Mutagenetix > Incidental Mutation

Incidental Mutation 'R6971:Prss36'

542248

Institutional Source

Beutler Lab

Gene Symbol

Prss36

Ensembl Gene

ENSMUSG00000070371

Gene Name

protease, serine 36

Synonyms

polyserase-2, C330007D15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6971 (G1)

Quality Score

204.009

Status

Validated

Chromosome

Chromosomal Location

127932638-127946725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127945238 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 92 (T92A)

Ref Sequence

ENSEMBL: ENSMUSP00000112659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094026] [ENSMUST00000118755]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000094026
AA Change: T92A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000091565
Gene: ENSMUSG00000070371
AA Change: T92A

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: T92A

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112659
Gene: ENSMUSG00000070371
AA Change: T92A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.1%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	T	10: 87,165,041	T32S	possibly damaging	Het
2210408I21Rik	A	G	13: 77,193,187	S52G	possibly damaging	Het
Aadacl4	G	A	4: 144,622,733	V187M	probably damaging	Het
Adprhl1	T	A	8: 13,223,476	Q1094L	probably benign	Het
Amigo1	C	T	3: 108,188,136	S317L	probably benign	Het
Brca1	A	G	11: 101,534,005	F32L	probably benign	Het
C1qtnf7	T	A	5: 43,609,050		probably null	Het
Ccdc88c	A	T	12: 100,954,227	D378E	probably damaging	Het
Ccdc97	G	T	7: 25,714,959	Y123*	probably null	Het
Cdk10	T	A	8: 123,227,674	M46K	probably damaging	Het
Dsc3	A	G	18: 19,966,218		probably null	Het
Ephx3	T	A	17: 32,188,203	N254Y	possibly damaging	Het
Fnip2	G	A	3: 79,481,121	R768*	probably null	Het
Glra1	A	T	11: 55,536,499	Y3*	probably null	Het
Gltpd2	A	G	11: 70,520,464	T194A	probably damaging	Het
Hectd1	A	T	12: 51,748,743	L2301*	probably null	Het
Hmcn1	T	A	1: 150,993,051	M1L	probably benign	Het
Hmcn2	G	A	2: 31,432,321	E4133K	probably benign	Het
Hps3	A	T	3: 20,011,535	L714I	probably damaging	Het
Igfbpl1	A	G	4: 45,816,333	V164A	possibly damaging	Het
Ip6k2	T	C	9: 108,797,311		probably benign	Het
Itgb8	A	T	12: 119,190,631	Y224N	probably damaging	Het
Kcnt2	T	C	1: 140,512,908	L624S	probably benign	Het
Mdga2	A	G	12: 66,550,561	Y720H	probably damaging	Het
Mier2	G	A	10: 79,542,429	H385Y	possibly damaging	Het
Msl2	T	C	9: 101,100,843	F139L	probably benign	Het
Nuggc	T	C	14: 65,608,856	V72A	probably benign	Het
Olfr826	A	T	10: 130,180,769	V37E	possibly damaging	Het
Pde2a	T	A	7: 101,510,313	Y783*	probably null	Het
Pfkfb2	A	G	1: 130,700,796	Y358H	probably damaging	Het
Pou2f1	A	G	1: 165,931,689	S23P	probably damaging	Het
Prrc2a	T	C	17: 35,159,501		probably null	Het
Rnft2	A	G	5: 118,194,570		probably benign	Het
Sbno2	A	G	10: 80,060,034	V971A	possibly damaging	Het
Sec63	A	G	10: 42,783,442	E42G	probably damaging	Het
Setdb2	A	T	14: 59,415,740	L371Q	probably damaging	Het
Shprh	A	T	10: 11,166,693	I807F	probably damaging	Het
Slc3a2	T	C	19: 8,709,610		probably null	Het
Srbd1	T	C	17: 86,099,290	I556V	possibly damaging	Het
Stim2	T	A	5: 54,118,299	C605*	probably null	Het
Tecrl	T	C	5: 83,354,802	T67A	possibly damaging	Het
Ttc33	C	A	15: 5,212,042	A116E	probably damaging	Het
Ttn	G	A	2: 76,942,049	T2503I	possibly damaging	Het
Ubp1	T	C	9: 113,972,763	I468T	probably damaging	Het
Urgcp	A	T	11: 5,718,115	H74Q	probably benign	Het
Vcan	A	G	13: 89,678,133	I2224T	probably damaging	Het
Vmn1r8	T	A	6: 57,036,415	N150K	probably damaging	Het
Vmn2r3	A	G	3: 64,259,247	M821T	probably damaging	Het
Zfp777	C	A	6: 48,024,691	A866S	probably damaging	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
R6033:Prss36	UTSW	7	127934567	missense	probably benign	0.07
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

PCR Primer
(F):5'- TCACCGTGGAAGTCGAAAG -3'
(R):5'- CTCTGGAGTCCAAGGGATTAGG -3'

Sequencing Primer
(F):5'- GGGTCAAATAGGACTTGGAGATGTC -3'
(R):5'- AACCGAGCTTTGACTTCTAGG -3'

Posted On

2018-11-28