Mutagenetix > Incidental Mutation

Incidental Mutation 'R0419:Prss3b'

36921

Institutional Source

Beutler Lab

Gene Symbol

Prss3b

Ensembl Gene

ENSMUSG00000029882

Gene Name

serine protease 3B

Synonyms

2210010C04Rik

MMRRC Submission

038621-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R0419 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41007202-41012443 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41011281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 34 (N34D)

Ref Sequence

ENSEMBL: ENSMUSP00000031931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031931]

AlphaFold

Q9CPN9

Predicted Effect

probably benign
Transcript: ENSMUST00000031931
AA Change: N34D

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

SMART Domains

Protein: ENSMUSP00000031931
Gene: ENSMUSG00000029882
AA Change: N34D

Domain	Start	End	E-Value	Type
Tryp_SPc	24	240	3.52e-102	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,601,842 (GRCm39)		probably benign	Het
5730507C01Rik	A	T	12: 18,583,424 (GRCm39)	R161S	possibly damaging	Het
Adamts5	T	C	16: 85,663,530 (GRCm39)	I735V	probably benign	Het
Arid1a	G	T	4: 133,408,435 (GRCm39)	P2024Q	unknown	Het
Ascc3	G	T	10: 50,625,022 (GRCm39)	V1637L	probably benign	Het
B3galt4	T	C	17: 34,169,764 (GRCm39)	Y158C	probably damaging	Het
BC049715	A	G	6: 136,817,143 (GRCm39)	T128A	possibly damaging	Het
Btaf1	T	A	19: 36,922,629 (GRCm39)	I11N	probably damaging	Het
Cfb	T	C	17: 35,077,485 (GRCm39)	I496V	probably damaging	Het
Chd8	A	T	14: 52,441,517 (GRCm39)	H858Q	probably benign	Het
Chrne	T	C	11: 70,506,549 (GRCm39)	I324V	probably benign	Het
Clec14a	T	C	12: 58,314,451 (GRCm39)	I390M	probably damaging	Het
Cpsf3	A	G	12: 21,347,800 (GRCm39)	Y207C	probably damaging	Het
Cubn	A	C	2: 13,474,574 (GRCm39)	I410S	possibly damaging	Het
Cubn	T	A	2: 13,474,575 (GRCm39)	I410F	possibly damaging	Het
Dlc1	T	C	8: 37,050,740 (GRCm39)	E997G	possibly damaging	Het
Emilin1	G	T	5: 31,072,366 (GRCm39)	V71F	probably damaging	Het
Esrp2	T	C	8: 106,861,307 (GRCm39)	E164G	probably damaging	Het
Fars2	A	G	13: 36,721,285 (GRCm39)	T410A	probably benign	Het
Fat3	A	G	9: 15,903,552 (GRCm39)	V2981A	probably damaging	Het
Fkbp15	G	A	4: 62,244,373 (GRCm39)	T472I	probably benign	Het
Gm6871	A	G	7: 41,222,869 (GRCm39)	V73A	probably benign	Het
Gnl2	T	G	4: 124,947,320 (GRCm39)	S647R	probably benign	Het
Grb10	T	C	11: 11,884,207 (GRCm39)	I500V	possibly damaging	Het
Herc1	T	C	9: 66,353,356 (GRCm39)		probably benign	Het
Iqgap2	A	C	13: 95,826,207 (GRCm39)		probably null	Het
Kcnu1	A	T	8: 26,427,646 (GRCm39)	N321I	probably benign	Het
Kif23	G	A	9: 61,833,687 (GRCm39)	R519*	probably null	Het
Klhl1	C	T	14: 96,619,225 (GRCm39)	R224Q	probably benign	Het
Lama1	T	C	17: 68,098,605 (GRCm39)		probably null	Het
Lamp3	T	C	16: 19,492,302 (GRCm39)	Y314C	probably damaging	Het
Lamtor5	C	A	3: 107,189,227 (GRCm39)	R88S	probably damaging	Het
Nbea	G	T	3: 55,726,715 (GRCm39)	A2088E	probably benign	Het
Neo1	A	G	9: 58,897,463 (GRCm39)		probably benign	Het
Ntn4	A	T	10: 93,518,291 (GRCm39)	R199S	probably benign	Het
Or5ap2	A	T	2: 85,680,311 (GRCm39)	R172*	probably null	Het
Plekho2	A	G	9: 65,464,334 (GRCm39)	S172P	possibly damaging	Het
Pmp2	T	C	3: 10,245,823 (GRCm39)	Y129C	probably damaging	Het
Ralgapa2	A	T	2: 146,270,592 (GRCm39)	M578K	possibly damaging	Het
Ranbp3	C	T	17: 57,015,219 (GRCm39)	T307M	possibly damaging	Het
Serpinb11	G	A	1: 107,304,590 (GRCm39)	W185*	probably null	Het
Setdb2	A	T	14: 59,644,193 (GRCm39)		probably null	Het
Sirpb1b	A	T	3: 15,613,656 (GRCm39)	V75E	probably damaging	Het
Slc13a1	A	T	6: 24,100,292 (GRCm39)	L397Q	probably damaging	Het
Slc19a1	T	A	10: 76,878,742 (GRCm39)	I355N	probably damaging	Het
Slc51a	T	A	16: 32,295,254 (GRCm39)	I275F	possibly damaging	Het
Spink14	T	C	18: 44,164,934 (GRCm39)	S84P	probably damaging	Het
Stx2	A	G	5: 129,070,641 (GRCm39)		probably benign	Het
Tgfbi	G	T	13: 56,780,006 (GRCm39)		probably benign	Het
Tshr	T	A	12: 91,504,643 (GRCm39)	M527K	probably damaging	Het
Upb1	T	C	10: 75,248,717 (GRCm39)	V79A	probably damaging	Het
Zdhhc5	A	T	2: 84,521,587 (GRCm39)		probably null	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp280d	T	C	9: 72,219,519 (GRCm39)	V32A	probably benign	Het

