Mutagenetix > Incidental Mutations

Incidental Mutation 'R4568:Pga5'

341963

Institutional Source

Beutler Lab

Gene Symbol

Pga5

Ensembl Gene

ENSMUSG00000024738

Gene Name

pepsinogen 5, group I

Synonyms

1110035E17Rik, Pepf, pepsinogen A5

MMRRC Submission

041792-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R4568 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10668956-10678071 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10671852 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 235 (Y235H)

Ref Sequence

ENSEMBL: ENSMUSP00000025647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025647]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025647
AA Change: Y235H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025647
Gene: ENSMUSG00000024738
AA Change: Y235H

Domain	Start	End	E-Value	Type
Pfam:A1_Propeptide	16	44	1.1e-13	PFAM
Pfam:Asp	73	386	1.1e-112	PFAM
Pfam:TAXi_N	74	229	7.6e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225135

Meta Mutation Damage Score

0.6772

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	A	7: 119,563,517	W5R	probably benign	Het
Bik	T	C	15: 83,541,444		probably null	Het
Col6a1	A	T	10: 76,719,197		probably benign	Het
Crem	A	G	18: 3,299,175	I83T	probably damaging	Het
Csn1s1	G	A	5: 87,680,904	V276I	possibly damaging	Het
Ctnna3	C	T	10: 63,852,809	T344M	possibly damaging	Het
Dgcr8	G	A	16: 18,280,394	P378S	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Fam208a	A	T	14: 27,476,701		probably null	Het
Gpr139	C	T	7: 119,144,805	V186M	probably damaging	Het
Krba1	A	G	6: 48,409,723	T422A	probably damaging	Het
Lgals8	T	G	13: 12,453,373	Y125S	probably damaging	Het
Map4k1	G	A	7: 28,986,654	G107D	probably damaging	Het
Mfsd6	A	T	1: 52,663,289	Y599*	probably null	Het
Olfr1411	A	T	1: 92,597,391	M291L	probably benign	Het
Olfr412	A	G	11: 74,365,209	E180G	probably damaging	Het
Omt2b	T	A	9: 78,328,247		probably benign	Het
Phldb2	T	A	16: 45,777,718	K869*	probably null	Het
Pik3cb	T	C	9: 99,090,302	M268V	probably benign	Het
Pla2g4a	T	C	1: 149,842,226	D624G	probably benign	Het
Plxna4	T	A	6: 32,152,938	I1817F	probably damaging	Het
Psmg3	A	G	5: 139,826,249	I32T	probably damaging	Het
Ptpn4	T	C	1: 119,680,059	E757G	probably damaging	Het
Rasl2-9	AGG	A	7: 5,125,375		probably null	Het
Ripply3	T	A	16: 94,335,829	D116E	probably damaging	Het
Robo4	T	C	9: 37,404,822	V263A	possibly damaging	Het
Slc5a9	C	A	4: 111,891,744		probably null	Het
Spef2	T	C	15: 9,647,217	H1008R	probably damaging	Het
Stag1	T	C	9: 100,848,669	V379A	probably damaging	Het
Tbc1d9	A	G	8: 83,271,177	E1121G	probably benign	Het
Tpr	T	C	1: 150,392,959		probably benign	Het
Trpv6	G	T	6: 41,626,569	P206H	probably damaging	Het
Vmn2r63	T	C	7: 42,933,826		probably null	Het
Vmn2r65	C	T	7: 84,947,469	C126Y	probably damaging	Het

Other mutations in Pga5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01660:Pga5	APN	19	10675092	missense	probably damaging	1.00
IGL02037:Pga5	APN	19	10676701	missense	probably benign	0.01
IGL02069:Pga5	APN	19	10669399	missense	possibly damaging	0.76
IGL02197:Pga5	APN	19	10671913	splice site	probably benign
IGL02871:Pga5	APN	19	10671780	splice site	probably benign
R0238:Pga5	UTSW	19	10669453	missense	probably damaging	1.00
R0238:Pga5	UTSW	19	10669453	missense	probably damaging	1.00
R0239:Pga5	UTSW	19	10669453	missense	probably damaging	1.00
R0239:Pga5	UTSW	19	10669453	missense	probably damaging	1.00
R1573:Pga5	UTSW	19	10673837	missense	probably benign	0.13
R1941:Pga5	UTSW	19	10669456	splice site	probably null
R4354:Pga5	UTSW	19	10674826	critical splice donor site	probably null
R5119:Pga5	UTSW	19	10676689	missense	probably benign	0.00
R5738:Pga5	UTSW	19	10669660	missense	probably benign	0.05
R5864:Pga5	UTSW	19	10675149	missense	probably damaging	1.00
R6176:Pga5	UTSW	19	10671785	splice site	probably null
R6270:Pga5	UTSW	19	10674861	missense	probably benign
R6990:Pga5	UTSW	19	10669415	missense	probably benign	0.03
R8056:Pga5	UTSW	19	10676797	splice site	probably benign
R8348:Pga5	UTSW	19	10671809	missense	probably damaging	1.00
R8448:Pga5	UTSW	19	10671809	missense	probably damaging	1.00
R8510:Pga5	UTSW	19	10677944	missense	possibly damaging	0.73
Z1176:Pga5	UTSW	19	10669159	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGTCATATGTGGACATAGGTC -3'
(R):5'- TCCCTGCCCACGAATAATGG -3'

Sequencing Primer
(F):5'- CATAGGTCTATGTTACACCGTGTG -3'
(R):5'- CCACGAATAATGGGACTCCTAAGG -3'

Posted On

2015-09-24