Mutagenetix > Incidental Mutation

Incidental Mutation 'R0506:Prss33'

47623

Institutional Source

Beutler Lab

Gene Symbol

Prss33

Ensembl Gene

ENSMUSG00000049620

Gene Name

serine protease 33

Synonyms

mT6, tryptase-6, Eos

MMRRC Submission

038701-MU

Accession Numbers

Essential gene?

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

Stock #

R0506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24052321-24055030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24054079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 42 (D42E)

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: D42E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000059491
Gene: ENSMUSG00000049620
AA Change: D42E

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: W76R

SMART Domains

Protein: ENSMUSP00000111104
Gene: ENSMUSG00000049620
AA Change: W76R

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: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (100/100)

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	T	A	7: 119,137,319 (GRCm39)	C378*	probably null	Het
Ago3	T	C	4: 126,311,045 (GRCm39)	D56G	possibly damaging	Het
Ahnak	G	T	19: 8,986,492 (GRCm39)	G2592V	probably damaging	Het
Aldh6a1	C	T	12: 84,480,300 (GRCm39)	G470D	probably damaging	Het
Ankub1	T	A	3: 57,597,796 (GRCm39)	N58I	probably damaging	Het
Apol7b	G	T	15: 77,309,728 (GRCm39)	T23K	probably benign	Het
Arap2	G	A	5: 62,763,474 (GRCm39)	P1557S	possibly damaging	Het
Arhgap24	T	C	5: 103,023,643 (GRCm39)	Y136H	probably damaging	Het
Atp1a1	A	G	3: 101,497,128 (GRCm39)	F393L	probably damaging	Het
Bcdin3d	A	T	15: 99,368,873 (GRCm39)	C109S	probably damaging	Het
Catsperd	A	G	17: 56,965,078 (GRCm39)	K475R	possibly damaging	Het
Cblb	A	G	16: 52,024,843 (GRCm39)	T913A	probably benign	Het
Cbx6	A	G	15: 79,712,404 (GRCm39)	L341P	probably benign	Het
Cd177	T	C	7: 24,457,781 (GRCm39)	Y159C	probably damaging	Het
Cdh20	A	G	1: 110,027,844 (GRCm39)	N530D	probably damaging	Het
Cdk8	T	C	5: 146,235,682 (GRCm39)	F270L	probably damaging	Het
Ces2c	A	T	8: 105,574,656 (GRCm39)	T38S	probably damaging	Het
Chst14	T	C	2: 118,758,202 (GRCm39)	L357P	probably damaging	Het
Clca3b	T	A	3: 144,528,627 (GRCm39)		probably benign	Het
Cluh	A	G	11: 74,555,720 (GRCm39)	S839G	probably benign	Het
Cnga4	T	A	7: 105,056,947 (GRCm39)	V350E	probably damaging	Het
Creb1	G	A	1: 64,609,426 (GRCm39)	G180R	probably damaging	Het
Csmd3	T	C	15: 48,320,907 (GRCm39)	E301G	probably benign	Het
Cyp4f18	A	T	8: 72,749,844 (GRCm39)	D268E	probably benign	Het
Dock5	A	G	14: 68,022,241 (GRCm39)		probably benign	Het
Dpy19l4	T	A	4: 11,289,715 (GRCm39)	H332L	probably benign	Het
Dync2h1	T	A	9: 7,113,153 (GRCm39)	H224L	probably benign	Het
Dzip1l	C	A	9: 99,545,134 (GRCm39)	Q585K	possibly damaging	Het
Erf	C	T	7: 24,943,801 (GRCm39)	G510D	probably damaging	Het
Fanci	T	C	7: 79,081,926 (GRCm39)	L623P	probably benign	Het
Fat1	T	C	8: 45,475,988 (GRCm39)	V1655A	probably damaging	Het
Fat4	T	C	3: 38,942,463 (GRCm39)	V452A	probably benign	Het
Gal3st4	C	T	5: 138,264,151 (GRCm39)	G283S	probably benign	Het
Gm5422	A	G	10: 31,126,318 (GRCm39)		noncoding transcript	Het
Gnal	C	T	18: 67,221,744 (GRCm39)	T49I	unknown	Het
Gng5	A	G	3: 146,209,103 (GRCm39)	N57S	probably damaging	Het
Herc1	A	G	9: 66,355,441 (GRCm39)	I2231V	probably damaging	Het
Hgfac	G	T	5: 35,201,584 (GRCm39)	G272W	probably damaging	Het
Hmcn1	T	A	1: 150,618,092 (GRCm39)	D1265V	possibly damaging	Het
Ifi207	T	A	1: 173,563,878 (GRCm39)	Q47L	possibly damaging	Het
Klhl40	G	A	9: 121,607,133 (GRCm39)	E98K	probably damaging	Het
Lepr	G	T	4: 101,630,207 (GRCm39)		probably benign	Het
