Mutagenetix > Incidental Mutation

Incidental Mutation 'R7296:Prss50'

571635

Institutional Source

Beutler Lab

Gene Symbol

Prss50

Ensembl Gene

ENSMUSG00000048752

Gene Name

serine protease 50

Synonyms

Tsp50

MMRRC Submission

045400-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R7296 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110687035-110693697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110690357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 167 (T167A)

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: T167A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000059668
Gene: ENSMUSG00000048752
AA Change: T167A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (85/87)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,422,302 (GRCm39)	M226K	probably benign	Het
4921524L21Rik	T	G	18: 6,626,385 (GRCm39)	S132R	probably damaging	Het
A4gnt	T	G	9: 99,502,335 (GRCm39)	I165S	probably damaging	Het
Abca14	G	A	7: 119,877,534 (GRCm39)	D1061N	probably benign	Het
Abcc9	G	A	6: 142,617,319 (GRCm39)	P582S	probably damaging	Het
Abhd5	G	A	9: 122,208,638 (GRCm39)	V343I	probably benign	Het
Adam6a	C	T	12: 113,509,192 (GRCm39)	R522C	probably damaging	Het
Ankle2	G	A	5: 110,385,590 (GRCm39)	R313H	probably damaging	Het
Aplf	G	A	6: 87,623,197 (GRCm39)	T315I	probably damaging	Het
Asic5	C	T	3: 81,928,383 (GRCm39)	P491S	probably benign	Het
Atp5f1b	T	C	10: 127,921,391 (GRCm39)	Y230H	probably benign	Het
B4galt6	A	T	18: 20,861,099 (GRCm39)	I51N	probably damaging	Het
Bmal2	G	A	6: 146,723,632 (GRCm39)	V321I	not run	Het
C4b	A	G	17: 34,962,633 (GRCm39)	L23S	probably damaging	Het
Cables2	A	G	2: 179,902,129 (GRCm39)	V410A		Het
Ccdc168	T	A	1: 44,100,076 (GRCm39)	K341*	probably null	Het
Cdyl	A	G	13: 36,047,378 (GRCm39)	M489V	probably damaging	Het
Clip4	T	C	17: 72,096,996 (GRCm39)	M40T	probably damaging	Het
Col12a1	T	C	9: 79,589,348 (GRCm39)	Y1069C	probably damaging	Het
Col6a3	T	C	1: 90,755,708 (GRCm39)	M194V	probably benign	Het
Colec11	T	A	12: 28,644,714 (GRCm39)	D260V	probably damaging	Het
Cracdl	T	C	1: 37,653,699 (GRCm39)	T1036A	possibly damaging	Het
Cux2	T	C	5: 121,999,319 (GRCm39)	D1207G	probably benign	Het
Cyp2d34	G	T	15: 82,501,436 (GRCm39)	N297K	possibly damaging	Het
Dmbt1	A	G	7: 130,713,861 (GRCm39)	Y1643C	unknown	Het
Dnmt3c	A	G	2: 153,556,946 (GRCm39)	T288A	probably benign	Het
Dock8	T	A	19: 25,162,245 (GRCm39)	F1842I	probably benign	Het
Dysf	A	G	6: 84,083,880 (GRCm39)	I740V	probably benign	Het
Epha6	T	A	16: 59,736,201 (GRCm39)	M778L	probably benign	Het
Eri2	A	T	7: 119,385,739 (GRCm39)	L254*	probably null	Het
Fam43b	A	G	4: 138,123,152 (GRCm39)	F56S	probably damaging	Het
Fat4	C	A	3: 38,943,294 (GRCm39)	S729*	probably null	Het
Fbxw22	C	A	9: 109,211,143 (GRCm39)	W386L	probably benign	Het
Fgd6	T	A	10: 93,879,909 (GRCm39)	C254*	probably null	Het
Fgd6	C	A	10: 93,975,743 (GRCm39)	T1386K	probably benign	Het
Fkbp7	G	T	2: 76,502,108 (GRCm39)	D98E	possibly damaging	Het
Hectd1	C	T	12: 51,832,635 (GRCm39)	C913Y	possibly damaging	Het
Hgf	T	A	5: 16,769,841 (GRCm39)	M105K	probably benign	Het
Icam1	A	C	9: 20,930,311 (GRCm39)	D55A	probably benign	Het
