Mutagenetix > Incidental Mutation

Incidental Mutation 'R6033:Prss36'

480510

Institutional Source

Beutler Lab

Gene Symbol

Prss36

Ensembl Gene

ENSMUSG00000070371

Gene Name

protease, serine 36

Synonyms

polyserase-2, C330007D15Rik

MMRRC Submission

044205-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6033 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127932638-127946725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127934567 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 22 (R22G)

Ref Sequence

ENSEMBL: ENSMUSP00000121706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032988] [ENSMUST00000094026] [ENSMUST00000118755] [ENSMUST00000141385] [ENSMUST00000156152] [ENSMUST00000206124] [ENSMUST00000206568]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032988

SMART Domains

Protein: ENSMUSP00000032988
Gene: ENSMUSG00000030800

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Tryp_SPc	44	281	3.55e-98	SMART
low complexity region	320	338	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094026
AA Change: R534G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000091565
Gene: ENSMUSG00000070371
AA Change: R534G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	47	287	3.75e-88	SMART
Pfam:Trypsin	325	556	1.2e-16	PFAM
Pfam:Trypsin	599	798	6.6e-20	PFAM
Pfam:DUF1986	607	707	1.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118755
AA Change: R523G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000112659
Gene: ENSMUSG00000070371
AA Change: R523G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	47	287	3.75e-88	SMART
Pfam:Trypsin	325	545	9.7e-18	PFAM
Pfam:Trypsin	588	787	6.5e-20	PFAM
Pfam:DUF1986	590	696	8e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141385
AA Change: R22G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000120544
Gene: ENSMUSG00000070371
AA Change: R22G

Domain	Start	End	E-Value	Type
Blast:Tryp_SPc	38	121	3e-44	BLAST
SCOP:d1eaxa_	45	126	7e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144192

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150591

SMART Domains

Protein: ENSMUSP00000121532
Gene: ENSMUSG00000070371

Domain	Start	End	E-Value	Type
Tryp_SPc	15	194	6.48e-2	SMART
Blast:Tryp_SPc	231	311	4e-30	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153110

Predicted Effect

probably benign
Transcript: ENSMUST00000156152
AA Change: R22G

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000121706
Gene: ENSMUSG00000070371
AA Change: R22G

Domain	Start	End	E-Value	Type
Blast:Tryp_SPc	2	44	1e-21	BLAST
Tryp_SPc	89	238	8.18e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000206124

