Mutagenetix > Incidental Mutation

Incidental Mutation 'R0116:Prss12'

189150

Institutional Source

Beutler Lab

Gene Symbol

Prss12

Ensembl Gene

ENSMUSG00000027978

Gene Name

serine protease 12 neurotrypsin (motopsin)

Synonyms

motopsin, Bssp-3

MMRRC Submission

038402-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R0116 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

123240562-123300246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123276423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 351 (C351R)

Ref Sequence

ENSEMBL: ENSMUSP00000029603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029603]

AlphaFold

O08762

Predicted Effect

probably damaging
Transcript: ENSMUST00000029603
AA Change: C351R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029603
Gene: ENSMUSG00000027978
AA Change: C351R

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	23	43	N/A	INTRINSIC
low complexity region	45	64	N/A	INTRINSIC
KR	83	159	2.07e-21	SMART
SR	166	266	4.68e-57	SMART
SR	273	372	9.67e-50	SMART
SR	386	486	3.55e-57	SMART
Tryp_SPc	516	755	6.38e-91	SMART

Meta Mutation Damage Score

0.9749

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

94% (95/101)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the trypsin family of serine proteases. Studies in mouse suggest that the encoded enzyme may be involved in structural reorganizations associated with learning and memory. The enzyme is also expressed in Leydig cells in the testis, but its function in this tissue is unknown. Defects in this gene are a cause of mental retardation autosomal recessive type 1 (MRT1). [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a targeted mutation display hypoactivity and increased anxiety. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, knock-out(2) Targeted, other(2)