Other mutations in Prss3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Prss3b	APN	6	41,008,607 (GRCm39)	missense	probably damaging	1.00
IGL01625:Prss3b	APN	6	41,009,882 (GRCm39)	missense	probably benign	0.01
IGL02159:Prss3b	APN	6	41,009,891 (GRCm39)	missense	probably benign	0.34
IGL03161:Prss3b	APN	6	41,011,240 (GRCm39)	missense	probably damaging	0.96
R1715:Prss3b	UTSW	6	41,009,870 (GRCm39)	splice site	probably null
R2057:Prss3b	UTSW	6	41,009,315 (GRCm39)	missense	probably benign	0.06
R2059:Prss3b	UTSW	6	41,009,315 (GRCm39)	missense	probably benign	0.06
R2136:Prss3b	UTSW	6	41,012,396 (GRCm39)	missense	probably benign	0.28
R2446:Prss3b	UTSW	6	41,008,582 (GRCm39)	missense	probably benign	0.15
R4862:Prss3b	UTSW	6	41,009,345 (GRCm39)	missense	possibly damaging	0.74
R5068:Prss3b	UTSW	6	41,009,370 (GRCm39)	missense	probably benign	0.35
R5369:Prss3b	UTSW	6	41,009,940 (GRCm39)	missense	probably benign	0.00
R6392:Prss3b	UTSW	6	41,009,306 (GRCm39)	missense	probably damaging	1.00
R7010:Prss3b	UTSW	6	41,009,247 (GRCm39)	missense	probably benign	0.42
R7567:Prss3b	UTSW	6	41,010,127 (GRCm39)	missense	probably benign	0.04
R7727:Prss3b	UTSW	6	41,010,127 (GRCm39)	missense	probably benign	0.04
R7962:Prss3b	UTSW	6	41,012,387 (GRCm39)	missense	probably benign	0.01
R8373:Prss3b	UTSW	6	41,008,622 (GRCm39)	missense	possibly damaging	0.53
R8529:Prss3b	UTSW	6	41,009,369 (GRCm39)	missense	probably benign	0.00
R8883:Prss3b	UTSW	6	41,009,305 (GRCm39)	nonsense	probably null
R8916:Prss3b	UTSW	6	41,010,103 (GRCm39)	missense	probably damaging	1.00
R9066:Prss3b	UTSW	6	41,008,640 (GRCm39)	missense	probably benign	0.41
R9095:Prss3b	UTSW	6	41,010,038 (GRCm39)	missense	possibly damaging	0.76
R9180:Prss3b	UTSW	6	41,008,681 (GRCm39)	missense	probably damaging	1.00
R9389:Prss3b	UTSW	6	41,010,079 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AAATGATGGTTCCCTTCTGGGTCTTTAC -3'
(R):5'- ACAACTTATCGCCTGCCAAGATTAACG -3'

Sequencing Primer
(F):5'- accatttttttgcttagaatcaaacc -3'
(R):5'- TGCCAAGATTAACGCAAAGCTATC -3'

Posted On

2013-05-09