Mutagenetix > Incidental Mutation

Incidental Mutation 'R5483:Prss29'

434448

Institutional Source

Beutler Lab

Gene Symbol

Prss29

Ensembl Gene

ENSMUSG00000034039

Gene Name

serine protease 29

Synonyms

mISP-2, Isp2

MMRRC Submission

043044-MU

Accession Numbers

Essential gene?

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

Stock #

R5483 (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 25541177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 207 (K207R)

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: K207R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000024993
Gene: ENSMUSG00000034039
AA Change: K207R

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: 99.0%
3x: 97.5%
10x: 94.8%
20x: 89.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cfap206	G	T	4: 34,711,404 (GRCm39)	Q498K	probably benign	Het
Dnmt3a	A	G	12: 3,949,615 (GRCm39)	Y524C	probably damaging	Het
Dnttip2	A	T	3: 122,070,446 (GRCm39)	T554S	probably damaging	Het
Emc1	A	G	4: 139,102,687 (GRCm39)	T949A	probably damaging	Het
Enkur	A	T	2: 21,199,109 (GRCm39)	F142I	probably benign	Het
Fbxo24	C	T	5: 137,617,002 (GRCm39)	A362T	probably damaging	Het
Heatr1	A	G	13: 12,413,795 (GRCm39)	H124R	probably damaging	Het
Hira	T	A	16: 18,788,290 (GRCm39)	I1011N	possibly damaging	Het
Ipo5	T	A	14: 121,157,450 (GRCm39)	I96N	probably benign	Het
Kctd16	A	G	18: 40,663,929 (GRCm39)	I353V	probably benign	Het
Klf11	T	A	12: 24,705,410 (GRCm39)	L288*	probably null	Het
Kmt2a	A	T	9: 44,735,921 (GRCm39)		probably benign	Het
Lmbrd1	T	C	1: 24,783,989 (GRCm39)	Y373H	probably damaging	Het
Mlh1	G	A	9: 111,060,126 (GRCm39)	A584V	possibly damaging	Het
Ociad1	T	C	5: 73,452,314 (GRCm39)	F35S	probably damaging	Het
Or11l3	T	A	11: 58,516,783 (GRCm39)	I30F	possibly damaging	Het
Or6c208	T	C	10: 129,223,526 (GRCm39)	I8T	probably benign	Het
Or8u3-ps	C	T	2: 85,952,962 (GRCm39)	Q232*	probably null	Het
Pkd1l1	C	T	11: 8,851,141 (GRCm39)		probably null	Het
Pole	T	A	5: 110,442,434 (GRCm39)	D287E	probably damaging	Het
Polh	G	T	17: 46,483,671 (GRCm39)	S531R	probably benign	Het
Rasgrp3	T	G	17: 75,832,013 (GRCm39)	S611R	probably damaging	Het
Rffl	G	T	11: 82,703,549 (GRCm39)		probably null	Het
Scrib	A	G	15: 75,939,508 (GRCm39)		probably null	Het
Serpinb3a	T	A	1: 106,974,899 (GRCm39)	K211N	probably benign	Het
Slc22a3	C	T	17: 12,683,354 (GRCm39)	A170T	probably damaging	Het
Socs5	T	G	17: 87,442,402 (GRCm39)	F447L	probably damaging	Het
Srrm2	T	A	17: 24,040,246 (GRCm39)	S2393T	probably damaging	Het
Usp7	T	A	16: 8,516,404 (GRCm39)	Y585F	probably benign	Het
Vps39	A	T	2: 120,153,564 (GRCm39)	I670N	probably benign	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
R5852:Prss29	UTSW	17	25,541,408 (GRCm39)	missense	probably benign	0.01
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'- GGAGCTATGCTGCAGATAGTC -3'
(R):5'- CCTGTCACATTGCAGACCAG -3'

Sequencing Primer
(F):5'- TATCCCCAGGTGGAGCAGTAG -3'
(R):5'- TCACATTGCAGACCAGAGGGC -3'

Posted On

2016-10-06