Mutagenetix > Incidental Mutation

Incidental Mutation 'R7720:Prss50'

595181

Institutional Source

Beutler Lab

Gene Symbol

Prss50

Ensembl Gene

ENSMUSG00000048752

Gene Name

protease, serine 50

Synonyms

Tsp50

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R7720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110857967-110864629 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110861335 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 182 (V182A)

Ref Sequence

ENSEMBL: ENSMUSP00000059668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050958] [ENSMUST00000051097] [ENSMUST00000119427] [ENSMUST00000176403]

AlphaFold

Q8BLH5

Predicted Effect

probably benign
Transcript: ENSMUST00000050958

SMART Domains

Protein: ENSMUSP00000060148
Gene: ENSMUSG00000049555

Domain	Start	End	E-Value	Type
transmembrane domain	12	31	N/A	INTRINSIC
low complexity region	37	44	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000051097
AA Change: V182A

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

SMART Domains

Protein: ENSMUSP00000059668
Gene: ENSMUSG00000048752
AA Change: V182A

Domain	Start	End	E-Value	Type
signal peptide	1	47	N/A	INTRINSIC
low complexity region	112	127	N/A	INTRINSIC
Tryp_SPc	172	407	2.87e-43	SMART
low complexity region	425	439	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119427

SMART Domains

Protein: ENSMUSP00000112855
Gene: ENSMUSG00000049719

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 benign
Transcript: ENSMUST00000176403

SMART Domains

Protein: ENSMUSP00000135787
Gene: ENSMUSG00000049719

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196027

Meta Mutation Damage Score

0.2381

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	T	A	16: 8,843,102	C148S	probably damaging	Het
4921530L21Rik	A	G	14: 95,882,112	R102G	probably benign	Het
A230050P20Rik	C	T	9: 20,868,859		probably benign	Het
Agap2	A	G	10: 127,091,088	D1018G	probably damaging	Het
Atm	T	C	9: 53,522,239	N237S	possibly damaging	Het
Card6	G	T	15: 5,098,423	Q1164K	unknown	Het
Cped1	G	A	6: 22,222,431	C730Y	probably damaging	Het
Csmd1	A	T	8: 15,931,108	L2770Q	probably damaging	Het
Ctsw	T	C	19: 5,467,044	T87A	probably damaging	Het
Dock4	T	C	12: 40,806,975	I1269T	probably damaging	Het
F11	T	C	8: 45,252,090	E138G	possibly damaging	Het
Fam124b	A	G	1: 80,200,257	S342P	probably damaging	Het
Fam71d	T	C	12: 78,712,133	S76P	probably damaging	Het
Gipr	T	C	7: 19,162,959	I129V	probably benign	Het
Gm5415	T	C	1: 32,546,097	D244G	probably benign	Het
Gria4	A	T	9: 4,464,288	V558D	probably damaging	Het
Gsdme	C	T	6: 50,229,308	G185E	probably damaging	Het
Hgd	T	A	16: 37,593,435	D86E	probably benign	Het
Hmcn1	T	A	1: 150,646,709	H3480L	probably benign	Het
Hs2st1	T	C	3: 144,454,022	N127D	probably damaging	Het
Ilf3	A	G	9: 21,399,537	N599S	possibly damaging	Het
Itsn1	G	A	16: 91,868,083	G1132R	unknown	Het
Jakmip2	A	G	18: 43,571,908	S343P	possibly damaging	Het
Kif1b	A	G	4: 149,182,355	V1670A	probably benign	Het
Lman2	A	T	13: 55,353,077		probably null	Het
Ltbp1	A	T	17: 75,385,124	Y1579F	probably damaging	Het
Mon2	G	A	10: 123,032,588	A520V	probably benign	Het
Mrpl10	T	G	11: 97,047,537	V171G	possibly damaging	Het
Mrps27	A	T	13: 99,401,330	T153S	unknown	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Nlrp10	A	G	7: 108,924,488	V595A	probably benign	Het
Nol4	A	T	18: 23,040,023	M7K	probably benign	Het
Oasl1	G	A	5: 114,929,921	S188N	probably damaging	Het
Olfr193	T	C	16: 59,109,771	I280V	probably benign	Het
Olfr709-ps1	C	A	7: 106,927,411	G16V	probably benign	Het
Pcdhga2	A	G	18: 37,669,940	Y279C	probably damaging	Het
Pfpl	C	T	19: 12,429,174	A263V	probably benign	Het
Phf3	T	G	1: 30,829,857	K703N	probably damaging	Het
Pik3ca	C	G	3: 32,436,218	P5A	probably damaging	Het
Plekha6	T	C	1: 133,293,707	V987A	probably damaging	Het
Ppp3ca	T	A	3: 136,890,489	I305N	probably damaging	Het
Prex2	A	G	1: 11,181,937	K1069E	possibly damaging	Het
Ptprg	A	G	14: 12,211,703	N995S	probably benign	Het
Robo2	C	A	16: 73,897,015	G1375V	probably benign	Het
Rtl1	T	C	12: 109,594,430	Y325C	possibly damaging	Het
Shcbp1	A	C	8: 4,748,720	S400A	probably damaging	Het
Sirpb1c	T	A	3: 15,832,072	Y380F	probably benign	Het
Tbl2	G	C	5: 135,159,475	L374F	probably damaging	Het
Tpr	C	A	1: 150,429,532	A1524E	possibly damaging	Het
Vmn2r45	T	A	7: 8,483,461	E276V	probably damaging	Het
Vps16	C	T	2: 130,441,703	Q606*	probably null	Het
Vstm5	A	T	9: 15,239,356	Q29L	probably benign	Het
Wipi1	G	T	11: 109,582,423	S250Y	probably damaging	Het

