Mutagenetix > Incidental Mutation

Incidental Mutation 'R1652:Prss33'

188822

Institutional Source

Beutler Lab

Gene Symbol

Prss33

Ensembl Gene

ENSMUSG00000049620

Gene Name

serine protease 33

Synonyms

mT6, tryptase-6, Eos

MMRRC Submission

039688-MU

Accession Numbers

Essential gene?

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

Stock #

R1652 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24052321-24055030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24054116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 30 (M30K)

Ref Sequence

ENSEMBL: ENSMUSP00000059491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024926] [ENSMUST00000059906] [ENSMUST00000115444] [ENSMUST00000122936]

AlphaFold

Q80WM7

Predicted Effect

probably benign
Transcript: ENSMUST00000024926

SMART Domains

Protein: ENSMUSP00000024926
Gene: ENSMUSG00000024114

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	52	289	2.48e-79	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000059906
AA Change: M30K

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000059491
Gene: ENSMUSG00000049620
AA Change: M30K

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Tryp_SPc	33	271	9.03e-91	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000115444
AA Change: H63Q

SMART Domains

Protein: ENSMUSP00000111104
Gene: ENSMUSG00000049620
AA Change: H63Q

Domain	Start	End	E-Value	Type
Tryp_SPc	15	253	4.5e-93	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122936

SMART Domains

Protein: ENSMUSP00000120141
Gene: ENSMUSG00000024114

Domain	Start	End	E-Value	Type
Tryp_SPc	12	249	2.48e-79	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164140

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	T	A	14: 66,314,700 (GRCm39)	E37V	probably benign	Het
Adamts7	A	G	9: 90,071,697 (GRCm39)	D664G	probably damaging	Het
Adamtsl5	A	G	10: 80,178,011 (GRCm39)	V256A	probably benign	Het
Adrb1	C	T	19: 56,711,705 (GRCm39)	S301L	possibly damaging	Het
Akap9	A	G	5: 4,127,210 (GRCm39)	Y3686C	probably damaging	Het
Ap3b2	A	G	7: 81,123,147 (GRCm39)	S456P	probably damaging	Het
Atp1a4	T	C	1: 172,082,470 (GRCm39)	Y124C	probably damaging	Het
Bdkrb1	A	T	12: 105,570,502 (GRCm39)	T23S	probably damaging	Het
Cacna1g	A	G	11: 94,318,230 (GRCm39)	Y1468H	probably damaging	Het
Cep170b	A	G	12: 112,699,947 (GRCm39)	D152G	probably damaging	Het
Cers4	T	A	8: 4,566,908 (GRCm39)		probably null	Het
Cplane1	G	T	15: 8,230,630 (GRCm39)	R969L	probably damaging	Het
Cyp2t4	A	T	7: 26,856,815 (GRCm39)	D285V	possibly damaging	Het
Ddx56	A	T	11: 6,217,679 (GRCm39)	L14Q	probably damaging	Het
Dennd2d	C	A	3: 106,394,317 (GRCm39)	R63S	probably benign	Het
Dnah7b	T	A	1: 46,214,550 (GRCm39)	L1105*	probably null	Het
Eef1e1	A	T	13: 38,840,081 (GRCm39)	L75I	possibly damaging	Het
Eif1ad11	T	A	12: 87,993,853 (GRCm39)	V27E	probably benign	Het
Fam76b	A	G	9: 13,747,188 (GRCm39)	S191G	probably benign	Het
Fat1	T	A	8: 45,478,215 (GRCm39)	Y2420*	probably null	Het
Fbxw18	T	A	9: 109,519,695 (GRCm39)	L270F	probably benign	Het
Fech	T	A	18: 64,591,269 (GRCm39)	H385L	probably benign	Het
Fkbp4	A	T	6: 128,413,637 (GRCm39)	I2N	probably damaging	Het
Gda	A	T	19: 21,378,042 (GRCm39)	M339K	probably damaging	Het
Gdpgp1	T	A	7: 79,889,112 (GRCm39)	M381K	probably benign	Het
Glyctk	C	A	9: 106,034,356 (GRCm39)	V173L	probably damaging	Het
Gtf2ird1	G	A	5: 134,424,567 (GRCm39)	P393L	probably damaging	Het
Kat2a	T	C	11: 100,599,437 (GRCm39)	N517D	probably damaging	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lama1	G	A	17: 68,114,841 (GRCm39)	R2330Q	probably damaging	Het
Lamc1	C	T	1: 153,125,392 (GRCm39)	G597E	probably damaging	Het
Lekr1	A	T	3: 65,591,508 (GRCm39)	S82C	probably benign	Het
Lgi3	T	C	14: 70,768,656 (GRCm39)	F51S	probably damaging	Het
Lrba	T	C	3: 86,447,245 (GRCm39)	S2030P	probably damaging	Het
Map4k5	A	G	12: 69,877,201 (GRCm39)		probably null	Het
Mcoln2	C	A	3: 145,869,390 (GRCm39)	R32S	possibly damaging	Het
Metap1	A	T	3: 138,168,151 (GRCm39)	F324L	probably damaging	Het
Moxd2	C	T	6: 40,864,337 (GRCm39)	R31H	probably damaging	Het
Ncf4	T	A	15: 78,145,234 (GRCm39)	M274K	possibly damaging	Het
Nup205	T	G	6: 35,215,901 (GRCm39)	V1747G	probably benign	Het
Or10d3	G	A	9: 39,461,591 (GRCm39)	T192I	probably benign	Het
Or52r1c	A	G	7: 102,735,013 (GRCm39)	D91G	probably benign	Het
Or5ae1	T	C	7: 84,565,728 (GRCm39)	V247A	probably damaging	Het
Pbx3	C	T	2: 34,114,568 (GRCm39)	G122D	probably damaging	Het
Plcb3	A	G	19: 6,932,664 (GRCm39)	F1034L	probably benign	Het
Ppp2r1a	G	A	17: 21,176,236 (GRCm39)	V153I	probably benign	Het
R3hdm2	G	A	10: 127,330,960 (GRCm39)	S793N	probably benign	Het
Rab11fip5	C	T	6: 85,325,279 (GRCm39)	V343M	probably damaging	Het
Rere	A	G	4: 150,696,522 (GRCm39)		probably benign	Het
Rims1	G	T	1: 22,363,090 (GRCm39)	P52Q	probably damaging	Het
Scpep1	G	T	11: 88,843,260 (GRCm39)	S66*	probably null	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Shc3	A	T	13: 51,626,875 (GRCm39)	H129Q	probably damaging	Het
Slc22a20	A	T	19: 6,022,970 (GRCm39)	M391K	probably damaging	Het
Smurf1	A	T	5: 144,817,474 (GRCm39)	I712K	probably damaging	Het
Snx25	T	A	8: 46,502,510 (GRCm39)	I629L	probably damaging	Het
Supt16	A	C	14: 52,414,637 (GRCm39)	V425G	probably benign	Het
Tnik	G	A	3: 28,658,442 (GRCm39)	V576I	probably benign	Het
Trcg1	A	C	9: 57,152,856 (GRCm39)	D551A	probably damaging	Het
Ubald2	A	G	11: 116,325,178 (GRCm39)	N15S	probably damaging	Het
Usf1	T	C	1: 171,245,317 (GRCm39)	I243T	probably damaging	Het
Vmn2r19	A	T	6: 123,292,656 (GRCm39)	I233F	possibly damaging	Het
Vmn2r63	T	C	7: 42,577,635 (GRCm39)	N301S	probably benign	Het
Wdr27	A	G	17: 15,137,532 (GRCm39)	F419L	probably benign	Het

