Mutagenetix > Incidental Mutation

Incidental Mutation 'R5738:Pga5'

444652

Institutional Source

Beutler Lab

Gene Symbol

Pga5

Ensembl Gene

ENSMUSG00000024738

Gene Name

pepsinogen 5, group I

Synonyms

1110035E17Rik, Pepf, pepsinogen A5

MMRRC Submission

043350-MU

Accession Numbers

Essential gene?

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

Stock #

R5738 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10646321-10655435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10647024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 260 (N260K)

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: N260K

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000025647
Gene: ENSMUSG00000024738
AA Change: N260K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225135

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,571,917 (GRCm39)	D4826V	probably damaging	Het
Acoxl	G	A	2: 127,719,686 (GRCm39)	C149Y	probably benign	Het
Adamts3	G	T	5: 89,856,527 (GRCm39)	H349N	probably damaging	Het
Ap2b1	A	G	11: 83,227,256 (GRCm39)		probably null	Het
Ap3m2	T	C	8: 23,293,877 (GRCm39)	S58G	possibly damaging	Het
Bhmt2	A	T	13: 93,799,798 (GRCm39)	W213R	probably benign	Het
Cacna1h	T	G	17: 25,606,023 (GRCm39)	D1092A	probably damaging	Het
Cbfb	A	C	8: 105,929,193 (GRCm39)	Q170P	probably damaging	Het
Ccdc73	A	C	2: 104,761,331 (GRCm39)	K110N	possibly damaging	Het
Cep350	C	A	1: 155,741,824 (GRCm39)	R2149L	probably damaging	Het
Cog2	A	G	8: 125,272,777 (GRCm39)	T525A	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Fbxl5	A	G	5: 43,920,170 (GRCm39)	I251T	probably benign	Het
Fscn3	A	G	6: 28,430,030 (GRCm39)	K67E	possibly damaging	Het
Glmp	T	A	3: 88,233,445 (GRCm39)	N133K	probably benign	Het
Gpr179	T	C	11: 97,242,232 (GRCm39)	N204S	probably damaging	Het
Gtf2ird1	C	T	5: 134,412,672 (GRCm39)	R613Q	probably damaging	Het
Hepacam	A	G	9: 37,294,721 (GRCm39)	D285G	possibly damaging	Het
Hipk4	G	A	7: 27,227,841 (GRCm39)	V196M	probably damaging	Het
Hlx	A	T	1: 184,463,754 (GRCm39)		probably null	Het
Igf2r	A	T	17: 12,936,254 (GRCm39)	D597E	probably benign	Het
Ighm	T	C	12: 113,385,115 (GRCm39)	T282A	unknown	Het
Igsf9b	T	C	9: 27,239,826 (GRCm39)	C624R	probably damaging	Het
Ksr2	T	C	5: 117,886,864 (GRCm39)	V800A	probably damaging	Het
Lyn	A	T	4: 3,782,987 (GRCm39)	I386F	probably damaging	Het
Melk	A	G	4: 44,310,333 (GRCm39)	D102G	probably damaging	Het
Mettl1	G	T	10: 126,877,863 (GRCm39)	E4*	probably null	Het
Mybl2	C	T	2: 162,910,203 (GRCm39)	Q210*	probably null	Het
Naga	C	T	15: 82,219,054 (GRCm39)	W231*	probably null	Het
Or2y3	T	C	17: 38,393,347 (GRCm39)	Y174C	probably damaging	Het
Or4k2	C	T	14: 50,424,105 (GRCm39)	V190I	probably benign	Het
Or7g16	T	C	9: 18,727,125 (GRCm39)	N155S	possibly damaging	Het
Otud4	T	C	8: 80,400,090 (GRCm39)	S935P	probably benign	Het
P2rx7	C	T	5: 122,790,852 (GRCm39)	T63I	probably damaging	Het
Phka2	ACC	AC	X: 159,342,862 (GRCm39)		probably null	Het
Plch1	T	A	3: 63,681,076 (GRCm39)	R184W	probably damaging	Het
Ppm1b	T	C	17: 85,301,374 (GRCm39)	F85L	probably benign	Het
Prtg	T	A	9: 72,819,288 (GRCm39)	F1094I	probably benign	Het
Ralgds	G	A	2: 28,432,538 (GRCm39)		probably benign	Het
Rgs17	A	C	10: 5,783,140 (GRCm39)	V149G	probably damaging	Het
Rnf168	A	G	16: 32,101,192 (GRCm39)	E124G	probably damaging	Het
Sav1	T	C	12: 70,022,817 (GRCm39)	E245G	possibly damaging	Het
Slc25a19	T	C	11: 115,515,060 (GRCm39)	I33V	probably benign	Het
Sptbn1	T	C	11: 30,095,941 (GRCm39)	I318V	probably damaging	Het
Tas2r136	A	G	6: 132,754,707 (GRCm39)	L140P	probably damaging	Het
Tbc1d9	A	G	8: 83,997,655 (GRCm39)	I1071V	probably benign	Het
Tecta	G	T	9: 42,284,474 (GRCm39)	N870K	possibly damaging	Het
Tmem230	G	A	2: 132,086,048 (GRCm39)	P38L	possibly damaging	Het
Trpa1	G	T	1: 14,946,174 (GRCm39)	H986N	probably damaging	Het
Wdr41	A	T	13: 95,114,996 (GRCm39)	I24L	possibly damaging	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
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
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'- GTTAGTGCTGTGTGGAAAACCC -3'
(R):5'- ACTCTGTTACTGAAGGGCGG -3'

Sequencing Primer
(F):5'- TGGAAAACCCAGAGTGGCCC -3'
(R):5'- GTCAGACGTGTAAGGTCATCC -3'

Posted On

2016-11-21