Other mutations in Prss50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Prss50	APN	9	110862406	missense	possibly damaging	0.89
IGL01838:Prss50	APN	9	110864492	missense	probably benign	0.38
IGL03185:Prss50	APN	9	110858211	missense	probably benign
R0347:Prss50	UTSW	9	110862350	missense	probably damaging	0.97
R1545:Prss50	UTSW	9	110861268	missense	probably damaging	0.99
R1660:Prss50	UTSW	9	110862489	missense	possibly damaging	0.61
R1844:Prss50	UTSW	9	110858013	unclassified	probably benign
R1969:Prss50	UTSW	9	110862381	missense	probably damaging	0.97
R2025:Prss50	UTSW	9	110861260	missense	probably benign	0.00
R2090:Prss50	UTSW	9	110862293	missense	probably damaging	1.00
R2917:Prss50	UTSW	9	110862545	missense	probably null	1.00
R4063:Prss50	UTSW	9	110858412	missense	probably benign
R4799:Prss50	UTSW	9	110863796	missense	probably damaging	0.99
R5763:Prss50	UTSW	9	110862449	nonsense	probably null
R5984:Prss50	UTSW	9	110862386	missense	probably damaging	0.97
R6159:Prss50	UTSW	9	110864303	missense	probably benign	0.32
R6318:Prss50	UTSW	9	110861299	missense	probably damaging	1.00
R7296:Prss50	UTSW	9	110861289	missense	probably damaging	1.00
R7323:Prss50	UTSW	9	110863732	missense	possibly damaging	0.83
R8359:Prss50	UTSW	9	110862302	missense	probably damaging	0.97
R8428:Prss50	UTSW	9	110858060	missense	unknown
R8841:Prss50	UTSW	9	110858412	missense	probably benign
R8851:Prss50	UTSW	9	110858013	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGATGCTGTCATTCCATAGC -3'
(R):5'- CTTGATGGGTCACCTGGTAGAG -3'

Sequencing Primer
(F):5'- TGCTGTCATTCCATAGCAACACATAG -3'
(R):5'- CTGGTAGAGTGACCGTGACTC -3'

Posted On

2019-11-12