Mutagenetix > Incidental Mutation

Incidental Mutation 'R8835:Prss12'

674069

Institutional Source

Beutler Lab

Gene Symbol

Prss12

Ensembl Gene

ENSMUSG00000027978

Gene Name

serine protease 12 neurotrypsin (motopsin)

Synonyms

motopsin, Bssp-3

MMRRC Submission

068663-MU

Accession Numbers

Essential gene?

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

Stock #

R8835 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123240562-123300246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 123285201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 542 (D542A)

Ref Sequence

ENSEMBL: ENSMUSP00000029603 (fasta)

Gene Model

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

AlphaFold

O08762

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029603
AA Change: D542A

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029603
Gene: ENSMUSG00000027978
AA Change: D542A

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: 99.6%
20x: 98.9%

Validation Efficiency

99% (67/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	C	3: 121,896,433 (GRCm39)	G555A	probably benign	Het
Afmid	A	G	11: 117,718,914 (GRCm39)	K15E	probably benign	Het
Ankfn1	T	C	11: 89,429,379 (GRCm39)	I2V	probably benign	Het
Arhgap21	A	T	2: 20,972,144 (GRCm39)	C26*	probably null	Het
Arhgef38	A	T	3: 132,837,832 (GRCm39)	D699E	unknown	Het
Atxn2	T	C	5: 121,940,248 (GRCm39)	S1008P	possibly damaging	Het
C1rb	A	G	6: 124,552,217 (GRCm39)	K312E	probably benign	Het
Cc2d1b	G	A	4: 108,484,264 (GRCm39)	R424Q	probably damaging	Het
Ccdc27	G	A	4: 154,127,023 (GRCm39)	T13I	unknown	Het
Cdc42bpa	G	T	1: 179,896,916 (GRCm39)	V400F	probably damaging	Het
Cemip	C	A	7: 83,586,651 (GRCm39)	G1301V	probably damaging	Het
Cep170	A	G	1: 176,584,429 (GRCm39)	L650P	probably benign	Het
Cfap100	T	A	6: 90,386,597 (GRCm39)	D222V		Het
Cog8	A	T	8: 107,773,920 (GRCm39)		probably benign	Het
Col4a4	A	G	1: 82,447,313 (GRCm39)	L1279P	unknown	Het
Cyyr1	A	T	16: 85,254,553 (GRCm39)	Y116*	probably null	Het
Dlgap4	A	T	2: 156,587,946 (GRCm39)	S597C	probably damaging	Het
Dpysl5	T	A	5: 30,936,282 (GRCm39)		probably null	Het
Dtl	G	T	1: 191,293,609 (GRCm39)	H189Q	probably damaging	Het
Epha1	A	T	6: 42,342,723 (GRCm39)	N275K	probably benign	Het
Fbxo11	A	G	17: 88,321,874 (GRCm39)	C110R		Het
Fhod1	A	G	8: 106,065,484 (GRCm39)		probably null	Het
Fndc1	A	C	17: 7,958,111 (GRCm39)	F1712C	probably damaging	Het
Gcnt7	G	A	2: 172,295,957 (GRCm39)	T289M	probably damaging	Het
Gm11020	A	T	8: 105,048,293 (GRCm39)	E32V	probably null	Het
Hoxb1	C	T	11: 96,256,627 (GRCm39)		probably benign	Het
Ibtk	G	A	9: 85,619,563 (GRCm39)	L126F	possibly damaging	Het
Il17rb	T	G	14: 29,722,308 (GRCm39)	E241A	possibly damaging	Het
