Mutagenetix > Incidental Mutation

Incidental Mutation 'R9382:Pga5'

710124

Institutional Source

Beutler Lab

Gene Symbol

Pga5

Ensembl Gene

ENSMUSG00000024738

Gene Name

pepsinogen 5, group I

Synonyms

1110035E17Rik, Pepf, pepsinogen A5

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R9382 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10646321-10655435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10646897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 303 (G303S)

Ref Sequence

ENSEMBL: ENSMUSP00000025647 (fasta)

Gene Model

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

AlphaFold

Q9D106

Predicted Effect

probably damaging
Transcript: ENSMUST00000025647
AA Change: G303S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000025647
Gene: ENSMUSG00000024738
AA Change: G303S

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,870,711 (GRCm39)	S147L	probably benign	Het
Abraxas1	A	G	5: 100,957,649 (GRCm39)	V190A	probably benign	Het
Aoc1l2	A	T	6: 48,907,298 (GRCm39)	K99N	probably benign	Het
Aox1	T	A	1: 58,104,501 (GRCm39)	H559Q	possibly damaging	Het
Arhgap31	C	T	16: 38,422,988 (GRCm39)	G1026D	probably benign	Het
C1ra	T	C	6: 124,490,819 (GRCm39)	F71L	probably benign	Het
C530025M09Rik	T	C	2: 149,672,640 (GRCm39)	H165R	unknown	Het
Celf2	A	T	2: 6,726,404 (GRCm39)	M43K	probably damaging	Het
Celsr3	T	C	9: 108,706,961 (GRCm39)	V1148A	possibly damaging	Het
Cmya5	T	G	13: 93,229,884 (GRCm39)	K1735Q	probably benign	Het
Cntln	A	C	4: 84,968,318 (GRCm39)	M846L	probably benign	Het
Cntn5	T	C	9: 9,673,817 (GRCm39)	T762A	probably benign	Het
Col11a1	T	A	3: 113,899,046 (GRCm39)	L525Q	unknown	Het
Col12a1	T	C	9: 79,589,364 (GRCm39)	T1064A	probably benign	Het
Cyc1	T	C	15: 76,229,273 (GRCm39)	V211A	possibly damaging	Het
Ddx56	A	G	11: 6,215,516 (GRCm39)	S296P	probably damaging	Het
Deptor	A	T	15: 54,975,798 (GRCm39)		probably benign	Het
Ezh1	C	T	11: 101,094,265 (GRCm39)	R409H	possibly damaging	Het
Fam228b	T	A	12: 4,798,147 (GRCm39)	E190V	probably damaging	Het
Fkbp15	A	T	4: 62,237,210 (GRCm39)	L635H	probably damaging	Het
Frem1	G	A	4: 82,901,622 (GRCm39)	L969F	possibly damaging	Het
Gabrg2	T	C	11: 41,858,433 (GRCm39)	R232G	probably benign	Het
Gpr26	G	A	7: 131,568,963 (GRCm39)	D103N	probably damaging	Het
Grid2ip	T	G	5: 143,361,103 (GRCm39)		probably null	Het
Ints7	T	C	1: 191,351,793 (GRCm39)	V834A	probably damaging	Het
Kcnh7	T	A	2: 62,667,612 (GRCm39)	H309L	probably benign	Het
Mael	T	C	1: 166,053,282 (GRCm39)	E241G	probably damaging	Het
Neb	T	A	2: 52,122,277 (GRCm39)	E584V		Het
Nexn	C	T	3: 151,959,401 (GRCm39)	V23M	probably damaging	Het
Npas1	T	C	7: 16,190,231 (GRCm39)		probably null	Het
Or51f1	T	C	7: 102,506,014 (GRCm39)	I158M	probably benign	Het
Pcdh17	T	G	14: 84,685,522 (GRCm39)	V663G	probably damaging	Het
Poln	T	A	5: 34,164,842 (GRCm39)	K844N	probably damaging	Het
Prkar1b	C	T	5: 139,036,442 (GRCm39)	D227N	probably damaging	Het
Proc	T	A	18: 32,256,336 (GRCm39)	I444F	probably damaging	Het
Ptprn	G	T	1: 75,229,135 (GRCm39)	H791N	probably benign	Het
Ror1	T	C	4: 100,191,709 (GRCm39)	S160P	probably benign	Het
Satb2	T	A	1: 56,870,797 (GRCm39)		probably null	Het
Slc43a3	C	T	2: 84,780,771 (GRCm39)	A332V	probably benign	Het
Sp100	G	A	1: 85,627,336 (GRCm39)	V410M	probably damaging	Het
Srgap2	T	C	1: 131,217,346 (GRCm39)	T989A	probably benign	Het
Ssc5d	T	C	7: 4,930,283 (GRCm39)		probably null	Het
Tll2	A	G	19: 41,116,997 (GRCm39)	Y273H	probably benign	Het
Tub	T	C	7: 108,626,211 (GRCm39)	V295A	possibly damaging	Het
Unc13b	T	A	4: 43,172,512 (GRCm39)	D1113E	unknown	Het
Usp9y	C	A	Y: 1,364,776 (GRCm39)	M1012I	probably benign	Het
Vmn1r238	A	G	18: 3,122,676 (GRCm39)	V246A	probably damaging	Het
Vmn2r88	T	G	14: 51,656,197 (GRCm39)	V802G		Het
Wnt7b	T	C	15: 85,443,175 (GRCm39)	Q76R	probably damaging	Het
Zan	T	C	5: 137,389,917 (GRCm39)	R4852G	unknown	Het
Zfp618	A	T	4: 63,051,258 (GRCm39)	T680S	probably damaging	Het
Zfp784	T	A	7: 5,041,338 (GRCm39)	D25V	unknown	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
R6990:Pga5	UTSW	19	10,646,779 (GRCm39)	missense	probably benign	0.03
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
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'- CCTTTCGGATGTAGGCACTG -3'
(R):5'- GCTGACTGGCTGTTTAAAGTC -3'

Sequencing Primer
(F):5'- ATGTAGGCACTGGCTGGC -3'
(R):5'- ACTGTATGGTAATCCTGGTGTCCAC -3'

Posted On

2022-04-18