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	T	9: 15,202,066 (GRCm39)	V152E	probably damaging	Het
Abca5	T	G	11: 110,167,331 (GRCm39)	E1495A	probably damaging	Het
Abcc12	G	A	8: 87,261,627 (GRCm39)	S668F	probably benign	Het
Adgrl4	A	T	3: 151,223,247 (GRCm39)	T608S	probably benign	Het
Angel2	G	A	1: 190,673,187 (GRCm39)	D255N	probably benign	Het
Apob	T	A	12: 8,039,113 (GRCm39)		probably benign	Het
Arfgef2	A	T	2: 166,715,603 (GRCm39)	R1349S	probably damaging	Het
Atp2b2	C	T	6: 113,770,656 (GRCm39)	V418I	probably damaging	Het
Birc6	C	A	17: 74,930,741 (GRCm39)		probably benign	Het
Capn13	T	A	17: 73,658,519 (GRCm39)	Y183F	probably damaging	Het
Cngb1	A	G	8: 95,987,266 (GRCm39)	S352P	probably damaging	Het
Col6a3	A	G	1: 90,741,273 (GRCm39)	S720P	probably damaging	Het
Cpa4	C	T	6: 30,579,657 (GRCm39)	R155W	probably damaging	Het
Dapk1	A	G	13: 60,908,914 (GRCm39)	I1176V	probably benign	Het
Dnah17	T	C	11: 117,949,132 (GRCm39)	E2959G	probably benign	Het
Dnah7b	T	A	1: 46,252,520 (GRCm39)	I1734N	possibly damaging	Het
Dnajb7	A	G	15: 81,291,555 (GRCm39)	Y261H	probably benign	Het
Dock2	T	C	11: 34,579,392 (GRCm39)		probably benign	Het
Dyrk3	A	T	1: 131,057,576 (GRCm39)	V199E	probably damaging	Het
F2r	G	T	13: 95,740,994 (GRCm39)	C180*	probably null	Het
F5	A	G	1: 164,012,483 (GRCm39)	S466G	probably benign	Het
Fbn2	A	T	18: 58,235,445 (GRCm39)	C677*	probably null	Het
Fbxo41	A	G	6: 85,454,890 (GRCm39)	S673P	probably damaging	Het
Fhad1	G	T	4: 141,667,406 (GRCm39)	H639N	probably benign	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Foxa2	A	G	2: 147,885,481 (GRCm39)	S270P	probably damaging	Het
Fxyd7	C	T	7: 30,746,793 (GRCm39)		probably null	Het
Gm5225	A	G	17: 24,243,032 (GRCm39)	D67G	probably benign	Het
Grik3	G	A	4: 125,564,349 (GRCm39)	E444K	probably benign	Het
Gsdma2	A	G	11: 98,540,009 (GRCm39)	K44E	probably damaging	Het
Haus1	T	A	18: 77,849,770 (GRCm39)	K130*	probably null	Het
Heg1	A	G	16: 33,556,028 (GRCm39)		probably benign	Het
Hormad2	A	G	11: 4,362,206 (GRCm39)		probably benign	Het
Hsd17b3	G	A	13: 64,206,403 (GRCm39)	R300C	possibly damaging	Het
Irf5	T	C	6: 29,536,108 (GRCm39)	F374S	probably damaging	Het
Itch	A	G	2: 155,059,903 (GRCm39)		probably benign	Het
Jade2	A	T	11: 51,722,136 (GRCm39)	L139Q	probably damaging	Het
Kif5c	G	A	2: 49,642,251 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,083,918 (GRCm39)	Y1387H	probably benign	Het
Larp4b	A	G	13: 9,220,724 (GRCm39)	R658G	probably damaging	Het
Mcph1	C	T	8: 18,838,264 (GRCm39)	L729F	probably benign	Het
Me1	A	T	9: 86,536,720 (GRCm39)	N118K	probably benign	Het
Med13	A	G	11: 86,210,723 (GRCm39)	L473S	probably damaging	Het
Mgam	T	A	6: 40,635,921 (GRCm39)	Y359N	probably damaging	Het
Morc2b	A	G	17: 33,356,015 (GRCm39)	S586P	probably damaging	Het
Mthfr	A	G	4: 148,135,980 (GRCm39)	D310G	probably benign	Het
Mtmr7	A	T	8: 41,034,447 (GRCm39)		probably benign	Het