Kdm3b	G	A	18: 34,941,802 (GRCm39)	R631Q	probably damaging	Het
Lnpep	A	T	17: 17,750,118 (GRCm39)	S991T	possibly damaging	Het
Mctp2	T	G	7: 71,852,161 (GRCm39)	E455A	probably benign	Het
Mgat4a	A	T	1: 37,491,372 (GRCm39)	I421N	possibly damaging	Het
Myof	C	A	19: 37,955,547 (GRCm39)	V526L	possibly damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nav2	G	A	7: 49,248,551 (GRCm39)	G2297D	possibly damaging	Het
Nipa2	A	T	7: 55,583,307 (GRCm39)		probably benign	Het
Nkx6-1	G	T	5: 101,811,971 (GRCm39)	P44T	unknown	Het
Nploc4	T	C	11: 120,309,122 (GRCm39)	K160R	possibly damaging	Het
Olfm3	C	A	3: 114,916,061 (GRCm39)	A331D	probably damaging	Het
Or10g6	A	C	9: 39,934,171 (GRCm39)	S161R	possibly damaging	Het
Or1e33	T	A	11: 73,738,702 (GRCm39)	H83L	probably benign	Het
Or52s1	T	A	7: 102,861,928 (GRCm39)	I287K	probably damaging	Het
Otof	T	C	5: 30,528,264 (GRCm39)	N1898S	probably benign	Het
Pde1a	G	A	2: 79,708,522 (GRCm39)	L299F	probably damaging	Het
Pole	T	C	5: 110,454,775 (GRCm39)	Y1003H	probably damaging	Het
Ppl	C	G	16: 4,906,854 (GRCm39)	R1147P	probably damaging	Het
Prom1	T	G	5: 44,175,722 (GRCm39)	Y533S	probably damaging	Het
Prrt4	C	A	6: 29,169,986 (GRCm39)	C822F	probably damaging	Het
Ptrh2	T	C	11: 86,580,412 (GRCm39)	Y10H	probably damaging	Het
Pum1	C	T	4: 130,471,064 (GRCm39)	T439M	probably damaging	Het
Rarb	A	T	14: 16,575,011 (GRCm38)	F2I	probably benign	Het
Rpp21	G	A	17: 36,566,678 (GRCm39)	S127L	probably benign	Het
Scgb1b19	T	G	7: 32,986,948 (GRCm39)	V33G	probably damaging	Het
Smc1b	A	T	15: 85,013,949 (GRCm39)	V74D	possibly damaging	Het
Spint3	T	A	2: 164,411,923 (GRCm39)	K29*	probably null	Het
Spns1	G	A	7: 125,971,593 (GRCm39)	S319F	possibly damaging	Het
Tacc2	T	A	7: 130,228,258 (GRCm39)	W1648R	probably benign	Het
Tbc1d21	C	G	9: 58,273,991 (GRCm39)	V62L	probably damaging	Het
Tectb	A	G	19: 55,172,270 (GRCm39)	N130S	probably benign	Het
Tln2	A	T	9: 67,304,975 (GRCm39)		probably benign	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tpd52l1	G	T	10: 31,255,314 (GRCm39)	T11K	probably benign	Het
Ttll10	G	T	4: 156,133,055 (GRCm39)	P10T	probably benign	Het
Vmn1r215	A	G	13: 23,260,409 (GRCm39)	I150V	possibly damaging	Het
Zdhhc11	T	A	13: 74,127,411 (GRCm39)	Y263N	probably damaging	Het
Zfp354a	C	T	11: 50,960,628 (GRCm39)	R279*	probably null	Het
Zfp715	A	G	7: 42,948,430 (GRCm39)	I510T		Het
Zfp735	A	T	11: 73,601,692 (GRCm39)	H212L	possibly damaging	Het
Zfpm1	A	G	8: 123,063,772 (GRCm39)	T944A	unknown	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
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'- GCACATCATTCTCCATGTGGG -3'
(R):5'- AACAGAGTTGCTTCCCAAGGC -3'

Sequencing Primer
(F):5'- GAAGGACCGAATGGCTCCACTC -3'
(R):5'- TACGCAGTGCCACAGAGC -3'

Posted On

2021-07-15