T	6: 126,799,031 (GRCm39)	L362Q	probably damaging	Het
Nlrp9c	A	T	7: 26,083,862 (GRCm39)	D572E	probably benign	Het
Or4f14	T	A	2: 111,743,222 (GRCm39)	T18S	probably benign	Het
Otud4	C	T	8: 80,379,980 (GRCm39)		probably benign	Het
P4ha3	T	C	7: 99,962,535 (GRCm39)	I431T	probably damaging	Het
Pcdhb15	T	A	18: 37,606,815 (GRCm39)	F16I	probably benign	Het
Pcnp	A	G	16: 55,844,754 (GRCm39)	S49P	probably damaging	Het
Pdxdc1	T	A	16: 13,697,278 (GRCm39)		probably benign	Het
Phf11a	T	C	14: 59,521,778 (GRCm39)	D131G	probably benign	Het
Prdm2	G	A	4: 142,858,953 (GRCm39)	H1446Y	possibly damaging	Het
Rad54b	T	C	4: 11,563,352 (GRCm39)	S4P	probably damaging	Het
Slc52a2	T	C	15: 76,423,808 (GRCm39)		probably benign	Het
Slc9a4	G	A	1: 40,623,490 (GRCm39)		probably benign	Het
Smad4	T	C	18: 73,773,333 (GRCm39)	D551G	probably benign	Het
Smg7	A	T	1: 152,742,326 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sspo	A	G	6: 48,436,352 (GRCm39)	Y1234C	probably damaging	Het
Stab2	A	T	10: 86,721,582 (GRCm39)		probably null	Het
Stk36	A	G	1: 74,671,925 (GRCm39)	E875G	probably benign	Het
Stmn4	T	G	14: 66,591,844 (GRCm39)		probably benign	Het
Tagln3	C	A	16: 45,544,635 (GRCm39)	R12L	probably damaging	Het
Tex14	A	T	11: 87,413,343 (GRCm39)	R1031S	probably benign	Het
Tia1	G	A	6: 86,396,091 (GRCm39)	V96I	probably benign	Het
Ticrr	C	T	7: 79,343,701 (GRCm39)	P1189S	probably benign	Het
Tnxb	G	A	17: 34,904,017 (GRCm39)	V1053M	probably damaging	Het
Tpp2	T	C	1: 44,031,556 (GRCm39)		probably null	Het
Trpm7	A	G	2: 126,664,406 (GRCm39)	M991T	possibly damaging	Het
Ttc3	T	A	16: 94,217,127 (GRCm39)		probably benign	Het
Vcan	G	A	13: 89,853,782 (GRCm39)	P393S	probably damaging	Het
Vmn2r107	G	A	17: 20,576,860 (GRCm39)	R286Q	probably benign	Het
Wdr87-ps	G	A	7: 29,233,669 (GRCm39)		noncoding transcript	Het
Wrap73	A	T	4: 154,236,884 (GRCm39)		probably null	Het
Zfp958	A	T	8: 4,676,169 (GRCm39)	N46Y	possibly damaging	Het

Other mutations in Pgc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Pgc	APN	17	48,041,591 (GRCm39)	missense	probably benign	0.09
IGL01410:Pgc	APN	17	48,045,165 (GRCm39)	missense	probably damaging	0.98
IGL01647:Pgc	APN	17	48,043,329 (GRCm39)	missense	probably damaging	1.00
IGL02141:Pgc	APN	17	48,037,856 (GRCm39)	missense	probably damaging	1.00
IGL02719:Pgc	APN	17	48,039,792 (GRCm39)	missense	probably damaging	0.98
PIT4469001:Pgc	UTSW	17	48,039,680 (GRCm39)	nonsense	probably null
R0736:Pgc	UTSW	17	48,039,705 (GRCm39)	missense	probably damaging	1.00
R1669:Pgc	UTSW	17	48,044,715 (GRCm39)	missense	probably damaging	1.00
R2162:Pgc	UTSW	17	48,040,236 (GRCm39)	missense	probably null	0.96
R3831:Pgc	UTSW	17	48,040,236 (GRCm39)	missense	probably null	0.96
R3833:Pgc	UTSW	17	48,040,236 (GRCm39)	missense	probably null	0.96
R4454:Pgc	UTSW	17	48,043,335 (GRCm39)	missense	probably benign	0.00
R4908:Pgc	UTSW	17	48,039,819 (GRCm39)	missense	probably damaging	0.96
R5544:Pgc	UTSW	17	48,043,429 (GRCm39)	missense	probably benign	0.00
R6829:Pgc	UTSW	17	48,043,706 (GRCm39)	splice site	probably null
R7042:Pgc	UTSW	17	48,044,745 (GRCm39)	missense	probably benign	0.00
R7508:Pgc	UTSW	17	48,045,111 (GRCm39)	missense	probably benign	0.00
R8022:Pgc	UTSW	17	48,039,701 (GRCm39)	missense	probably benign	0.00
R9028:Pgc	UTSW	17	48,043,983 (GRCm39)	missense	possibly damaging	0.51
R9074:Pgc	UTSW	17	48,043,351 (GRCm39)	missense	probably damaging	0.98
Z1176:Pgc	UTSW	17	48,039,793 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCCCTGGGCAGCCTTTTATGTG -3'
(R):5'- GGCCCAAGTCTTCCCTCGAAAC -3'

Sequencing Primer
(F):5'- tggaaggagaaagggaagaaag -3'
(R):5'- CAACGGATGCTCAGTCTGTG -3'

Posted On

2014-01-05