Mutagenetix > Incidental Mutation

Incidental Mutation 'R1113:Prss47'

96956

Institutional Source

Beutler Lab

Gene Symbol

Prss47

Ensembl Gene

ENSMUSG00000090658

Gene Name

serine protease 47

Synonyms

Gm274, LOC218304

MMRRC Submission

039186-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R1113 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65192420-65200574 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65199630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 83 (H83R)

Ref Sequence

ENSEMBL: ENSMUSP00000145196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000182457] [ENSMUST00000203968] [ENSMUST00000222769]

AlphaFold

A0A0N4SVQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000168201
AA Change: H11R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129006
Gene: ENSMUSG00000090658
AA Change: H11R

Domain	Start	End	E-Value	Type
Tryp_SPc	26	264	1.5e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182457
AA Change: H11R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145271
Gene: ENSMUSG00000090658
AA Change: H11R

Domain	Start	End	E-Value	Type
Tryp_SPc	26	264	1.5e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203968
AA Change: H83R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000145196
Gene: ENSMUSG00000090658
AA Change: H83R

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Tryp_SPc	98	336	3.13e-76	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220767

Predicted Effect

probably benign
Transcript: ENSMUST00000222769

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 93.0%
20x: 82.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	G	A	19: 8,982,984 (GRCm39)	E1423K	probably benign	Het
Angpt2	C	T	8: 18,742,134 (GRCm39)	W474*	probably null	Het
Cln6	A	G	9: 62,758,143 (GRCm39)	T301A	probably damaging	Het
G6pc2	A	T	2: 69,050,570 (GRCm39)	D65V	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Map3k6	T	C	4: 132,973,126 (GRCm39)	S395P	probably damaging	Het
Myo6	G	A	9: 80,152,996 (GRCm39)	V210I	probably damaging	Het
Otoa	C	A	7: 120,724,666 (GRCm39)	C448*	probably null	Het
Pate6	T	C	9: 35,700,385 (GRCm39)	T67A	probably benign	Het
Prkcg	G	C	7: 3,377,622 (GRCm39)	K525N	probably damaging	Het
Pros1	G	A	16: 62,734,228 (GRCm39)	D345N	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Tekt2	A	T	4: 126,218,711 (GRCm39)	L14H	probably damaging	Het
Tnpo2	T	C	8: 85,781,982 (GRCm39)	F857S	probably damaging	Het
Try4	G	T	6: 41,282,308 (GRCm39)	Q209H	possibly damaging	Het
Wdfy4	G	A	14: 32,693,695 (GRCm39)	S2710L	possibly damaging	Het

Other mutations in Prss47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0900:Prss47	UTSW	13	65,197,208 (GRCm39)	missense	possibly damaging	0.72
R1308:Prss47	UTSW	13	65,199,630 (GRCm39)	missense	probably benign	0.00
R1472:Prss47	UTSW	13	65,197,103 (GRCm39)	missense	probably damaging	1.00
R1561:Prss47	UTSW	13	65,194,062 (GRCm39)	missense	probably damaging	0.97
R2021:Prss47	UTSW	13	65,199,591 (GRCm39)	missense	probably benign	0.08
R2165:Prss47	UTSW	13	65,192,887 (GRCm39)	missense	probably damaging	0.98
R5655:Prss47	UTSW	13	65,192,857 (GRCm39)	missense	probably damaging	1.00
R6044:Prss47	UTSW	13	65,197,120 (GRCm39)	nonsense	probably null
R6395:Prss47	UTSW	13	65,197,116 (GRCm39)	missense	probably benign	0.05
R7196:Prss47	UTSW	13	65,192,640 (GRCm39)	missense	probably benign	0.08
R7250:Prss47	UTSW	13	65,200,355 (GRCm39)	missense	probably benign	0.10
R7394:Prss47	UTSW	13	65,192,807 (GRCm39)	missense	probably benign	0.11
R7443:Prss47	UTSW	13	65,197,303 (GRCm39)	missense	probably damaging	1.00
Z1177:Prss47	UTSW	13	65,199,577 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGGGTGTCAATGAGGACAGCTC -3'
(R):5'- CCCTTGCCAGGACTGCTTAAAGATG -3'

Sequencing Primer
(F):5'- GGACAGCTCCACAGAGATGC -3'
(R):5'- CTTTTCATGTCAGTGAAAGCAGAGAC -3'

Posted On

2014-01-05