Predicted Effect

probably benign
Transcript: ENSMUST00000206568

Meta Mutation Damage Score

0.5850

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 96.9%
20x: 89.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700125H20Rik	A	G	11: 85,178,372	E72G	probably damaging	Het
Adgrl1	T	A	8: 83,918,922	V58E	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Alas1	A	G	9: 106,241,204	S240P	probably damaging	Het
Alox12e	C	T	11: 70,316,013	G616D	probably benign	Het
Arhgap8	A	G	15: 84,741,925	E67G	probably damaging	Het
Ash1l	T	C	3: 88,985,019	Y1402H	probably damaging	Het
Ccdc150	G	T	1: 54,285,628		probably null	Het
Cmtm8	T	C	9: 114,796,073	T97A	probably damaging	Het
Cnmd	T	C	14: 79,661,505	S36G	probably benign	Het
Dnah3	A	C	7: 120,071,647	N609K	probably benign	Het
Dph1	C	T	11: 75,191,197		probably benign	Het
Drosha	G	A	15: 12,925,999	A1225T	probably benign	Het
Eid3	T	A	10: 82,867,653	I316K	probably damaging	Het
Erich6	A	G	3: 58,623,201	L449S	probably benign	Het
Fhod1	T	C	8: 105,336,434		probably benign	Het
Glra1	A	G	11: 55,527,419	Y250H	probably damaging	Het
Gm6768	A	G	12: 119,261,740		noncoding transcript	Het
Hivep1	A	G	13: 42,157,107	E941G	probably benign	Het
Homer2	A	C	7: 81,618,679	S78A	possibly damaging	Het
Ica1	T	A	6: 8,630,799		probably null	Het
Ifna12	T	C	4: 88,602,917	E131G	possibly damaging	Het
Igbp1b	T	C	6: 138,658,209	Y79C	probably damaging	Het
Incenp	C	T	19: 9,872,697	V871I	probably damaging	Het
Jaml	G	A	9: 45,088,710	G60D	probably damaging	Het
Kcp	C	T	6: 29,493,194	C110Y	probably damaging	Het
Manba	T	C	3: 135,549,261	V460A	probably benign	Het
Myrfl	A	T	10: 116,849,101	C125S	probably benign	Het
Ncan	T	C	8: 70,112,590	D229G	probably damaging	Het
Nlrp10	A	T	7: 108,924,577	D565E	probably benign	Het
Npas2	T	C	1: 39,338,180	V541A	probably damaging	Het
Nsg2	G	A	11: 32,055,058	V87M	possibly damaging	Het
Olfr1040	A	T	2: 86,146,269	V155E	probably damaging	Het
Prkd2	C	T	7: 16,865,714	R701C	probably damaging	Het
Psmd1	T	C	1: 86,137,095	Y950H	probably damaging	Het
Slc45a4	G	A	15: 73,581,976	A716V	probably damaging	Het
Slc46a1	T	C	11: 78,466,007		probably null	Het
Slc6a5	T	C	7: 49,959,351	I768T	probably benign	Het
Slco6c1	C	T	1: 97,081,316		probably null	Het
Taar2	A	T	10: 23,940,976	H138L	probably benign	Het
Taf2	A	C	15: 55,058,901	L330R	probably damaging	Het
Tgm5	T	C	2: 121,070,729		probably null	Het
Tmed4	A	T	11: 6,274,491	Y56*	probably null	Het
Tmem156	A	T	5: 65,075,621	F135L	probably benign	Het
Ttll6	T	C	11: 96,134,887	S65P	probably damaging	Het
Ttn	C	T	2: 76,726,827	G28199R	probably damaging	Het
Ubn2	T	A	6: 38,470,224		probably null	Het
Unc80	A	T	1: 66,473,260	T110S	possibly damaging	Het
Vmn2r72	A	T	7: 85,737,929	V809E	probably damaging	Het
Zbtb2	A	G	10: 4,368,599	F476L	probably damaging	Het
Zbtb24	T	C	10: 41,464,401	F498L	probably damaging	Het
Zfp280d	T	A	9: 72,329,137	L494Q	probably damaging	Het
Zfp281	T	C	1: 136,626,726	S481P	probably benign	Het

Other mutations in Prss36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Prss36	APN	7	127944927	splice site	probably benign
IGL01473:Prss36	APN	7	127944701	missense	probably damaging	0.98
IGL03139:Prss36	APN	7	127933611	missense	probably damaging	1.00
R0111:Prss36	UTSW	7	127934545	missense	probably damaging	1.00
R0295:Prss36	UTSW	7	127935855	missense	possibly damaging	0.80
R1771:Prss36	UTSW	7	127933453	missense	probably damaging	1.00
R1827:Prss36	UTSW	7	127933492	missense	probably damaging	1.00
R3935:Prss36	UTSW	7	127934608	missense	probably damaging	1.00
R4257:Prss36	UTSW	7	127932838	unclassified	probably benign
R4694:Prss36	UTSW	7	127935615	missense	probably damaging	1.00
R5384:Prss36	UTSW	7	127936699	missense	probably damaging	1.00
R5464:Prss36	UTSW	7	127934233	missense	probably damaging	1.00
R5524:Prss36	UTSW	7	127934465	nonsense	probably null
R5749:Prss36	UTSW	7	127933642	missense	probably damaging	1.00
R5905:Prss36	UTSW	7	127933572	missense	probably benign	0.26
R5992:Prss36	UTSW	7	127944830	missense	probably damaging	1.00
R6033:Prss36	UTSW	7	127934567	missense	probably benign	0.07
R6971:Prss36	UTSW	7	127945238	missense	probably benign	0.15
R7050:Prss36	UTSW	7	127944765	missense	possibly damaging	0.71
R7232:Prss36	UTSW	7	127935591	missense	probably benign	0.07
R7271:Prss36	UTSW	7	127944705	missense	probably benign	0.10
R8679:Prss36	UTSW	7	127933463	missense	possibly damaging	0.89
R9232:Prss36	UTSW	7	127944816	missense	probably benign
R9327:Prss36	UTSW	7	127933398	nonsense	probably null
R9356:Prss36	UTSW	7	127946525	start gained	probably benign
R9433:Prss36	UTSW	7	127934167	missense	probably benign	0.01
R9471:Prss36	UTSW	7	127946433	missense	probably benign	0.01
R9577:Prss36	UTSW	7	127934501	missense	probably benign	0.45
Z1088:Prss36	UTSW	7	127934537	nonsense	probably null
Z1177:Prss36	UTSW	7	127933833	critical splice acceptor site	probably null

Predicted Primers

Posted On

2017-06-26