Mtus1	A	G	8: 41,451,514 (GRCm39)		probably benign	Het
Mus81	G	T	19: 5,536,552 (GRCm39)	A138D	probably damaging	Het
Myom2	A	T	8: 15,167,633 (GRCm39)	I1073F	probably damaging	Het
Nhsl1	A	T	10: 18,400,990 (GRCm39)	K739*	probably null	Het
Nlrp4d	T	A	7: 10,108,818 (GRCm39)	K762N	probably benign	Het
Nrap	T	C	19: 56,343,978 (GRCm39)	Y724C	probably damaging	Het
Ogn	A	T	13: 49,774,514 (GRCm39)	Y219F	possibly damaging	Het
Or6c212	T	A	10: 129,558,846 (GRCm39)	D189V	probably damaging	Het
Or8b56	T	C	9: 38,739,860 (GRCm39)	L291P	probably damaging	Het
Or8g30	A	T	9: 39,230,160 (GRCm39)	I250N	probably damaging	Het
Padi2	T	C	4: 140,653,550 (GRCm39)	V180A	probably benign	Het
Papss2	C	T	19: 32,615,768 (GRCm39)	R167*	probably null	Het
Pcbp2	T	C	15: 102,382,670 (GRCm39)		probably benign	Het
Per1	T	A	11: 68,992,706 (GRCm39)		probably benign	Het
Pik3ca	T	C	3: 32,514,094 (GRCm39)	I860T	probably damaging	Het
Pkdrej	G	A	15: 85,701,746 (GRCm39)	Q1397*	probably null	Het
Plce1	T	C	19: 38,710,265 (GRCm39)	V1133A	probably benign	Het
Pnma8a	T	G	7: 16,694,625 (GRCm39)	V160G	probably damaging	Het
Qprt	A	T	7: 126,708,269 (GRCm39)	L54Q	probably damaging	Het
Raf1	C	T	6: 115,603,344 (GRCm39)	S165N	probably damaging	Het
Rere	A	G	4: 150,701,433 (GRCm39)	N1271S	probably benign	Het
Rnasel	T	A	1: 153,630,258 (GRCm39)	L258H	probably damaging	Het
Ryr2	T	C	13: 11,724,807 (GRCm39)	D2502G	probably damaging	Het
Ryr3	G	A	2: 112,633,510 (GRCm39)	S2081L	probably damaging	Het
Sc5d	G	T	9: 42,171,155 (GRCm39)	Y11*	probably null	Het
Slc25a29	A	C	12: 108,793,017 (GRCm39)	L187R	possibly damaging	Het
Slc2a7	G	A	4: 150,252,721 (GRCm39)	V454M	probably benign	Het
Slco1b2	A	T	6: 141,615,114 (GRCm39)	T340S	probably benign	Het
Smarcc1	A	G	9: 109,976,172 (GRCm39)	N153S	possibly damaging	Het
Snx1	C	A	9: 65,995,821 (GRCm39)	E516*	probably null	Het
Sptlc2	T	C	12: 87,403,454 (GRCm39)	D115G	probably benign	Het
Stard9	A	G	2: 120,464,736 (GRCm39)	N67S	probably damaging	Het
Styxl2	A	C	1: 165,927,270 (GRCm39)	S781A	probably benign	Het
Swap70	G	A	7: 109,872,489 (GRCm39)	R368H	probably benign	Het
Tcaf3	T	C	6: 42,568,284 (GRCm39)	K691E	probably benign	Het
Tmco4	T	C	4: 138,781,231 (GRCm39)	F465S	probably damaging	Het
Tmem245	A	G	4: 56,926,213 (GRCm39)	S290P	probably benign	Het
Top2a	T	C	11: 98,894,416 (GRCm39)	T972A	probably benign	Het
Tpr	T	A	1: 150,285,898 (GRCm39)	S527R	probably damaging	Het
Traf2	T	C	2: 25,409,621 (GRCm39)	D443G	probably damaging	Het
Trim40	A	T	17: 37,194,039 (GRCm39)		probably null	Het
Trim42	A	T	9: 97,245,456 (GRCm39)	I448N	possibly damaging	Het
Ttll9	G	A	2: 152,825,054 (GRCm39)	V78M	probably damaging	Het
Vav1	C	T	17: 57,603,039 (GRCm39)	L88F	probably damaging	Het
Vps13b	A	G	15: 35,423,301 (GRCm39)	D207G	probably damaging	Het
Wdsub1	A	G	2: 59,707,009 (GRCm39)		probably null	Het
Zfp799	A	G	17: 33,040,009 (GRCm39)	W85R	possibly damaging	Het
Zfp839	A	T	12: 110,825,203 (GRCm39)		probably benign	Het

