Mutagenetix > Incidental Mutation

Incidental Mutation 'R5763:Prss50'

446128

Institutional Source

Beutler Lab

Gene Symbol

Prss50

Ensembl Gene

ENSMUSG00000048752

Gene Name

serine protease 50

Synonyms

Tsp50

MMRRC Submission

043364-MU

Accession Numbers

Essential gene?

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

Stock #

R5763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110687035-110693697 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 110691517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 82 (K82*)

Gene Model

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

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 null
Transcript: ENSMUST00000051097
AA Change: K274*

SMART Domains

Protein: ENSMUSP00000059668
Gene: ENSMUSG00000048752
AA Change: K274*

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 null
Transcript: ENSMUST00000196027
AA Change: K82*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,670,768 (GRCm39)	H330R	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Actl6b	T	A	5: 137,565,063 (GRCm39)	L314Q	possibly damaging	Het
Adam22	A	T	5: 8,184,544 (GRCm39)	C483S	probably damaging	Het
Adamts7	T	A	9: 90,070,462 (GRCm39)	L601H	probably damaging	Het
Agl	A	T	3: 116,547,009 (GRCm39)	D1280E	probably damaging	Het
Ankrd60	TGGCCACGCGG	TGG	2: 173,419,882 (GRCm39)		probably null	Het
Astn2	T	A	4: 65,647,568 (GRCm39)	M757L	probably benign	Het
Atr	A	G	9: 95,827,176 (GRCm39)	M2407V	probably benign	Het
Brca2	T	C	5: 150,471,471 (GRCm39)	F2283L	possibly damaging	Het
Brwd1	A	T	16: 95,835,043 (GRCm39)	Y940*	probably null	Het
Camk2g	A	T	14: 20,789,415 (GRCm39)	N218K	probably damaging	Het
Ces2a	C	T	8: 105,462,756 (GRCm39)	P115L	probably benign	Het
Col11a1	T	C	3: 113,888,245 (GRCm39)		probably benign	Het
Col1a2	T	A	6: 4,515,682 (GRCm39)	D150E	unknown	Het
Crybg3	A	G	16: 59,374,973 (GRCm39)	S2094P	possibly damaging	Het
Cttnbp2	T	C	6: 18,414,298 (GRCm39)	N916D	probably benign	Het
Ddx24	A	G	12: 103,383,673 (GRCm39)	F593L	probably damaging	Het
Dhx16	G	A	17: 36,192,580 (GRCm39)	E171K	possibly damaging	Het
Dnah5	T	C	15: 28,311,298 (GRCm39)	I1759T	probably damaging	Het
Dnah9	C	A	11: 65,846,065 (GRCm39)	S2991I	probably damaging	Het
Entpd7	G	T	19: 43,692,705 (GRCm39)	V87L	probably damaging	Het
Fam221a	T	G	6: 49,355,518 (GRCm39)	L207V	probably damaging	Het
Foxm1	T	A	6: 128,343,071 (GRCm39)	I135N	probably benign	Het
Gabpa	C	A	16: 84,657,297 (GRCm39)	Q391K	possibly damaging	Het
Gipr	T	A	7: 18,897,475 (GRCm39)	H111L	probably damaging	Het
Gmip	A	G	8: 70,270,501 (GRCm39)	D737G	probably damaging	Het
Herc6	T	A	6: 57,639,872 (GRCm39)	N995K	probably damaging	Het
Ldha	G	A	7: 46,497,213 (GRCm39)		probably benign	Het
Lrrc37	G	A	11: 103,504,469 (GRCm39)	P324S	probably damaging	Het
Masp1	T	C	16: 23,314,997 (GRCm39)	E88G	probably damaging	Het
Mical2	G	A	7: 111,973,861 (GRCm39)		probably null	Het
Mill1	T	A	7: 17,979,587 (GRCm39)	V18E	probably benign	Het
Mrgpra3	A	T	7: 47,239,355 (GRCm39)	C190*	probably null	Het
Nog	C	T	11: 89,192,291 (GRCm39)	V186M	probably damaging	Het
Nrxn2	T	C	19: 6,581,369 (GRCm39)	F392L	probably benign	Het
Or11h7	T	C	14: 50,891,525 (GRCm39)	I277T	possibly damaging	Het
Or12j3	T	A	7: 139,953,568 (GRCm39)		probably null	Het
Or1e33	T	A	11: 73,738,693 (GRCm39)	Q86L	probably benign	Het
Or4a79	T	A	2: 89,552,372 (GRCm39)	M28L	probably benign	Het
Or7c74	T	C	2: 37,161,025 (GRCm39)		noncoding transcript	Het
Phyhd1	T	A	2: 30,169,983 (GRCm39)	D158E	probably damaging	Het
Pik3r4	G	T	9: 105,546,974 (GRCm39)	K917N	probably benign	Het
Pnma1	A	G	12: 84,194,124 (GRCm39)	V193A	possibly damaging	Het
Podxl2	T	C	6: 88,826,805 (GRCm39)	E167G	probably damaging	Het
Qsox1	A	G	1: 155,655,625 (GRCm39)	S513P	probably benign	Het
Rheb	A	G	5: 25,012,785 (GRCm39)	V98A	probably benign	Het
Rhoj	A	G	12: 75,438,606 (GRCm39)	I131V	probably benign	Het
Rsph4a	A	T	10: 33,781,684 (GRCm39)	D178V	probably damaging	Het
Setd2	T	G	9: 110,385,343 (GRCm39)		probably null	Het
Siglecf	A	T	7: 43,005,744 (GRCm39)	K434*	probably null	Het
Slc14a1	T	C	18: 78,159,629 (GRCm39)	Y88C	probably benign	Het
Snx15	T	C	19: 6,172,140 (GRCm39)	E89G	probably damaging	Het
Son	C	T	16: 91,454,378 (GRCm39)	R1042C	probably damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Suz12	C	A	11: 79,916,134 (GRCm39)	Y457*	probably null	Het
Tet1	T	A	10: 62,675,847 (GRCm39)	N743I	probably damaging	Het
Tmc6	A	G	11: 117,660,259 (GRCm39)	F660L	possibly damaging	Het
Tnpo1	A	C	13: 98,996,445 (GRCm39)	I452S	possibly damaging	Het
Trav4-3	G	T	14: 53,836,844 (GRCm39)	G103V	probably damaging	Het
Ubap2	T	C	4: 41,195,809 (GRCm39)	K994E	probably damaging	Het
Vmn2r14	T	C	5: 109,363,724 (GRCm39)	T731A	possibly damaging	Het
Vmn2r52	T	A	7: 9,905,231 (GRCm39)	I203L	probably benign	Het
Zfp663	G	T	2: 165,200,355 (GRCm39)	S75*	probably null	Het
Zik1	G	T	7: 10,226,293 (GRCm39)	H25N	probably benign	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
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
R7720:Prss50	UTSW	9	110,690,403 (GRCm39)	missense	probably damaging	1.00
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'- CTGGAGCTGATGGAATACACC -3'
(R):5'- AAATGTTCGTCCATGGGGCAC -3'

Sequencing Primer
(F):5'- CCATGTTAACTACATAGTGAGGGC -3'
(R):5'- CCCCAGCCACACCCAAGTC -3'

Posted On

2016-11-21