Mutagenetix > Incidental Mutation

Incidental Mutation 'R9307:Prss12'

705257

Institutional Source

Beutler Lab

Gene Symbol

Prss12

Ensembl Gene

ENSMUSG00000027978

Gene Name

serine protease 12 neurotrypsin (motopsin)

Synonyms

motopsin, Bssp-3

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123240562-123300246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123299049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 607 (D607G)

Ref Sequence

ENSEMBL: ENSMUSP00000029603 (fasta)

Gene Model

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

AlphaFold

O08762

Predicted Effect

probably benign
Transcript: ENSMUST00000029603
AA Change: D607G

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

SMART Domains

Protein: ENSMUSP00000029603
Gene: ENSMUSG00000027978
AA Change: D607G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	C	3: 137,771,183 (GRCm39)	D124A	probably benign	Het
Acd	T	C	8: 106,425,514 (GRCm39)	D273G	probably damaging	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam15	T	C	3: 89,254,790 (GRCm39)	D90G	possibly damaging	Het
Adam2	A	T	14: 66,287,921 (GRCm39)	C392S	probably damaging	Het
Adam23	T	A	1: 63,576,131 (GRCm39)	N304K	probably damaging	Het
Adam34l	A	C	8: 44,079,304 (GRCm39)	F307V	probably benign	Het
Aldh3b3	T	C	19: 4,013,882 (GRCm39)	F28L	probably damaging	Het
Bsn	A	G	9: 107,992,993 (GRCm39)	S920P	probably benign	Het
Btc	A	G	5: 91,550,515 (GRCm39)		probably null	Het
Chchd2	A	T	5: 129,916,054 (GRCm39)	V12E	probably benign	Het
Chia1	A	G	3: 106,035,991 (GRCm39)		probably benign	Het
Chil4	A	T	3: 106,111,382 (GRCm39)		probably null	Het
Clock	A	G	5: 76,364,671 (GRCm39)	F815L	unknown	Het
Cmtr2	C	T	8: 110,949,712 (GRCm39)	T674M	probably benign	Het
Cnbd1	A	C	4: 18,887,647 (GRCm39)	I289R	probably damaging	Het
Cog2	A	T	8: 125,253,837 (GRCm39)		probably null	Het
Col13a1	T	C	10: 61,703,248 (GRCm39)	I454V	unknown	Het
Cyct	T	A	2: 76,184,457 (GRCm39)	Y98F	probably benign	Het
Dcaf6	T	C	1: 165,227,236 (GRCm39)	E297G	possibly damaging	Het
Dgka	T	C	10: 128,567,046 (GRCm39)	H271R	probably damaging	Het
Dnah9	T	A	11: 65,976,300 (GRCm39)	I1250F	probably benign	Het
Dock4	T	C	12: 40,686,155 (GRCm39)	L130P	probably damaging	Het
Dpyd	G	A	3: 119,108,560 (GRCm39)	V868I	probably benign	Het
Dync1li1	T	A	9: 114,535,076 (GRCm39)	D113E	probably damaging	Het
Fat3	T	C	9: 15,932,719 (GRCm39)	K1405E	probably damaging	Het
Fbn2	A	G	18: 58,342,856 (GRCm39)	C8R	probably benign	Het
Frmd4a	A	G	2: 4,609,044 (GRCm39)	M971V	probably benign	Het
Glyatl3	C	T	17: 41,223,553 (GRCm39)		probably null	Het
Grip1	A	T	10: 119,821,454 (GRCm39)	H373L	probably benign	Het
Ins1	T	C	19: 52,253,258 (GRCm39)	L66P	possibly damaging	Het
Kif21b	A	T	1: 136,101,800 (GRCm39)	I1616L	probably benign	Het
Map7d1	A	G	4: 126,128,024 (GRCm39)	M637T	unknown	Het
Mc2r	A	T	18: 68,540,636 (GRCm39)	M219K	probably benign	Het
Mcpt1	A	G	14: 56,256,867 (GRCm39)	D135G	possibly damaging	Het
Mturn	T	C	6: 54,676,541 (GRCm39)		probably null	Het
Mutyh	T	A	4: 116,674,074 (GRCm39)		probably null	Het
Myh3	A	G	11: 66,984,397 (GRCm39)	D1078G	possibly damaging	Het
Or4d5	T	C	9: 40,012,451 (GRCm39)	I112V	probably benign	Het
Pcdha12	A	G	18: 37,153,874 (GRCm39)	K198E	probably damaging	Het
Pcf11	A	T	7: 92,306,534 (GRCm39)	N1211K	possibly damaging	Het
Piezo1	G	A	8: 123,213,832 (GRCm39)	P1711S		Het
Pkd1	T	A	17: 24,769,451 (GRCm39)	L72Q	possibly damaging	Het
Pramel20	C	A	4: 143,299,314 (GRCm39)	L326I	probably damaging	Het
R3hdml	T	C	2: 163,344,372 (GRCm39)	*254R	probably null	Het
Rasal3	TTGGACCTGAGTGGA	TTGGA	17: 32,612,502 (GRCm39)	782	probably null	Het
Relch	A	T	1: 105,615,077 (GRCm39)	Y272F	probably benign	Het
Rev3l	C	T	10: 39,693,149 (GRCm39)	P410S	probably benign	Het
Sec14l2	A	G	11: 4,068,665 (GRCm39)	V5A	probably benign	Het
Slc12a3	A	C	8: 95,061,625 (GRCm39)	I291L	probably benign	Het
Slc4a10	T	C	2: 62,083,662 (GRCm39)	F372L	probably damaging	Het
Spta1	T	C	1: 174,035,978 (GRCm39)	W1095R	probably damaging	Het
Synj1	T	C	16: 90,785,095 (GRCm39)	T254A	probably damaging	Het
Taar2	T	C	10: 23,817,237 (GRCm39)	F259S	probably damaging	Het
Tns2	C	A	15: 102,018,996 (GRCm39)	L396I	probably damaging	Het
Tom1l1	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	11: 90,540,648 (GRCm39)		probably benign	Het
Traf5	T	C	1: 191,747,033 (GRCm39)	D96G	probably damaging	Het
Trgv3	A	G	13: 19,427,441 (GRCm39)	E108G	probably damaging	Het
Trpv6	A	G	6: 41,602,378 (GRCm39)	V336A	probably benign	Het
Usp45	A	T	4: 21,824,998 (GRCm39)	L583F	probably damaging	Het
Utrn	T	C	10: 12,554,475 (GRCm39)	D1538G	probably benign	Het
Vmn1r209	T	A	13: 22,990,072 (GRCm39)	H206L	probably damaging	Het
Zfp51	T	A	17: 21,684,733 (GRCm39)	H449Q	probably benign	Het
Zfp653	G	A	9: 21,969,321 (GRCm39)	S315F	possibly 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
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
R9782:Prss12	UTSW	3	123,271,762 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- TGGCTAAGTTTGCTAAAGGACAGG -3'
(R):5'- CCAAATGCTGTCAAGTTTTCTTCG -3'

Sequencing Primer
(F):5'- AGTTTGCTAAAGGACAGGATTTG -3'
(R):5'- GCTGTCAAGTTTTCTTCGATTGTTTC -3'

Posted On

2022-03-25