Mutagenetix > Incidental Mutation

Incidental Mutation 'R5246:Prss46'

401156

Institutional Source

Beutler Lab

Gene Symbol

Prss46

Ensembl Gene

ENSMUSG00000049719

Gene Name

serine protease 46

Synonyms

1700112C13Rik

MMRRC Submission

042817-MU

Accession Numbers

Essential gene?

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

Stock #

R5246 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110673574-110685586 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110679102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 101 (V101D)

Ref Sequence

ENSEMBL: ENSMUSP00000135787 (fasta)

Gene Model

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

AlphaFold

Q5M8S2

Predicted Effect

probably damaging
Transcript: ENSMUST00000119427
AA Change: V98D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112855
Gene: ENSMUSG00000049719
AA Change: V98D

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 damaging
Transcript: ENSMUST00000176403
AA Change: V101D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135787
Gene: ENSMUSG00000049719
AA Change: V101D

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: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	T	A	10: 14,302,509 (GRCm39)	Y968F	probably damaging	Het
Bltp1	G	A	3: 37,102,199 (GRCm39)	R1299Q	probably damaging	Het
Brwd1	G	A	16: 95,803,757 (GRCm39)	P2138S	probably damaging	Het
Cdkl4	T	A	17: 80,846,913 (GRCm39)		probably null	Het
Cep55	T	A	19: 38,058,119 (GRCm39)	D237E	probably benign	Het
Clhc1	T	A	11: 29,525,434 (GRCm39)	S503T	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Efcab5	T	C	11: 77,079,671 (GRCm39)	Y25C	probably damaging	Het
Eif3c	G	A	7: 126,156,410 (GRCm39)	T444I	possibly damaging	Het
Epb41l4b	G	T	4: 57,040,989 (GRCm39)	N491K	probably damaging	Het
Gm9776	A	T	13: 94,495,065 (GRCm39)		probably benign	Het
Lrcol1	A	C	5: 110,502,377 (GRCm39)	E84D	possibly damaging	Het
Lrp1b	A	G	2: 41,360,952 (GRCm39)		probably null	Het
Mup5	T	A	4: 61,752,874 (GRCm39)	I50L	probably benign	Het
Myo16	A	T	8: 10,612,212 (GRCm39)	K1286*	probably null	Het
Pramel22	G	T	4: 143,382,127 (GRCm39)	P190T	probably benign	Het
Rint1	T	A	5: 24,005,809 (GRCm39)	W164R	probably damaging	Het
Rnf139	G	A	15: 58,771,552 (GRCm39)	V526I	probably damaging	Het
Rptn	A	T	3: 93,304,140 (GRCm39)	D491V	probably damaging	Het
Rptn	A	G	3: 93,305,036 (GRCm39)	T790A	possibly damaging	Het
Scn8a	T	C	15: 100,908,938 (GRCm39)	L802P	probably damaging	Het
Scrib	T	C	15: 75,936,646 (GRCm39)	E435G	probably benign	Het
Sdk1	C	A	5: 142,100,317 (GRCm39)	T1449K	possibly damaging	Het
Septin7	T	A	9: 25,210,832 (GRCm39)	L289M	probably damaging	Het
Spry1	A	G	3: 37,696,916 (GRCm39)	Y53C	probably damaging	Het
Srpk3	C	T	X: 72,818,555 (GRCm39)	R82*	probably null	Het
Tmcc1	A	G	6: 116,020,381 (GRCm39)	V142A	probably damaging	Het
Vmn2r45	T	G	7: 8,486,251 (GRCm39)	T346P	probably benign	Het
Wdr25	A	G	12: 108,993,382 (GRCm39)	I533V	probably benign	Het
Zfp292	A	C	4: 34,805,842 (GRCm39)	Y2401D	possibly 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
R5201:Prss46	UTSW	9	110,680,543 (GRCm39)	nonsense	probably null
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'- ATCCGCATTTGAGGGCTTG -3'
(R):5'- CCAGCACATGGTTCCAATGC -3'

Sequencing Primer
(F):5'- AGGGCTTGGCTTTCAGGC -3'
(R):5'- ATGCTTGGCTTTAAATTGAATGAGG -3'

Posted On

2016-07-06