Mutagenetix > Incidental Mutation

Incidental Mutation 'R5941:Prss12'

460240

Institutional Source

Beutler Lab

Gene Symbol

Prss12

Ensembl Gene

ENSMUSG00000027978

Gene Name

serine protease 12 neurotrypsin (motopsin)

Synonyms

motopsin, Bssp-3

MMRRC Submission

044133-MU

Accession Numbers

Essential gene?

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

Stock #

R5941 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123240562-123300246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123299150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 641 (R641G)

Ref Sequence

ENSEMBL: ENSMUSP00000029603 (fasta)

Gene Model

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

AlphaFold

O08762

Predicted Effect

probably benign
Transcript: ENSMUST00000029603
AA Change: R641G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000029603
Gene: ENSMUSG00000027978
AA Change: R641G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174989

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196009

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196466

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199645

Meta Mutation Damage Score

0.1095

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.2%

Validation Efficiency

97% (95/98)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	A	7: 119,190,321 (GRCm39)	D70E	probably damaging	Het
Adamts14	C	T	10: 61,057,674 (GRCm39)	G561R	probably damaging	Het
Alpk3	A	T	7: 80,728,401 (GRCm39)	K510N	probably damaging	Het
Ap3b1	A	G	13: 94,576,781 (GRCm39)	N269D	probably benign	Het
Ap3b1	T	C	13: 94,619,773 (GRCm39)	S144P	probably damaging	Het
Apba2	C	A	7: 64,395,464 (GRCm39)	Q635K	probably benign	Het
Aspg	C	T	12: 112,079,519 (GRCm39)	T99I	probably benign	Het
Atp7b	A	G	8: 22,487,512 (GRCm39)	V1179A	probably damaging	Het
Bbs12	T	C	3: 37,374,197 (GRCm39)	V215A	probably damaging	Het
Bcl2l11	C	A	2: 127,969,703 (GRCm39)		probably benign	Het
Bglap3	T	G	3: 88,283,653 (GRCm39)		probably benign	Het
Cchcr1	G	A	17: 35,835,890 (GRCm39)	R284Q	probably damaging	Het
Cdh26	C	T	2: 178,123,443 (GRCm39)	Q662*	probably null	Het
Cftr	T	A	6: 18,313,645 (GRCm39)	F1290I	probably damaging	Het
Clip3	G	A	7: 29,991,731 (GRCm39)	E36K	probably damaging	Het
Cog2	A	G	8: 125,272,825 (GRCm39)	I541V	probably benign	Het
Cpt1b	A	T	15: 89,309,417 (GRCm39)	W39R	probably damaging	Het
Csmd1	A	G	8: 15,982,471 (GRCm39)	V2732A	probably damaging	Het
Dlec1	A	G	9: 118,955,380 (GRCm39)	D688G	probably damaging	Het
Dnah12	A	G	14: 26,428,022 (GRCm39)	E216G	probably benign	Het
Dnah7b	C	A	1: 46,226,450 (GRCm39)	L1294I	probably damaging	Het
Duox1	T	A	2: 122,174,637 (GRCm39)	L1265Q	probably damaging	Het
Fam91a1	T	A	15: 58,303,166 (GRCm39)	D358E	probably benign	Het
Fat3	A	C	9: 15,910,797 (GRCm39)	I1735S	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gabrr1	T	A	4: 33,162,676 (GRCm39)	M414K	probably benign	Het
Gm21915	A	C	9: 40,581,995 (GRCm39)	E29D	possibly damaging	Het
Gm9955	G	A	18: 24,842,320 (GRCm39)		probably benign	Het
Gpat2	C	A	2: 127,270,195 (GRCm39)	D69E	possibly damaging	Het
Grin2b	T	G	6: 135,713,371 (GRCm39)	I837L	probably damaging	Het
Gucy2g	T	C	19: 55,203,563 (GRCm39)	D745G	probably damaging	Het
H2-Q1	A	G	17: 35,540,332 (GRCm39)	Y139C	probably damaging	Het
Ints2	G	C	11: 86,141,798 (GRCm39)	N216K	probably benign	Het
Jmy	G	A	13: 93,635,333 (GRCm39)	P161L	probably benign	Het
Kctd11	G	A	11: 69,770,799 (GRCm39)	R80W	possibly damaging	Het
Kif7	A	G	7: 79,360,880 (GRCm39)		probably benign	Het
