Mutagenetix > Incidental Mutation

Incidental Mutation 'R6648:Prss33'

524396

Institutional Source

Beutler Lab

Gene Symbol

Prss33

Ensembl Gene

ENSMUSG00000049620

Gene Name

serine protease 33

Synonyms

mT6, tryptase-6, Eos

MMRRC Submission

044769-MU

Accession Numbers

Essential gene?

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

Stock #

R6648 (G1)

Quality Score

193.009

Status

Validated

Chromosome

Chromosomal Location

24052321-24055030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24053676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 134 (S134P)

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: S134P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000059491
Gene: ENSMUSG00000049620
AA Change: S134P

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: 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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	C	17: 45,827,490 (GRCm39)	Y511H	probably damaging	Het
Arhgef38	A	T	3: 132,838,236 (GRCm39)	I600N	probably damaging	Het
Cacna1g	A	T	11: 94,323,395 (GRCm39)	C1270S	probably damaging	Het
Ccar2	T	G	14: 70,376,674 (GRCm39)	D890A	probably benign	Het
Cep76	A	T	18: 67,752,804 (GRCm39)	V548D	probably benign	Het
Chat	T	G	14: 32,176,651 (GRCm39)	Q41P	probably benign	Het
Ddx24	T	A	12: 103,374,634 (GRCm39)	N850I	probably benign	Het
Dst	A	G	1: 34,301,122 (GRCm39)	I5879V	possibly damaging	Het
Ece1	A	G	4: 137,648,470 (GRCm39)	T92A	probably benign	Het
Ecrg4	T	A	1: 43,777,851 (GRCm39)	F87I	probably damaging	Het
Fpgs	G	T	2: 32,574,799 (GRCm39)	C439*	probably null	Het
H2-Q4	A	T	17: 35,601,981 (GRCm39)	E281V	probably damaging	Het
Hydin	A	G	8: 111,252,299 (GRCm39)		probably null	Het
Iqgap2	T	C	13: 95,818,719 (GRCm39)	E679G	probably benign	Het
Kif12	A	T	4: 63,089,554 (GRCm39)		probably null	Het
Kif21b	T	C	1: 136,080,135 (GRCm39)	V557A	probably benign	Het
Mki67	C	G	7: 135,299,169 (GRCm39)	S1955T	probably damaging	Het
Mybpc1	G	A	10: 88,358,861 (GRCm39)	T1110M	probably damaging	Het
Myh9	T	C	15: 77,650,972 (GRCm39)	H1625R	probably benign	Het
Nbeal2	G	A	9: 110,466,710 (GRCm39)	T704M	probably damaging	Het
Or1ad6	G	A	11: 50,860,000 (GRCm39)	D52N	probably damaging	Het
Or5a21	A	T	19: 12,311,130 (GRCm39)	M30K	probably benign	Het
Osbpl9	C	A	4: 108,948,876 (GRCm39)	Q91H	possibly damaging	Het
Pcsk5	A	T	19: 17,553,185 (GRCm39)	L665Q	probably damaging	Het
Pgm5	T	C	19: 24,838,996 (GRCm39)	D53G	probably benign	Het
Plcd4	A	G	1: 74,591,172 (GRCm39)	D189G	probably benign	Het
Plxnb1	A	T	9: 108,933,398 (GRCm39)	Q676L	probably benign	Het
Rln1	G	T	19: 29,309,521 (GRCm39)	T86K	probably benign	Het
Rnf213	G	A	11: 119,370,746 (GRCm39)	A4785T	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sh3tc2	T	C	18: 62,148,111 (GRCm39)	C1274R	probably benign	Het
Slc35a5	A	T	16: 44,964,280 (GRCm39)	F318I	probably damaging	Het
Slc41a3	T	C	6: 90,596,490 (GRCm39)	F20L	probably damaging	Het
Socs4	T	A	14: 47,527,633 (GRCm39)	N189K	probably benign	Het
Tiam2	A	T	17: 3,557,148 (GRCm39)	E1196V	probably damaging	Het
Tmc3	T	A	7: 83,246,751 (GRCm39)	V164D	probably damaging	Het
Trim46	T	C	3: 89,142,549 (GRCm39)	E623G	possibly damaging	Het
Ubr4	C	A	4: 139,180,030 (GRCm39)	C3403*	probably null	Het
Vmn1r194	A	T	13: 22,428,694 (GRCm39)	T104S	probably benign	Het
Vmn2r112	A	T	17: 22,837,467 (GRCm39)	I643F	probably damaging	Het
Zfp1002	T	C	2: 150,097,097 (GRCm39)	I111V	probably benign	Het
Zmynd11	T	G	13: 9,763,057 (GRCm39)	S95R	probably benign	Het
Zswim4	C	A	8: 84,957,543 (GRCm39)	R175L	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	24,054,116 (GRCm39)	missense	probably benign	0.10
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
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'- CTGGATTTCACACTGGGACTG -3'
(R):5'- ATGGTCCAGGTAGTGTCAGCAG -3'

Sequencing Primer
(F):5'- CTGTGAAAGACCAGGATTCAAAGTC -3'
(R):5'- TAGTGTCAGCAGCCGCC -3'

Posted On

2018-06-22