Mutagenetix > Incidental Mutation

Incidental Mutation 'R5852:Prss29'

454735

Institutional Source

Beutler Lab

Gene Symbol

Prss29

Ensembl Gene

ENSMUSG00000034039

Gene Name

serine protease 29

Synonyms

mISP-2, Isp2

MMRRC Submission

043227-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R5852 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25537628-25541658 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25541408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 256 (D256G)

Ref Sequence

ENSEMBL: ENSMUSP00000024993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024993]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024993
AA Change: D256G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000024993
Gene: ENSMUSG00000034039
AA Change: D256G

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	30	271	7.11e-89	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182525

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,891,139 (GRCm39)	I453F	probably damaging	Het
Anpep	C	T	7: 79,488,720 (GRCm39)	W402*	probably null	Het
Apcdd1	T	C	18: 63,070,134 (GRCm39)	S134P	probably damaging	Het
Ccdc154	T	C	17: 25,382,183 (GRCm39)	V34A	probably benign	Het
Cntn3	A	T	6: 102,397,377 (GRCm39)	N65K	probably damaging	Het
Cntn6	G	T	6: 104,812,706 (GRCm39)	V663F	probably damaging	Het
Crisp3	A	T	17: 40,536,711 (GRCm39)	C201*	probably null	Het
Dnhd1	T	A	7: 105,344,955 (GRCm39)	W2100R	probably damaging	Het
Dync2h1	A	T	9: 7,011,290 (GRCm39)	S3634R	probably benign	Het
Entrep2	T	A	7: 64,425,579 (GRCm39)	H171L	probably damaging	Het
Gucy1a2	T	C	9: 3,865,460 (GRCm39)	F645L	probably damaging	Het
Hs6st3	G	T	14: 120,106,738 (GRCm39)	R382L	probably damaging	Het
Il27	T	A	7: 126,191,786 (GRCm39)	T89S	possibly damaging	Het
Iqgap2	C	T	13: 95,811,880 (GRCm39)	R707H	probably damaging	Het
Klhl23	T	A	2: 69,654,613 (GRCm39)	I161N	probably benign	Het
Lrrk2	G	A	15: 91,640,152 (GRCm39)	E1566K	probably damaging	Het
Mia3	A	G	1: 183,113,713 (GRCm39)	V437A	probably benign	Het
Ncoa6	G	T	2: 155,247,419 (GRCm39)	H1962N	possibly damaging	Het
Nox4	C	T	7: 86,988,172 (GRCm39)	T361I	probably damaging	Het
Pappa2	T	C	1: 158,544,584 (GRCm39)	Y1748C	probably damaging	Het
Phyhip	T	C	14: 70,699,369 (GRCm39)		probably null	Het
Pkhd1	A	G	1: 20,447,632 (GRCm39)	F2254L	probably benign	Het
Plxnb1	A	G	9: 108,935,518 (GRCm39)	Y1018C	probably damaging	Het
Pnoc	C	T	14: 65,648,671 (GRCm39)	V8I	probably benign	Het
Scrn3	T	C	2: 73,161,349 (GRCm39)	F312L	probably damaging	Het
Sephs1	A	G	2: 4,904,339 (GRCm39)	E239G	possibly damaging	Het
Tti1	A	G	2: 157,842,593 (GRCm39)	L812P	probably damaging	Het
Wdr1	A	G	5: 38,694,518 (GRCm39)	S62P	probably benign	Het
Zfp106	A	G	2: 120,346,487 (GRCm39)	S1659P	probably damaging	Het
Zng1	A	G	19: 24,932,769 (GRCm39)	V88A	possibly damaging	Het

Other mutations in Prss29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Prss29	APN	17	25,541,107 (GRCm39)	missense	probably benign	0.05
IGL01619:Prss29	APN	17	25,540,113 (GRCm39)	critical splice donor site	probably null
IGL01670:Prss29	APN	17	25,541,437 (GRCm39)	missense	probably benign	0.03
IGL02516:Prss29	APN	17	25,539,875 (GRCm39)	missense	probably damaging	1.00
R1538:Prss29	UTSW	17	25,539,257 (GRCm39)	start codon destroyed	possibly damaging	0.93
R4285:Prss29	UTSW	17	25,541,231 (GRCm39)	missense	probably damaging	1.00
R5148:Prss29	UTSW	17	25,539,881 (GRCm39)	missense	probably benign	0.00
R5468:Prss29	UTSW	17	25,540,020 (GRCm39)	missense	possibly damaging	0.95
R5483:Prss29	UTSW	17	25,541,177 (GRCm39)	missense	probably benign	0.00
R6226:Prss29	UTSW	17	25,539,513 (GRCm39)	missense	possibly damaging	0.74
R6346:Prss29	UTSW	17	25,540,084 (GRCm39)	missense	possibly damaging	0.83
R7430:Prss29	UTSW	17	25,540,113 (GRCm39)	critical splice donor site	probably null
R7547:Prss29	UTSW	17	25,539,896 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCCAGAAACTGATCCTAAAGG -3'
(R):5'- TGGTCACCTACACTCCAGAG -3'

Sequencing Primer
(F):5'- CATGTTATGTGCAGGCAACC -3'
(R):5'- AGAGCCTAAACCCTGGCCG -3'

Posted On

2017-02-10