Itga2	A	C	13: 114,993,930 (GRCm39)		probably null	Het
Kcnj5	A	C	9: 32,234,045 (GRCm39)	L90R	probably damaging	Het
Klra17	T	A	6: 129,808,555 (GRCm39)	N226I	possibly damaging	Het
Krt1	T	A	15: 101,759,064 (GRCm39)	R33S	unknown	Het
L3mbtl3	T	A	10: 26,158,728 (GRCm39)	D615V	unknown	Het
Lrp2	T	A	2: 69,312,725 (GRCm39)	Y2521F	probably benign	Het
Megf10	A	T	18: 57,408,825 (GRCm39)	N589I	probably damaging	Het
Metap1d	G	C	2: 71,337,129 (GRCm39)	G14A	probably benign	Het
Mfap5	T	A	6: 122,505,381 (GRCm39)	D162E	probably benign	Het
Mixl1	T	C	1: 180,524,523 (GRCm39)	I19V	probably benign	Het
Mtrr	G	T	13: 68,716,979 (GRCm39)	Y411*	probably null	Het
Myh7	T	C	14: 55,227,482 (GRCm39)	T318A	probably benign	Het
Nbeal1	T	A	1: 60,349,383 (GRCm39)	Y2348*	probably null	Het
Nhsl3	A	G	4: 129,119,211 (GRCm39)	Y170H	probably damaging	Het
Niban2	T	C	2: 32,812,654 (GRCm39)	S468P	possibly damaging	Het
Nlrc3	T	C	16: 3,781,454 (GRCm39)	S668G	probably damaging	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or10ag59	T	A	2: 87,406,052 (GRCm39)	V208E	probably damaging	Het
Or12j2	A	T	7: 139,916,654 (GRCm39)	D293V	possibly damaging	Het
Or4c117	C	A	2: 88,955,180 (GRCm39)	R298S	probably benign	Het
Pcna	A	G	2: 132,094,797 (GRCm39)	S54P	probably benign	Het
Pde6a	A	G	18: 61,391,364 (GRCm39)	T570A	probably damaging	Het
Phf21b	A	T	15: 84,739,918 (GRCm39)	M1K	probably null	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Prob1	A	G	18: 35,786,352 (GRCm39)	F634S	possibly damaging	Het
Ptpn1	T	C	2: 167,816,692 (GRCm39)	V249A	probably damaging	Het
Rai1	G	A	11: 60,079,499 (GRCm39)	V1188I	probably benign	Het
Ric1	G	A	19: 29,561,978 (GRCm39)		probably null	Het
Robo1	C	T	16: 72,786,519 (GRCm39)	Q844*	probably null	Het
Rpn1	A	G	6: 88,061,619 (GRCm39)	D36G	possibly damaging	Het
Serpinb1b	A	T	13: 33,277,810 (GRCm39)	M348L	probably benign	Het
Setd4	T	C	16: 93,380,830 (GRCm39)		probably null	Het
Setd5	T	G	6: 113,124,518 (GRCm39)	S1124A	probably benign	Het
Slc35c1	C	A	2: 92,289,084 (GRCm39)	V154F	probably damaging	Het
Slc7a6os	G	T	8: 106,937,121 (GRCm39)	S113*	probably null	Het
Syne2	T	A	12: 76,149,810 (GRCm39)	D1787E	probably benign	Het
Tas2r144	A	C	6: 42,192,373 (GRCm39)	I38L	probably damaging	Het
Tepsin	G	T	11: 119,982,534 (GRCm39)	T512K	possibly damaging	Het
Utp20	A	G	10: 88,606,586 (GRCm39)	V1662A	probably benign	Het
Vmn1r201	C	T	13: 22,659,509 (GRCm39)	A241V	possibly damaging	Het
Vmn2r60	T	A	7: 41,785,826 (GRCm39)	S210T	probably benign	Het
Wdr6	G	T	9: 108,451,784 (GRCm39)	H700N	probably damaging	Het
Zdhhc8	T	C	16: 18,052,790 (GRCm39)	T29A	probably benign	Het
Zfp335	A	G	2: 164,742,052 (GRCm39)	I614T	probably damaging	Het
Zfp54	T	A	17: 21,653,844 (GRCm39)	S113T	probably benign	Het
Zfp873	T	A	10: 81,897,071 (GRCm39)	C601S	probably damaging	Het
Zfyve26	T	C	12: 79,325,146 (GRCm39)		probably null	Het
Zmynd8	T	C	2: 165,681,929 (GRCm39)	T201A	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
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'- GGTGGATGCTGTCATTCCATAG -3'
(R):5'- TGGTAGAGTGACCGTGACTC -3'

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

Posted On

2019-09-13