Other mutations in Prss12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Prss12	APN	3	123,280,598 (GRCm39)	splice site	probably benign
IGL01090:Prss12	APN	3	123,276,388 (GRCm39)	missense	possibly damaging	0.85
IGL01609:Prss12	APN	3	123,276,483 (GRCm39)	missense	probably damaging	1.00
IGL02406:Prss12	APN	3	123,299,123 (GRCm39)	missense	possibly damaging	0.81
IGL02445:Prss12	APN	3	123,280,669 (GRCm39)	missense	probably damaging	1.00
IGL02928:Prss12	APN	3	123,280,805 (GRCm39)	missense	possibly damaging	0.51
IGL02970:Prss12	APN	3	123,276,411 (GRCm39)	missense	probably benign	0.03
IGL03116:Prss12	APN	3	123,299,925 (GRCm39)	missense	probably benign
IGL03149:Prss12	APN	3	123,299,036 (GRCm39)	missense	probably benign	0.00
nerd	UTSW	3	123,241,033 (GRCm39)	missense	probably benign	0.31
twerp	UTSW	3	123,276,423 (GRCm39)	missense	probably damaging	1.00
F5426:Prss12	UTSW	3	123,300,121 (GRCm39)	missense	probably damaging	1.00
P4717OSA:Prss12	UTSW	3	123,241,267 (GRCm39)	missense	probably damaging	1.00
PIT4576001:Prss12	UTSW	3	123,280,764 (GRCm39)	missense	probably damaging	1.00
R0528:Prss12	UTSW	3	123,276,445 (GRCm39)	missense	probably benign	0.00
R0762:Prss12	UTSW	3	123,279,153 (GRCm39)	missense	probably damaging	1.00
R1051:Prss12	UTSW	3	123,279,174 (GRCm39)	missense	probably null	0.99
R1916:Prss12	UTSW	3	123,300,144 (GRCm39)	missense	probably benign	0.07
R2185:Prss12	UTSW	3	123,280,793 (GRCm39)	missense	probably benign	0.01
R2389:Prss12	UTSW	3	123,280,670 (GRCm39)	missense	possibly damaging	0.63
R2938:Prss12	UTSW	3	123,280,625 (GRCm39)	missense	probably benign	0.00
R3118:Prss12	UTSW	3	123,298,976 (GRCm39)	missense	possibly damaging	0.92
R3119:Prss12	UTSW	3	123,298,976 (GRCm39)	missense	possibly damaging	0.92
R4080:Prss12	UTSW	3	123,279,134 (GRCm39)	missense	probably benign	0.44
R4161:Prss12	UTSW	3	123,279,176 (GRCm39)	nonsense	probably null
R4997:Prss12	UTSW	3	123,240,857 (GRCm39)	missense	probably benign	0.01
R5291:Prss12	UTSW	3	123,299,112 (GRCm39)	missense	probably damaging	0.98
R5597:Prss12	UTSW	3	123,258,389 (GRCm39)	missense	probably benign	0.18
R5941:Prss12	UTSW	3	123,299,150 (GRCm39)	missense	probably benign	0.01
R6005:Prss12	UTSW	3	123,276,417 (GRCm39)	missense	probably benign	0.00
R6119:Prss12	UTSW	3	123,283,258 (GRCm39)	missense	possibly damaging	0.64
R6430:Prss12	UTSW	3	123,273,243 (GRCm39)	missense	probably damaging	1.00
R6492:Prss12	UTSW	3	123,241,048 (GRCm39)	missense	probably benign
R6864:Prss12	UTSW	3	123,241,033 (GRCm39)	missense	probably benign	0.31
R7334:Prss12	UTSW	3	123,280,780 (GRCm39)	missense	probably benign
R7492:Prss12	UTSW	3	123,276,425 (GRCm39)	nonsense	probably null
R7669:Prss12	UTSW	3	123,241,045 (GRCm39)	missense	probably benign
R7898:Prss12	UTSW	3	123,300,145 (GRCm39)	missense	possibly damaging	0.55
R8206:Prss12	UTSW	3	123,258,611 (GRCm39)	splice site	probably null
R8835:Prss12	UTSW	3	123,285,201 (GRCm39)	missense	possibly damaging	0.47
R9035:Prss12	UTSW	3	123,279,149 (GRCm39)	missense	probably damaging	0.99
R9307:Prss12	UTSW	3	123,299,049 (GRCm39)	missense	probably benign	0.01
R9782:Prss12	UTSW	3	123,271,762 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- CAGCAAAGCAAGCACAGTTGAGTC -3'
(R):5'- ACATTCCAGACCACTGGTTGGAGG -3'

Sequencing Primer
(F):5'- AGCACAGTTGAGTCTCCAAG -3'
(R):5'- CCACTGGTTGGAGGAACAG -3'

Posted On

2014-05-13