Mutagenetix > Incidental Mutation

Incidental Mutation 'R3833:Pgc'

275508

Institutional Source

Beutler Lab

Gene Symbol

Pgc

Ensembl Gene

ENSMUSG00000023987

Gene Name

progastricsin (pepsinogen C)

Synonyms

Upg-1, 2210410L06Rik, Upg1

MMRRC Submission

040888-MU

Accession Numbers

Essential gene?

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

Stock #

R3833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48037767-48045403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 48040236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 93 (F93L)

Ref Sequence

ENSEMBL: ENSMUSP00000024782 (fasta)

Gene Model

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

AlphaFold

Q9D7R7

Predicted Effect

probably null
Transcript: ENSMUST00000024782
AA Change: F93L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000024782
Gene: ENSMUSG00000023987
AA Change: F93L

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 benign
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

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.4%

Validation Efficiency

97% (70/72)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	G	A	9: 101,820,062 (GRCm39)	G161S	probably damaging	Het
Acp7	T	C	7: 28,314,519 (GRCm39)	D282G	probably benign	Het
Atp10d	T	A	5: 72,396,568 (GRCm39)	C258S	possibly damaging	Het
Atp6ap1	T	C	X: 73,340,813 (GRCm39)	I10T	possibly damaging	Het
Atp6v0d2	T	G	4: 19,922,395 (GRCm39)	N35H	probably damaging	Het
Bcat1	T	A	6: 144,955,834 (GRCm39)	D349V	probably damaging	Het
Cacnb2	A	T	2: 14,986,236 (GRCm39)	I338F	probably damaging	Het
Ccn6	T	C	10: 39,030,945 (GRCm39)	K193E	probably benign	Het
Ccr1	T	C	9: 123,764,324 (GRCm39)	T69A	possibly damaging	Het
Cenpe	T	G	3: 134,928,083 (GRCm39)		probably benign	Het
Cps1	G	A	1: 67,178,946 (GRCm39)	G53R	probably damaging	Het
Cstb	T	C	10: 78,263,184 (GRCm39)	F70L	probably benign	Het
Cyb5d2	G	T	11: 72,686,349 (GRCm39)	S80R	possibly damaging	Het
Cyfip2	T	C	11: 46,152,333 (GRCm39)	D485G	probably benign	Het
Cyp27b1	G	T	10: 126,886,929 (GRCm39)	V382L	probably damaging	Het
Cyp8b1	C	A	9: 121,745,109 (GRCm39)	Q74H	probably benign	Het
Dennd2a	G	A	6: 39,483,651 (GRCm39)	P403L	probably damaging	Het
Dennd2a	G	T	6: 39,483,657 (GRCm39)	S401Y	probably damaging	Het
Dnaaf5	T	C	5: 139,167,320 (GRCm39)	V447A	possibly damaging	Het
Dpp9	A	T	17: 56,506,113 (GRCm39)	F429I	possibly damaging	Het
Gcn1	A	T	5: 115,730,191 (GRCm39)	Q835L	probably benign	Het
Gtf2b	T	A	3: 142,477,153 (GRCm39)	D8E	probably benign	Het
Hao1	A	T	2: 134,364,925 (GRCm39)	V234D	probably damaging	Het
Hephl1	T	C	9: 14,981,044 (GRCm39)	E796G	probably damaging	Het
Herc4	A	G	10: 63,081,739 (GRCm39)	I21V	probably benign	Het
Htt	T	A	5: 34,979,062 (GRCm39)	V815D	probably benign	Het
Iglv2	A	T	16: 19,079,593 (GRCm39)	M1K	probably null	Het
Igsf8	G	T	1: 172,145,837 (GRCm39)	A315S	probably benign	Het
Il1a	T	C	2: 129,148,599 (GRCm39)	D37G	possibly damaging	Het
Iqcb1	T	A	16: 36,652,276 (GRCm39)	C62*	probably null	Het
