Mutagenetix > Incidental Mutation

Incidental Mutation 'R6990:Pga5'

543220

Institutional Source

Beutler Lab

Gene Symbol

Pga5

Ensembl Gene

ENSMUSG00000024738

Gene Name

pepsinogen 5, group I

Synonyms

1110035E17Rik, Pepf, pepsinogen A5

MMRRC Submission

045096-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R6990 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10646321-10655435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10646779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 317 (D317E)

Ref Sequence

ENSEMBL: ENSMUSP00000025647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025647] [ENSMUST00000055115]

AlphaFold

Q9D106

Predicted Effect

probably benign
Transcript: ENSMUST00000025647
AA Change: D317E

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000025647
Gene: ENSMUSG00000024738
AA Change: D317E

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

probably benign
Transcript: ENSMUST00000055115

SMART Domains

Protein: ENSMUSP00000056958
Gene: ENSMUSG00000043789

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
EGF	70	98	2.2e1	SMART
EGF_CA	142	180	6.91e-9	SMART
EGF_CA	181	219	7.75e-12	SMART
EGF_CA	220	262	1.11e-12	SMART
low complexity region	294	312	N/A	INTRINSIC
low complexity region	335	353	N/A	INTRINSIC
VWC	378	432	2.91e-6	SMART
VWC	435	488	4.58e-4	SMART
VWC	493	551	2.06e-6	SMART
VWC	560	617	9.74e-8	SMART
VWC	621	676	1.35e-10	SMART
VWC	679	725	2.58e-1	SMART
low complexity region	761	772	N/A	INTRINSIC
low complexity region	889	903	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	G	10: 78,902,925 (GRCm39)	T464P	probably damaging	Het
Abca16	A	G	7: 120,126,950 (GRCm39)	I1214V	probably benign	Het
Arap2	A	G	5: 62,833,860 (GRCm39)	F869S	probably damaging	Het
Astn2	G	T	4: 65,910,540 (GRCm39)	H431N	possibly damaging	Het
Bap1	A	G	14: 30,977,608 (GRCm39)	T308A	probably benign	Het
Bcr	G	A	10: 74,966,868 (GRCm39)	E492K	possibly damaging	Het
Bltp3b	A	G	10: 89,641,979 (GRCm39)	D1050G	probably benign	Het
Camta1	A	G	4: 151,229,501 (GRCm39)	F444L	probably damaging	Het
Chd7	A	T	4: 8,844,525 (GRCm39)	T1545S	probably benign	Het
Dnmt1	A	T	9: 20,827,110 (GRCm39)	Y877*	probably null	Het
Fam13b	A	G	18: 34,630,500 (GRCm39)	V86A	possibly damaging	Het
Gm11562	T	A	11: 99,510,817 (GRCm39)	R128W	unknown	Het
Krt86	A	G	15: 101,371,714 (GRCm39)	I95V	probably benign	Het
Mroh2b	A	G	15: 4,942,284 (GRCm39)	T349A	possibly damaging	Het
Ms4a7	A	T	19: 11,310,605 (GRCm39)	L38Q	probably damaging	Het
Myo1h	T	C	5: 114,468,221 (GRCm39)	S339P	probably damaging	Het
Nf2	T	C	11: 4,749,944 (GRCm39)	I46V	probably benign	Het
Nr1h4	T	C	10: 89,290,792 (GRCm39)	D416G	probably benign	Het
Oga	G	A	19: 45,755,915 (GRCm39)	A576V	probably benign	Het
Or11l3	T	C	11: 58,516,284 (GRCm39)	E196G	probably damaging	Het
Or4p18	A	G	2: 88,232,639 (GRCm39)	M213T	probably benign	Het
Pde1c	C	G	6: 56,419,020 (GRCm39)	E87Q	possibly damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Pira2	T	A	7: 3,844,067 (GRCm39)	K568N	probably damaging	Het
Ppp2cb	A	G	8: 34,109,161 (GRCm39)	D290G	probably benign	Het
Sall4	T	C	2: 168,596,990 (GRCm39)	K617E	probably damaging	Het
Slc7a14	G	A	3: 31,277,728 (GRCm39)	P626S	possibly damaging	Het
Speer4b	A	T	5: 27,702,076 (GRCm39)	L228*	probably null	Het
Spns2	T	C	11: 72,380,447 (GRCm39)	T59A	probably benign	Het
Tbc1d5	A	T	17: 51,275,260 (GRCm39)	N78K	probably benign	Het
Tmem63a	T	C	1: 180,788,686 (GRCm39)	V341A	probably benign	Het
Trpt1	A	G	19: 6,975,683 (GRCm39)	T146A	probably benign	Het
Tyrp1	T	C	4: 80,753,674 (GRCm39)	C122R	probably damaging	Het
Uchl1	A	G	5: 66,839,818 (GRCm39)	E120G	possibly damaging	Het
Ucn3	C	T	13: 3,991,295 (GRCm39)	R119Q	possibly damaging	Het
Vmn2r2	T	G	3: 64,024,608 (GRCm39)	I658L	probably benign	Het
Vmn2r96	T	A	17: 18,804,082 (GRCm39)	V444E	probably benign	Het
Wdr54	A	C	6: 83,132,629 (GRCm39)		probably null	Het
Xcr1	A	G	9: 123,685,300 (GRCm39)	L154P	probably benign	Het
Zbtb26	T	C	2: 37,326,557 (GRCm39)	K160E	probably benign	Het
Zfp157	T	G	5: 138,454,772 (GRCm39)	Y323*	probably null	Het
Zfp850	A	T	7: 27,689,801 (GRCm39)	F136I	probably benign	Het

