Mutagenetix > Incidental Mutation

Incidental Mutation 'R5749:Prss36'

445920

Institutional Source

Beutler Lab

Gene Symbol

Prss36

Ensembl Gene

ENSMUSG00000070371

Gene Name

protease, serine 36

Synonyms

polyserase-2, C330007D15Rik

MMRRC Submission

043200-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127932638-127946725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127933642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 192 (I192F)

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 damaging
Transcript: ENSMUST00000094026
AA Change: I704F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091565
Gene: ENSMUSG00000070371
AA Change: I704F

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 damaging
Transcript: ENSMUST00000118755
AA Change: I693F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112659
Gene: ENSMUSG00000070371
AA Change: I693F

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

SMART Domains

Protein: ENSMUSP00000120544
Gene: ENSMUSG00000070371

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 damaging
Transcript: ENSMUST00000156152
AA Change: I192F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121706
Gene: ENSMUSG00000070371
AA Change: I192F

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	G	A	11: 54,324,055		probably null	Het
Ankrd12	T	C	17: 65,986,096	S781G	probably benign	Het
Bicc1	A	G	10: 70,946,969	S523P	probably benign	Het
Ccdc163	T	A	4: 116,714,112	C44*	probably null	Het
Ccdc83	T	C	7: 90,223,948	T400A	probably damaging	Het
Cobl	A	G	11: 12,266,965	S426P	possibly damaging	Het
Cyhr1	A	C	15: 76,658,644		probably null	Het
Cyp2b19	T	C	7: 26,763,419	I242T	possibly damaging	Het
Efnb2	A	C	8: 8,639,347	C92G	probably damaging	Het
Fam90a1a	T	A	8: 21,963,041	S137R	possibly damaging	Het
Fbxo17	G	A	7: 28,737,472	R284H	probably damaging	Het
Fem1b	A	G	9: 62,797,006	L324P	probably damaging	Het
Fsd1	T	A	17: 55,995,849		probably null	Het
Gtpbp4	A	G	13: 8,995,947		probably null	Het
Ifi209	A	C	1: 173,637,327	I8L	probably damaging	Het
Itga8	T	C	2: 12,262,078	E182G	probably damaging	Het
Itsn1	T	A	16: 91,906,855	L87H	probably damaging	Het
Klk1b16	T	C	7: 44,140,786	I160T	probably benign	Het
Lbp	T	A	2: 158,319,753	V52D	probably damaging	Het
Med23	T	C	10: 24,888,449	V318A	possibly damaging	Het
Myo16	C	T	8: 10,413,245	S604L	probably benign	Het
Olfr1113	C	T	2: 87,212,943	T17I	probably benign	Het
Olfr1448	A	G	19: 12,920,225	V28A	probably benign	Het
Olfr1510	T	A	14: 52,410,504	M123L	probably damaging	Het
Olfr768	A	T	10: 129,093,097	N292K	probably damaging	Het
Pcdh8	T	C	14: 79,770,085	D346G	probably damaging	Het
Ppara	A	T	15: 85,789,028	D140V	probably benign	Het
Prlr	T	A	15: 10,328,718	D426E	probably benign	Het
Psg25	T	C	7: 18,524,851	E300G	probably damaging	Het
Pxylp1	A	G	9: 96,856,371	F26L	possibly damaging	Het
Rapgef4	A	T	2: 72,242,757	T796S	probably damaging	Het
Stard9	A	G	2: 120,703,786	H3508R	probably damaging	Het
Tep1	T	A	14: 50,844,072	D1282V	possibly damaging	Het
Tgfbr3l	A	G	8: 4,249,310	E59G	probably damaging	Het
Tnik	T	C	3: 28,594,092	M431T	probably benign	Het
Tns3	A	T	11: 8,451,177	H1040Q	probably benign	Het
Usp10	G	A	8: 119,941,133	E58K	probably damaging	Het
Vmn2r23	A	G	6: 123,733,273	T512A	probably benign	Het
Vmn2r52	C	T	7: 10,159,032	D727N	probably damaging	Het
Vmn2r66	T	A	7: 85,006,771	K346*	probably null	Het
Vmn2r93	T	A	17: 18,298,284	F2I	probably benign	Het
Zfp697	T	C	3: 98,425,464	S69P	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
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
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

PCR Primer
(F):5'- GTCAGAATACCCGGATAGAGGC -3'
(R):5'- ACAACAGTGCCCTACATTGAAG -3'

Sequencing Primer
(F):5'- TGACAGAGTCGTGGTGTCAAG -3'
(R):5'- CCTACATTGAAGTATATCTTGGCCGG -3'

Posted On

2016-11-21