Lyst	A	G	13: 13,812,600 (GRCm39)	H1004R	probably benign	Het
Map3k1	T	A	13: 111,892,298 (GRCm39)	R986*	probably null	Het
Mmp1b	C	A	9: 7,387,013 (GRCm39)	Q66H	possibly damaging	Het
Mpo	T	C	11: 87,694,330 (GRCm39)	S107P	probably benign	Het
Mroh9	T	C	1: 162,888,205 (GRCm39)	H290R	possibly damaging	Het
Myo7b	A	G	18: 32,097,439 (GRCm39)		probably null	Het
Myom1	T	C	17: 71,399,215 (GRCm39)		probably benign	Het
Nalcn	C	T	14: 123,834,026 (GRCm39)	V50I	possibly damaging	Het
Negr1	A	G	3: 156,866,385 (GRCm39)		probably benign	Het
Nlrc5	T	G	8: 95,219,753 (GRCm39)		probably benign	Het
Nyap2	G	A	1: 81,065,029 (GRCm39)	D14N	probably damaging	Het
Or10w1	T	A	19: 13,632,261 (GRCm39)	I151N	possibly damaging	Het
Or2h1	C	A	17: 37,404,203 (GRCm39)	G188W	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Parp14	A	T	16: 35,661,779 (GRCm39)	S1419T	possibly damaging	Het
Piezo2	A	G	18: 63,160,615 (GRCm39)	F2347S	probably damaging	Het
Pigf	A	G	17: 87,316,337 (GRCm39)	V147A	probably benign	Het
Pkhd1	A	T	1: 20,629,693 (GRCm39)	M637K	probably benign	Het
Plce1	T	C	19: 38,748,582 (GRCm39)	I1771T	probably benign	Het
Ppp6c	A	T	2: 39,096,660 (GRCm39)		probably benign	Het
Prag1	T	C	8: 36,570,854 (GRCm39)	V479A	possibly damaging	Het
Psmb10	A	G	8: 106,664,177 (GRCm39)	V64A	possibly damaging	Het
Psmd14	A	G	2: 61,630,407 (GRCm39)	T306A	probably benign	Het
Psmg1	C	T	16: 95,790,687 (GRCm39)		probably benign	Het
Rc3h2	A	T	2: 37,266,671 (GRCm39)		probably null	Het
Reln	C	T	5: 22,125,494 (GRCm39)	V2730I	probably damaging	Het
Sec24a	A	T	11: 51,634,622 (GRCm39)	H101Q	probably benign	Het
Selenoi	A	G	5: 30,471,954 (GRCm39)	N385S	probably benign	Het
Slc24a4	T	C	12: 102,097,882 (GRCm39)		probably null	Het
Slc4a10	G	A	2: 62,080,877 (GRCm39)	S338N	probably benign	Het
Slfn3	A	T	11: 83,103,986 (GRCm39)	T286S	probably damaging	Het
Snx29	A	G	16: 11,213,167 (GRCm39)	D111G	probably benign	Het
Sp8	T	C	12: 118,812,300 (GRCm39)	S52P	possibly damaging	Het
Srek1	G	T	13: 103,897,098 (GRCm39)	T81K	probably damaging	Het
Sry	C	G	Y: 2,662,864 (GRCm39)	Q265H	unknown	Het
Taf3	A	G	2: 9,945,804 (GRCm39)	V600A	probably benign	Het
Tatdn2	C	A	6: 113,679,550 (GRCm39)	D298E	probably benign	Het
Tmem253	A	T	14: 52,254,663 (GRCm39)		probably benign	Het
Tmem63a	T	A	1: 180,785,614 (GRCm39)		probably null	Het
Tmprss11b	T	C	5: 86,809,499 (GRCm39)	D331G	probably damaging	Het
Tor1aip1	T	A	1: 155,883,420 (GRCm39)	K143*	probably null	Het
Trappc8	A	T	18: 20,977,245 (GRCm39)	N841K	possibly damaging	Het
Trio	T	C	15: 27,855,049 (GRCm39)	Q711R	probably benign	Het
Trmt10b	C	A	4: 45,304,306 (GRCm39)	T114N	probably damaging	Het
Trpv2	C	A	11: 62,473,732 (GRCm39)	A129D	probably benign	Het
Ttll4	T	G	1: 74,727,777 (GRCm39)	D846E	probably benign	Het
Ugt2a3	A	G	5: 87,484,508 (GRCm39)	L172P	possibly damaging	Het
Usp19	T	A	9: 108,371,686 (GRCm39)	F355Y	probably damaging	Het
Vmn1r209	C	T	13: 22,990,114 (GRCm39)	G192D	probably damaging	Het
Vmn2r107	T	G	17: 20,578,021 (GRCm39)	D443E	probably benign	Het
Wee2	A	T	6: 40,440,187 (GRCm39)	E445V	probably benign	Het
Zer1	A	T	2: 29,991,819 (GRCm39)	I680N	probably damaging	Het
Zfhx4	T	C	3: 5,467,795 (GRCm39)	L2651P	probably damaging	Het
Zfp692	C	T	11: 58,199,881 (GRCm39)	Q157*	probably null	Het
Zfp964	T	A	8: 70,116,587 (GRCm39)	C396S	unknown	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
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
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'- ACACTGTACTCTGACGGCCATACC -3'
(R):5'- CCTAATCTCATTGCTGACCCGGAC -3'

Sequencing Primer
(F):5'- CTGCTGACACTACCTGGAC -3'
(R):5'- GGACTCTGTTACCTGGCATC -3'

Posted On

2013-06-12