Mutagenetix > Incidental Mutation

Incidental Mutation 'R5201:Prss46'

400805

Institutional Source

Beutler Lab

Gene Symbol

Prss46

Ensembl Gene

ENSMUSG00000049719

Gene Name

serine protease 46

Synonyms

1700112C13Rik

MMRRC Submission

042776-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R5201 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

110673574-110685586 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 110680543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 229 (C229*)

Ref Sequence

ENSEMBL: ENSMUSP00000135787 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119427] [ENSMUST00000176403]

AlphaFold

Q5M8S2

Predicted Effect

probably null
Transcript: ENSMUST00000119427
AA Change: C226*

SMART Domains

Protein: ENSMUSP00000112855
Gene: ENSMUSG00000049719
AA Change: C226*

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	40	273	1.62e-60	SMART
transmembrane domain	288	310	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000176403
AA Change: C229*

SMART Domains

Protein: ENSMUSP00000135787
Gene: ENSMUSG00000049719
AA Change: C229*

Domain	Start	End	E-Value	Type
Tryp_SPc	43	276	1.62e-60	SMART
transmembrane domain	291	313	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	C	A	15: 81,946,745 (GRCm39)	T214N	probably benign	Het
Actn4	A	T	7: 28,615,680 (GRCm39)		probably null	Het
Arap2	T	C	5: 62,840,832 (GRCm39)	E678G	probably damaging	Het
Atl2	T	C	17: 80,172,580 (GRCm39)	N130S	probably benign	Het
Cby2	A	G	14: 75,821,449 (GRCm39)	V101A	probably damaging	Het
Cyp2b10	A	G	7: 25,616,419 (GRCm39)	D342G	probably damaging	Het
Dnah6	A	G	6: 73,172,715 (GRCm39)	Y248H	possibly damaging	Het
Drd5	A	T	5: 38,477,366 (GRCm39)	M120L	probably damaging	Het
Duox1	A	G	2: 122,158,403 (GRCm39)	R629G	probably benign	Het
Dyrk1b	A	G	7: 27,884,521 (GRCm39)	Y279C	probably damaging	Het
Efemp1	A	T	11: 28,864,590 (GRCm39)	I215L	probably benign	Het
Enpp6	C	A	8: 47,518,486 (GRCm39)	Q205K	probably damaging	Het
Fam170a	A	T	18: 50,415,193 (GRCm39)	T280S	probably benign	Het
Fam222a	G	A	5: 114,749,127 (GRCm39)	A108T	possibly damaging	Het
Fgd3	G	T	13: 49,449,854 (GRCm39)	P132T	probably benign	Het
Fzr1	A	T	10: 81,203,362 (GRCm39)	L399H	probably damaging	Het
Galnt15	G	A	14: 31,771,822 (GRCm39)	R289Q	probably damaging	Het
Hira	T	C	16: 18,770,865 (GRCm39)	V834A	probably damaging	Het
Ilf3	T	C	9: 21,300,679 (GRCm39)	L93P	probably damaging	Het
Itgae	G	A	11: 73,001,382 (GRCm39)	R71Q	probably benign	Het
Itprid1	T	C	6: 55,944,991 (GRCm39)	S571P	probably benign	Het
Kif14	T	A	1: 136,431,145 (GRCm39)	S1181T	probably benign	Het
Lrig3	C	A	10: 125,849,020 (GRCm39)	P946Q	possibly damaging	Het
Macf1	A	T	4: 123,369,738 (GRCm39)	C1674*	probably null	Het
Malt1	A	G	18: 65,609,126 (GRCm39)	K710R	probably benign	Het
Man1a2	A	T	3: 100,524,328 (GRCm39)	N373K	probably benign	Het
Mpped2	A	G	2: 106,529,847 (GRCm39)	N32S	possibly damaging	Het
Mrtfb	A	C	16: 13,219,456 (GRCm39)	T701P	probably benign	Het
Myh10	A	T	11: 68,674,021 (GRCm39)	T652S	probably damaging	Het
Nfia	A	G	4: 97,999,462 (GRCm39)	Y485C	probably damaging	Het
Olfml2b	A	T	1: 170,496,433 (GRCm39)	T355S	probably benign	Het
Or10q3	A	T	19: 11,847,995 (GRCm39)	I195K	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh1	A	T	18: 38,331,971 (GRCm39)	V344D	probably damaging	Het
Plekhn1	C	A	4: 156,314,984 (GRCm39)	V558L	probably benign	Het
Prr14l	A	G	5: 32,987,591 (GRCm39)	S635P	possibly damaging	Het
Rad50	A	G	11: 53,589,647 (GRCm39)		probably null	Het
Slc27a3	A	T	3: 90,296,526 (GRCm39)	L191Q	probably benign	Het
Surf4	A	G	2: 26,823,778 (GRCm39)		probably benign	Het
Taf3	A	G	2: 9,956,995 (GRCm39)	S391P	probably damaging	Het
Tep1	A	C	14: 51,105,567 (GRCm39)	L151R	probably benign	Het
Tmprss11d	A	C	5: 86,457,214 (GRCm39)	N148K	possibly damaging	Het
Tpd52l2	G	A	2: 181,156,879 (GRCm39)	V172I	probably benign	Het
Vmn2r77	A	G	7: 86,460,846 (GRCm39)	D724G	probably damaging	Het
Wdr75	T	A	1: 45,862,519 (GRCm39)	D779E	probably benign	Het
Zfp943	A	T	17: 22,211,794 (GRCm39)	K293N	probably damaging	Het

Other mutations in Prss46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03324:Prss46	APN	9	110,678,747 (GRCm39)	missense	probably benign	0.01
PIT4508001:Prss46	UTSW	9	110,680,484 (GRCm39)	missense	probably damaging	0.99
PIT4677001:Prss46	UTSW	9	110,685,098 (GRCm39)	missense	probably benign	0.00
R0013:Prss46	UTSW	9	110,679,123 (GRCm39)	missense	probably damaging	0.96
R0013:Prss46	UTSW	9	110,679,123 (GRCm39)	missense	probably damaging	0.96
R0827:Prss46	UTSW	9	110,680,500 (GRCm39)	missense	probably benign	0.21
R1521:Prss46	UTSW	9	110,678,703 (GRCm39)	missense	probably benign	0.00
R1532:Prss46	UTSW	9	110,679,236 (GRCm39)	missense	probably benign	0.00
R4888:Prss46	UTSW	9	110,673,618 (GRCm39)	start codon destroyed	possibly damaging	0.75
R5246:Prss46	UTSW	9	110,679,102 (GRCm39)	missense	probably damaging	1.00
R7196:Prss46	UTSW	9	110,680,533 (GRCm39)	missense	probably benign	0.38
R7446:Prss46	UTSW	9	110,679,189 (GRCm39)	missense	probably damaging	1.00
R7699:Prss46	UTSW	9	110,678,622 (GRCm39)	missense	probably benign	0.00
R7704:Prss46	UTSW	9	110,679,065 (GRCm39)	missense	probably damaging	1.00
R7938:Prss46	UTSW	9	110,680,500 (GRCm39)	missense	probably benign	0.21
R8005:Prss46	UTSW	9	110,685,144 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGATCTTTCTCTCCATAGGGCAC -3'
(R):5'- TCTCTGATGGTCACATGCAAAAG -3'

Sequencing Primer
(F):5'- GGCACCCAAAGACTCCCTATAGTG -3'
(R):5'- GACCTGAGAATGTTGCACAC -3'

Posted On

2016-07-06