Kifc1	C	T	17: 34,102,059 (GRCm39)		probably benign	Het
Lcor	G	A	19: 41,574,839 (GRCm39)	R1198Q	probably damaging	Het
Mir412	C	A	12: 109,709,733 (GRCm39)		noncoding transcript	Het
Mknk1	T	A	4: 115,733,834 (GRCm39)		probably benign	Het
Mmp16	A	G	4: 18,054,354 (GRCm39)		probably benign	Het
Mmp7	A	G	9: 7,697,646 (GRCm39)	H227R	probably damaging	Het
Myh4	A	C	11: 67,150,126 (GRCm39)	D1861A	probably damaging	Het
Nup205	T	C	6: 35,209,343 (GRCm39)	L1550P	probably damaging	Het
Or10g1	C	T	14: 52,647,525 (GRCm39)	G268D	probably benign	Het
Or2a56	G	T	6: 42,932,650 (GRCm39)	A73S	possibly damaging	Het
Or4c113	T	A	2: 88,884,963 (GRCm39)	H269L	probably benign	Het
Or4c58	T	A	2: 89,674,859 (GRCm39)	I153F	probably benign	Het
Or51af1	A	G	7: 103,141,927 (GRCm39)	S53P	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pafah1b2	A	T	9: 45,887,405 (GRCm39)	C35*	probably null	Het
Pappa	T	A	4: 65,232,830 (GRCm39)	F1323Y	possibly damaging	Het
Phtf2	A	T	5: 20,979,071 (GRCm39)	F519Y	probably damaging	Het
Pigk	T	C	3: 152,472,150 (GRCm39)	I354T	possibly damaging	Het
Plekha7	T	C	7: 115,724,040 (GRCm39)	D1265G	possibly damaging	Het
Prss28	A	G	17: 25,528,717 (GRCm39)	Y53C	probably damaging	Het
Rabgap1	G	T	2: 37,451,908 (GRCm39)	C936F	possibly damaging	Het
Rap1a	T	C	3: 105,639,385 (GRCm39)	I91M	possibly damaging	Het
Rap1gap2	A	T	11: 74,283,063 (GRCm39)	M679K	probably damaging	Het
Rapgef5	T	A	12: 117,692,473 (GRCm39)	L352I	probably damaging	Het
Rhbdl3	G	A	11: 80,222,715 (GRCm39)	V255M	probably benign	Het
Rhot1	T	C	11: 80,141,996 (GRCm39)		probably benign	Het
Rita1	A	C	5: 120,747,626 (GRCm39)	V224G	probably benign	Het
Ryr2	T	A	13: 11,702,788 (GRCm39)	Y2900F	probably damaging	Het
Scaf11	A	C	15: 96,318,189 (GRCm39)	H458Q	probably damaging	Het
Scamp4	T	A	10: 80,448,255 (GRCm39)	S159T	probably benign	Het
Setd5	T	A	6: 113,105,451 (GRCm39)	Y828N	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Sipa1l2	A	G	8: 126,200,275 (GRCm39)	S684P	probably damaging	Het
Stard9	A	T	2: 120,544,039 (GRCm39)	I4446F	probably damaging	Het
Sult1c2	T	C	17: 54,138,926 (GRCm39)	D217G	probably benign	Het
Supt16	C	A	14: 52,419,653 (GRCm39)	K148N	probably benign	Het
Syne3	G	A	12: 104,913,251 (GRCm39)	S570L	probably benign	Het
Tcf3	G	T	10: 80,248,878 (GRCm39)	D534E	probably benign	Het
Tmed6	G	T	8: 107,790,786 (GRCm39)	T87K	probably damaging	Het
Trbv3	T	C	6: 41,025,335 (GRCm39)	I3T	probably benign	Het
Trbv4	T	A	6: 41,036,563 (GRCm39)	Y29*	probably null	Het
Ttl	A	G	2: 128,917,904 (GRCm39)	N122S	probably benign	Het
Txndc11	T	C	16: 10,892,935 (GRCm39)	T932A	probably benign	Het
Ube2e2	G	A	14: 18,586,910 (GRCm38)	A150V	probably damaging	Het
Ube2ql1	T	C	13: 69,887,459 (GRCm39)	M1V	probably null	Het
Uqcrc1	A	G	9: 108,776,554 (GRCm39)		probably benign	Het
Utrn	T	C	10: 12,362,227 (GRCm39)	D2702G	probably damaging	Het
Vcan	T	A	13: 89,840,810 (GRCm39)	D618V	probably damaging	Het
Vdac3-ps1	A	G	13: 18,205,787 (GRCm39)		noncoding transcript	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Zap70	G	A	1: 36,810,030 (GRCm39)	V47M	probably damaging	Het
Zfp770	A	G	2: 114,028,027 (GRCm39)	M14T	possibly damaging	Het
Zup1	C	T	10: 33,825,458 (GRCm39)	G8D	probably damaging	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
R0116:Prss12	UTSW	3	123,276,423 (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
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'- TGGTACCAGAGGAGTTTGAAC -3'
(R):5'- CTAAGCTTAAGCCCACCTAAGG -3'

Sequencing Primer
(F):5'- AGTTTGAACAAGAAATAGGGGTTC -3'
(R):5'- AGGCCGTGATTCTCAATCCTAATG -3'

Posted On

2017-02-28