Mutagenetix > Incidental Mutation

Incidental Mutation 'R7720:Prss50'

595181

Institutional Source

Beutler Lab

Gene Symbol

Prss50

Ensembl Gene

ENSMUSG00000048752

Gene Name

serine protease 50

Synonyms

Tsp50

MMRRC Submission

067892-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110687035-110693697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110690403 bp (GRCm39)

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
Agap2	A	G	10: 126,926,957 (GRCm39)	D1018G	probably damaging	Het
Atm	T	C	9: 53,433,539 (GRCm39)	N237S	possibly damaging	Het
Card6	G	T	15: 5,127,905 (GRCm39)	Q1164K	unknown	Het
Ccdc202	A	G	14: 96,119,548 (GRCm39)	R102G	probably benign	Het
Cped1	G	A	6: 22,222,430 (GRCm39)	C730Y	probably damaging	Het
Csmd1	A	T	8: 15,981,108 (GRCm39)	L2770Q	probably damaging	Het
Ctsw	T	C	19: 5,517,072 (GRCm39)	T87A	probably damaging	Het
Dock4	T	C	12: 40,856,974 (GRCm39)	I1269T	probably damaging	Het
F11	T	C	8: 45,705,127 (GRCm39)	E138G	possibly damaging	Het
Fam124b	A	G	1: 80,177,974 (GRCm39)	S342P	probably damaging	Het
Garin2	T	C	12: 78,758,907 (GRCm39)	S76P	probably damaging	Het
Gipr	T	C	7: 18,896,884 (GRCm39)	I129V	probably benign	Het
Gria4	A	T	9: 4,464,288 (GRCm39)	V558D	probably damaging	Het
Gsdme	C	T	6: 50,206,288 (GRCm39)	G185E	probably damaging	Het
Hapstr1	T	A	16: 8,660,966 (GRCm39)	C148S	probably damaging	Het
Hgd	T	A	16: 37,413,797 (GRCm39)	D86E	probably benign	Het
Hmcn1	T	A	1: 150,522,460 (GRCm39)	H3480L	probably benign	Het
Hs2st1	T	C	3: 144,159,783 (GRCm39)	N127D	probably damaging	Het
Ilf3	A	G	9: 21,310,833 (GRCm39)	N599S	possibly damaging	Het
Itsn1	G	A	16: 91,664,971 (GRCm39)	G1132R	unknown	Het
Jakmip2	A	G	18: 43,704,973 (GRCm39)	S343P	possibly damaging	Het
Kif1b	A	G	4: 149,266,812 (GRCm39)	V1670A	probably benign	Het
Lman2	A	T	13: 55,500,890 (GRCm39)		probably null	Het
Ltbp1	A	T	17: 75,692,119 (GRCm39)	Y1579F	probably damaging	Het
Mon2	G	A	10: 122,868,493 (GRCm39)	A520V	probably benign	Het
Mrpl10	T	G	11: 96,938,363 (GRCm39)	V171G	possibly damaging	Het
Mrps27	A	T	13: 99,537,838 (GRCm39)	T153S	unknown	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Nlrp10	A	G	7: 108,523,695 (GRCm39)	V595A	probably benign	Het
Nol4	A	T	18: 23,173,080 (GRCm39)	M7K	probably benign	Het
Oasl1	G	A	5: 115,067,980 (GRCm39)	S188N	probably damaging	Het
Or2d3c	C	A	7: 106,526,618 (GRCm39)	G16V	probably benign	Het
Or5h25	T	C	16: 58,930,134 (GRCm39)	I280V	probably benign	Het
Pcdhga2	A	G	18: 37,802,993 (GRCm39)	Y279C	probably damaging	Het
Pfpl	C	T	19: 12,406,538 (GRCm39)	A263V	probably benign	Het
Phf3	T	G	1: 30,868,938 (GRCm39)	K703N	probably damaging	Het
Pik3ca	C	G	3: 32,490,367 (GRCm39)	P5A	probably damaging	Het
Plekha6	T	C	1: 133,221,445 (GRCm39)	V987A	probably damaging	Het
Ppp3ca	T	A	3: 136,596,250 (GRCm39)	I305N	probably damaging	Het
Prex2	A	G	1: 11,252,161 (GRCm39)	K1069E	possibly damaging	Het
Ptprg	A	G	14: 12,211,703 (GRCm38)	N995S	probably benign	Het
Robo2	C	A	16: 73,693,903 (GRCm39)	G1375V	probably benign	Het
Rtl1	T	C	12: 109,560,864 (GRCm39)	Y325C	possibly damaging	Het
Semp2l1	T	C	1: 32,585,178 (GRCm39)	D244G	probably benign	Het
Shcbp1	A	C	8: 4,798,720 (GRCm39)	S400A	probably damaging	Het
Shfl	C	T	9: 20,780,155 (GRCm39)		probably benign	Het
Sirpb1c	T	A	3: 15,886,236 (GRCm39)	Y380F	probably benign	Het
Tbl2	G	C	5: 135,188,329 (GRCm39)	L374F	probably damaging	Het
Tpr	C	A	1: 150,305,283 (GRCm39)	A1524E	possibly damaging	Het
Vmn2r45	T	A	7: 8,486,460 (GRCm39)	E276V	probably damaging	Het
Vps16	C	T	2: 130,283,623 (GRCm39)	Q606*	probably null	Het
Vstm5	A	T	9: 15,150,652 (GRCm39)	Q29L	probably benign	Het
Wipi1	G	T	11: 109,473,249 (GRCm39)	S250Y	probably damaging	Het