Itgad	A	T	7: 127,785,405 (GRCm39)	T381S	probably damaging	Het
Itpkb	T	C	1: 180,161,260 (GRCm39)	V462A	probably benign	Het
Kalrn	T	A	16: 33,860,259 (GRCm39)	R199*	probably null	Het
Kif24	G	T	4: 41,395,064 (GRCm39)	A603D	probably damaging	Het
Kif26b	GAAA	GAA	1: 178,744,181 (GRCm39)		probably null	Het
Klrc3	A	G	6: 129,620,181 (GRCm39)	L24P	probably damaging	Het
Lmnb1	A	C	18: 56,861,598 (GRCm39)	D163A	probably benign	Het
Lrrc9	T	C	12: 72,529,765 (GRCm39)	L912P	probably damaging	Het
Mageh1	A	T	X: 151,820,004 (GRCm39)	W111R	probably damaging	Het
Mapk7	A	G	11: 61,380,680 (GRCm39)	S641P	possibly damaging	Het
Mapt	A	T	11: 104,177,961 (GRCm39)	Q38L	possibly damaging	Het
Med12	C	A	X: 100,339,498 (GRCm39)	P2037Q	possibly damaging	Het
Med22	A	G	2: 26,800,379 (GRCm39)	S17P	probably damaging	Het
Mep1b	C	T	18: 21,219,296 (GRCm39)	T150I	possibly damaging	Het
Mroh1	C	T	15: 76,285,819 (GRCm39)	T71I	probably benign	Het
Nap1l3	A	G	X: 121,305,995 (GRCm39)	V241A	possibly damaging	Het
Pcdhga6	A	T	18: 37,841,479 (GRCm39)	N400Y	probably damaging	Het
Pdgfd	T	C	9: 6,359,762 (GRCm39)	S278P	probably damaging	Het
Pgap1	A	G	1: 54,596,624 (GRCm39)	M39T	probably damaging	Het
Phf14	A	G	6: 11,933,873 (GRCm39)		probably null	Het
Piezo2	A	G	18: 63,214,733 (GRCm39)		probably null	Het
Pja2	T	C	17: 64,616,397 (GRCm39)	D166G	probably benign	Het
Ppp1r12c	T	A	7: 4,485,785 (GRCm39)		probably benign	Het
Pus3	G	C	9: 35,477,874 (GRCm39)	G369R	probably benign	Het
Rhbdf2	T	A	11: 116,495,250 (GRCm39)	D251V	probably damaging	Het
Rsad1	A	G	11: 94,434,130 (GRCm39)	V366A	probably benign	Het
S100a10	T	C	3: 93,471,680 (GRCm39)	V88A	probably damaging	Het
Scarf1	T	C	11: 75,406,078 (GRCm39)	C121R	probably damaging	Het
Scn7a	A	G	2: 66,528,028 (GRCm39)	S821P	probably damaging	Het
Sco1	T	C	11: 66,944,605 (GRCm39)	V76A	probably damaging	Het
Sdsl	C	A	5: 120,601,183 (GRCm39)	A30S	probably benign	Het
Slc26a6	C	T	9: 108,733,117 (GRCm39)	T32I	possibly damaging	Het
Slit3	A	T	11: 35,579,509 (GRCm39)	S1229C	probably null	Het
Snd1	G	T	6: 28,531,403 (GRCm39)		probably benign	Het
Tdrd3	A	G	14: 87,718,221 (GRCm39)	T201A	probably damaging	Het
Tekt1	T	C	11: 72,245,645 (GRCm39)	N170S	probably benign	Het
Thsd1	T	G	8: 22,733,132 (GRCm39)	S60A	possibly damaging	Het
Tmem121b	C	T	6: 120,469,841 (GRCm39)	G292E	probably damaging	Het
Trim63	A	G	4: 134,048,507 (GRCm39)	N172S	probably benign	Het
Usp24	T	C	4: 106,219,209 (GRCm39)		probably null	Het
Zdhhc16	T	A	19: 41,926,553 (GRCm39)		probably null	Het
Zfp1010	T	C	2: 176,956,998 (GRCm39)	S167G	possibly damaging	Het
Zfp709	G	A	8: 72,642,906 (GRCm39)	V112M	probably benign	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
R1118:Pgc	UTSW	17	48,039,828 (GRCm39)	critical splice donor site	probably null
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
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'- CACAGACTGAGCATCCGTTG -3'
(R):5'- CAGCCTCTTGATGTGATTTGGAC -3'

Sequencing Primer
(F):5'- TTCGAGGGAAGACTTGGGCC -3'
(R):5'- TGGACATGTCATGTGACTACAGACC -3'

Posted On

2015-04-06