Other mutations in Pga5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01660:Pga5	APN	19	10,652,456 (GRCm39)	missense	probably damaging	1.00
IGL02037:Pga5	APN	19	10,654,065 (GRCm39)	missense	probably benign	0.01
IGL02069:Pga5	APN	19	10,646,763 (GRCm39)	missense	possibly damaging	0.76
IGL02197:Pga5	APN	19	10,649,277 (GRCm39)	splice site	probably benign
IGL02871:Pga5	APN	19	10,649,144 (GRCm39)	splice site	probably benign
R0238:Pga5	UTSW	19	10,646,817 (GRCm39)	missense	probably damaging	1.00
R0238:Pga5	UTSW	19	10,646,817 (GRCm39)	missense	probably damaging	1.00
R0239:Pga5	UTSW	19	10,646,817 (GRCm39)	missense	probably damaging	1.00
R0239:Pga5	UTSW	19	10,646,817 (GRCm39)	missense	probably damaging	1.00
R1573:Pga5	UTSW	19	10,651,201 (GRCm39)	missense	probably benign	0.13
R1941:Pga5	UTSW	19	10,646,820 (GRCm39)	splice site	probably null
R4354:Pga5	UTSW	19	10,652,190 (GRCm39)	critical splice donor site	probably null
R4568:Pga5	UTSW	19	10,649,216 (GRCm39)	missense	probably damaging	1.00
R5119:Pga5	UTSW	19	10,654,053 (GRCm39)	missense	probably benign	0.00
R5738:Pga5	UTSW	19	10,647,024 (GRCm39)	missense	probably benign	0.05
R5864:Pga5	UTSW	19	10,652,513 (GRCm39)	missense	probably damaging	1.00
R6176:Pga5	UTSW	19	10,649,149 (GRCm39)	splice site	probably null
R6270:Pga5	UTSW	19	10,652,225 (GRCm39)	missense	probably benign
R8056:Pga5	UTSW	19	10,654,161 (GRCm39)	splice site	probably benign
R8348:Pga5	UTSW	19	10,649,173 (GRCm39)	missense	probably damaging	1.00
R8448:Pga5	UTSW	19	10,649,173 (GRCm39)	missense	probably damaging	1.00
R8510:Pga5	UTSW	19	10,655,308 (GRCm39)	missense	possibly damaging	0.73
R9352:Pga5	UTSW	19	10,646,897 (GRCm39)	missense	probably damaging	1.00
R9382:Pga5	UTSW	19	10,646,897 (GRCm39)	missense	probably damaging	1.00
R9383:Pga5	UTSW	19	10,646,897 (GRCm39)	missense	probably damaging	1.00
Z1176:Pga5	UTSW	19	10,646,523 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATGCCCTCCTCAAAGTTG -3'
(R):5'- ATTATGGACACAGGGACCTCC -3'

Sequencing Primer
(F):5'- GCTCCTGCAATTGTGTGACCG -3'
(R):5'- ACAGGGACCTCCTTGCTGAC -3'

Posted On

2018-11-28