Other mutations in Prss33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Scissorhands	UTSW	17	24,053,676 (GRCm39)	missense	probably benign	0.00
R0506:Prss33	UTSW	17	24,054,079 (GRCm39)	missense	probably benign	0.00
R1201:Prss33	UTSW	17	24,054,084 (GRCm39)	nonsense	probably null
R1478:Prss33	UTSW	17	24,054,072 (GRCm39)	missense	probably damaging	1.00
R1652:Prss33	UTSW	17	24,054,115 (GRCm39)	missense	probably benign	0.00
R1662:Prss33	UTSW	17	24,053,785 (GRCm39)	splice site	probably null
R1994:Prss33	UTSW	17	24,053,172 (GRCm39)	missense	probably damaging	0.99
R2151:Prss33	UTSW	17	24,053,817 (GRCm39)	missense	probably damaging	1.00
R2153:Prss33	UTSW	17	24,053,817 (GRCm39)	missense	probably damaging	1.00
R2154:Prss33	UTSW	17	24,053,817 (GRCm39)	missense	probably damaging	1.00
R5002:Prss33	UTSW	17	24,054,332 (GRCm39)	unclassified	probably benign
R6648:Prss33	UTSW	17	24,053,676 (GRCm39)	missense	probably benign	0.00
R6662:Prss33	UTSW	17	24,052,934 (GRCm39)	missense	probably damaging	0.99
R6801:Prss33	UTSW	17	24,053,813 (GRCm39)	missense	possibly damaging	0.88
R7726:Prss33	UTSW	17	24,053,203 (GRCm39)	missense	probably damaging	1.00
R8335:Prss33	UTSW	17	24,053,569 (GRCm39)	critical splice donor site	probably null
R8413:Prss33	UTSW	17	24,052,930 (GRCm39)	missense	probably damaging	1.00
R8678:Prss33	UTSW	17	24,053,723 (GRCm39)	missense	probably benign	0.11
R8775:Prss33	UTSW	17	24,052,885 (GRCm39)	missense	possibly damaging	0.65
R8775-TAIL:Prss33	UTSW	17	24,052,885 (GRCm39)	missense	possibly damaging	0.65
R9151:Prss33	UTSW	17	24,052,966 (GRCm39)	missense	probably benign	0.00
R9332:Prss33	UTSW	17	24,053,723 (GRCm39)	missense	probably damaging	0.99
R9624:Prss33	UTSW	17	24,054,656 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GTCTTTCCTGGAGCTGGAACAGTG -3'
(R):5'- AGCTTGGCATGAGGTCAGTGTAAC -3'

Sequencing Primer
(F):5'- AGTGAGCAAGCACTGACC -3'
(R):5'- GTCAGTGTAACCAATATGTTCCACC -3'

Posted On

2014-05-09