Mutagenetix > Incidental Mutation

Incidental Mutation 'R6662:Prss33'

528038

Institutional Source

Beutler Lab

Gene Symbol

Prss33

Ensembl Gene

ENSMUSG00000049620

Gene Name

protease, serine 33

Synonyms

tryptase-6, mT6, Eos

MMRRC Submission

044782-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6662 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23833360-23836056 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23833960 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 247 (S247G)

Ref Sequence

ENSEMBL: ENSMUSP00000059491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024926] [ENSMUST00000059906] [ENSMUST00000069579] [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 damaging
Transcript: ENSMUST00000059906
AA Change: S247G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059491
Gene: ENSMUSG00000049620
AA Change: S247G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000069579

SMART Domains

Protein: ENSMUSP00000066210
Gene: ENSMUSG00000055839

Domain	Start	End	E-Value	Type
UBQ	3	80	5.1e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115444

SMART Domains

Protein: ENSMUSP00000111104
Gene: ENSMUSG00000049620

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

Meta Mutation Damage Score

0.8479

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	G	19: 57,073,853		probably null	Het
Acox1	A	G	11: 116,175,323	Y418H	probably damaging	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Aldh3a1	G	A	11: 61,214,655	V196I	probably benign	Het
Aox3	A	G	1: 58,118,615	K44E	probably damaging	Het
Bad	T	A	19: 6,951,070		probably benign	Het
BC034090	G	T	1: 155,226,339	Q60K	possibly damaging	Het
Casp6	A	G	3: 129,912,226	T181A	probably benign	Het
Catsperg2	G	A	7: 29,719,513		probably benign	Het
Ccdc14	T	C	16: 34,690,794	L46P	probably damaging	Het
Ces1b	A	G	8: 93,064,069	L364S	probably benign	Het
Cfap45	T	C	1: 172,529,850	I15T	probably benign	Het
D730048I06Rik	C	A	9: 35,790,000	R6M	possibly damaging	Het
Dph5	G	A	3: 115,928,556	E228K	probably benign	Het
Fat4	G	T	3: 38,956,821	L2023F	possibly damaging	Het
Garem1	T	C	18: 21,148,247	N351D	probably benign	Het
Gm14124	G	A	2: 150,266,252		probably null	Het
Grm2	C	T	9: 106,648,053	A488T	probably benign	Het
Ifit3b	A	G	19: 34,611,937	E171G	probably damaging	Het
Il1rn	A	T	2: 24,336,875		probably null	Het
Itih5	A	T	2: 10,249,181	I748F	probably benign	Het
Kcnh5	C	A	12: 75,007,611	D520Y	probably damaging	Het
Mgat5	C	A	1: 127,469,237	H574N	probably damaging	Het
Moxd1	A	C	10: 24,284,760	D437A	probably damaging	Het
Mybpc2	A	G	7: 44,506,166	F888L	probably benign	Het
Ncs1	T	A	2: 31,287,360	L183Q	probably damaging	Het
Neto2	A	T	8: 85,663,215	D206E	probably damaging	Het
Omp	A	G	7: 98,145,339	L27P	probably damaging	Het
Oxsm	A	G	14: 16,242,287	S161P	probably benign	Het
Pde4b	A	G	4: 102,601,898	I381M	possibly damaging	Het
Pramel5	A	T	4: 144,273,105	N137K	probably benign	Het
Rassf9	T	A	10: 102,546,038	L425Q	possibly damaging	Het
Setx	A	T	2: 29,158,114	D1909V	probably damaging	Het
Slc26a3	A	T	12: 31,457,346	K402*	probably null	Het
Slco1a6	G	A	6: 142,133,215	T118I	probably damaging	Het
Syne1	A	G	10: 5,128,416	L6769P	probably damaging	Het
Tas2r107	A	T	6: 131,659,489	V199D	possibly damaging	Het
Tchp	A	G	5: 114,720,015		probably null	Het
Trdn	A	T	10: 33,474,487	N684I	probably damaging	Het
Trio	G	T	15: 27,854,996	T700K	probably benign	Het
Ttn	C	T	2: 76,755,898	V20084I	probably benign	Het
Ubl3	A	T	5: 148,509,306	Y62*	probably null	Het
Uckl1	A	G	2: 181,573,260	Y267H	possibly damaging	Het
Zfp786	T	C	6: 47,826,986	N41D	probably damaging	Het
Zfp983	T	C	17: 21,662,085	S310P	probably damaging	Het

Other mutations in Prss33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Scissorhands	UTSW	17	23834702	missense	probably benign	0.00
R0506:Prss33	UTSW	17	23835105	missense	probably benign	0.00
R1201:Prss33	UTSW	17	23835110	nonsense	probably null
R1478:Prss33	UTSW	17	23835098	missense	probably damaging	1.00
R1652:Prss33	UTSW	17	23835141	missense	probably benign	0.00
R1652:Prss33	UTSW	17	23835142	missense	probably benign	0.10
R1662:Prss33	UTSW	17	23834811	splice site	probably null
R1994:Prss33	UTSW	17	23834198	missense	probably damaging	0.99
R2151:Prss33	UTSW	17	23834843	missense	probably damaging	1.00
R2153:Prss33	UTSW	17	23834843	missense	probably damaging	1.00
R2154:Prss33	UTSW	17	23834843	missense	probably damaging	1.00
R5002:Prss33	UTSW	17	23835358	unclassified	probably benign
R6648:Prss33	UTSW	17	23834702	missense	probably benign	0.00
R6801:Prss33	UTSW	17	23834839	missense	possibly damaging	0.88
R7726:Prss33	UTSW	17	23834229	missense	probably damaging	1.00
R8335:Prss33	UTSW	17	23834595	critical splice donor site	probably null
R8413:Prss33	UTSW	17	23833956	missense	probably damaging	1.00
R8678:Prss33	UTSW	17	23834749	missense	probably benign	0.11
R8775:Prss33	UTSW	17	23833911	missense	possibly damaging	0.65
R8775-TAIL:Prss33	UTSW	17	23833911	missense	possibly damaging	0.65
R9151:Prss33	UTSW	17	23833992	missense	probably benign	0.00
R9332:Prss33	UTSW	17	23834749	missense	probably damaging	0.99
R9624:Prss33	UTSW	17	23835682	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TCTCAGCTTCATGTGAGAAAGAG -3'
(R):5'- AGGTGTGTCTGCTAACCCTC -3'

Sequencing Primer
(F):5'- CTTCATGTGAGAAAGAGGGGAATGTG -3'
(R):5'- GAATTGGTTCCCCAGCCAC -3'

Posted On

2018-07-24