Other mutations in Prss50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Prss50	APN	9	110,691,474 (GRCm39)	missense	possibly damaging	0.89
IGL01838:Prss50	APN	9	110,693,560 (GRCm39)	missense	probably benign	0.38
IGL03185:Prss50	APN	9	110,687,279 (GRCm39)	missense	probably benign
R0347:Prss50	UTSW	9	110,691,418 (GRCm39)	missense	probably damaging	0.97
R1545:Prss50	UTSW	9	110,690,336 (GRCm39)	missense	probably damaging	0.99
R1660:Prss50	UTSW	9	110,691,557 (GRCm39)	missense	possibly damaging	0.61
R1844:Prss50	UTSW	9	110,687,081 (GRCm39)	unclassified	probably benign
R1969:Prss50	UTSW	9	110,691,449 (GRCm39)	missense	probably damaging	0.97
R2025:Prss50	UTSW	9	110,690,328 (GRCm39)	missense	probably benign	0.00
R2090:Prss50	UTSW	9	110,691,361 (GRCm39)	missense	probably damaging	1.00
R2917:Prss50	UTSW	9	110,691,613 (GRCm39)	missense	probably null	1.00
R4063:Prss50	UTSW	9	110,687,480 (GRCm39)	missense	probably benign
R4799:Prss50	UTSW	9	110,692,864 (GRCm39)	missense	probably damaging	0.99
R5763:Prss50	UTSW	9	110,691,517 (GRCm39)	nonsense	probably null
R5984:Prss50	UTSW	9	110,691,454 (GRCm39)	missense	probably damaging	0.97
R6159:Prss50	UTSW	9	110,693,371 (GRCm39)	missense	probably benign	0.32
R6318:Prss50	UTSW	9	110,690,367 (GRCm39)	missense	probably damaging	1.00
R7296:Prss50	UTSW	9	110,690,357 (GRCm39)	missense	probably damaging	1.00
R7323:Prss50	UTSW	9	110,692,800 (GRCm39)	missense	possibly damaging	0.83
R8359:Prss50	UTSW	9	110,691,370 (GRCm39)	missense	probably damaging	0.97
R8428:Prss50	UTSW	9	110,687,128 (GRCm39)	missense	unknown
R8841:Prss50	UTSW	9	110,687,480 (GRCm39)	missense	probably benign
R8851:Prss50	UTSW	9	110,687,081 (GRCm39)	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