Mutagenetix > Incidental Mutations

Incidental Mutation 'R1691:Prss23'

191786

Institutional Source

Beutler Lab

Gene Symbol

Prss23

Ensembl Gene

ENSMUSG00000039405

Gene Name

protease, serine 23

Synonyms

2310046G15Rik

MMRRC Submission

039724-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1691 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89507783-89527187 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89510714 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 49 (K49R)

Ref Sequence

ENSEMBL: ENSMUSP00000146389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041761] [ENSMUST00000207538] [ENSMUST00000207636] [ENSMUST00000207932] [ENSMUST00000208402] [ENSMUST00000208888] [ENSMUST00000208903]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000032858

Predicted Effect

probably benign
Transcript: ENSMUST00000041761
AA Change: K49R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045191
Gene: ENSMUSG00000039405
AA Change: K49R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	48	57	N/A	INTRINSIC
Tryp_SPc	137	372	2.87e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179361

Predicted Effect

probably benign
Transcript: ENSMUST00000207538
AA Change: K49R

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000207636
AA Change: K49R

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000207932
AA Change: K49R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000208402
AA Change: K49R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208814

Predicted Effect

probably benign
Transcript: ENSMUST00000208888
AA Change: K49R

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000208903
AA Change: K49R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209064

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209118

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved member of the trypsin family of serine proteases. Mouse studies found a decrease of mRNA levels of this gene after ovulation was induced. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	T	C	7: 82,499,606	S283P	probably damaging	Het
Adck2	T	A	6: 39,574,968	L223*	probably null	Het
Ank	T	C	15: 27,590,944	W390R	probably damaging	Het
Ano5	T	C	7: 51,590,579	Y752H	probably damaging	Het
Apcs	T	A	1: 172,894,593	D62V	probably damaging	Het
Atad5	A	G	11: 80,095,532	T482A	probably benign	Het
Atp7b	A	G	8: 22,011,023	Y955H	possibly damaging	Het
Ccdc13	A	T	9: 121,825,068		probably null	Het
Ccdc157	G	A	11: 4,149,030	P159S	probably benign	Het
Cdhr3	C	T	12: 33,082,247	V126M	probably damaging	Het
Cdr1	T	C	X: 61,184,174	D462G	possibly damaging	Het
Cisd1	A	G	10: 71,344,729	V9A	probably benign	Het
Col19a1	T	C	1: 24,536,941	R107G	unknown	Het
Col1a2	C	A	6: 4,536,038	H972Q	unknown	Het
Col3a1	T	A	1: 45,348,616		probably benign	Het
Dbnl	A	G	11: 5,797,174	S235G	probably null	Het
Dock4	T	A	12: 40,725,755	S566T	probably benign	Het
Efcab6	T	C	15: 83,933,206	D722G	probably benign	Het
Esyt1	T	C	10: 128,525,534	Q97R	probably benign	Het
Fam196a	C	T	7: 134,918,286	A172T	probably damaging	Het
Fat2	G	A	11: 55,311,852	T132I	probably damaging	Het
Fgd2	C	T	17: 29,378,944	Q618*	probably null	Het
Flnc	T	A	6: 29,441,214	V389E	probably benign	Het
Garnl3	A	T	2: 32,997,663	Y778*	probably null	Het
Gpaa1	A	T	15: 76,332,216	Y45F	probably damaging	Het
Grid1	A	T	14: 35,452,329	I643F	probably damaging	Het
Gsdmc2	T	C	15: 63,833,465	D133G	probably damaging	Het
Hp	T	C	8: 109,575,572	D248G	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ifna13	T	C	4: 88,644,054	D111G	probably benign	Het
Il9r	T	A	11: 32,191,829	Q309L	possibly damaging	Het
Ints1	A	T	5: 139,768,932	D617E	probably damaging	Het
Kcnj12	A	T	11: 61,070,277	N467I	possibly damaging	Het
Kmt2e	T	A	5: 23,464,849	D111E	probably damaging	Het
Lama4	A	G	10: 39,080,563	K1161E	probably benign	Het
Lamc1	C	T	1: 153,247,249	D732N	probably benign	Het
Larp1	A	G	11: 58,048,048	T517A	probably benign	Het
Lrp12	A	G	15: 39,872,265	I757T	probably damaging	Het
Max	T	C	12: 76,953,272	D23G	possibly damaging	Het
Nars	A	T	18: 64,516,414		probably null	Het
Nipsnap3a	G	A	4: 52,994,185	D91N	probably null	Het
Nphp3	A	G	9: 104,002,811	T11A	probably benign	Het
Nr2c2	C	A	6: 92,156,692	T226K	probably damaging	Het
Nrxn1	A	G	17: 90,162,289	I1288T	probably damaging	Het
Nt5c1b	C	T	12: 10,375,537	T360I	possibly damaging	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr1281	G	A	2: 111,328,853	V145I	probably benign	Het
Olfr1505	C	T	19: 13,919,419	T133I	probably benign	Het
Olfr1508	A	T	14: 52,463,831	H59Q	possibly damaging	Het
Olfr214	A	G	6: 116,556,577	T51A	probably benign	Het
Olfr516	A	G	7: 108,845,141	Y290H	possibly damaging	Het
Olfr532	A	T	7: 140,418,942	L277Q	probably damaging	Het
Pcsk1	A	G	13: 75,132,225	D723G	possibly damaging	Het
Phrf1	C	A	7: 141,261,874	Y715*	probably null	Het
Pigm	T	C	1: 172,376,787	V30A	probably benign	Het
Pkd1l2	A	T	8: 117,056,419	F721I	possibly damaging	Het
Pla2g15	A	G	8: 106,154,949	D70G	possibly damaging	Het
Prl7d1	A	T	13: 27,709,382	I182N	probably damaging	Het
Rps6	A	T	4: 86,856,809	D19E	probably benign	Het
Slco6d1	A	T	1: 98,507,567	H669L	probably benign	Het
Svil	G	T	18: 5,056,336	C490F	probably benign	Het
Tom1	T	C	8: 75,051,599	I103T	probably damaging	Het
Trim10	T	A	17: 36,876,899	Y336N	probably damaging	Het
Trim43c	G	T	9: 88,840,699	V133F	probably damaging	Het
Tvp23a	A	G	16: 10,428,687	L78P	possibly damaging	Het
Ugt2b38	T	A	5: 87,424,132	I14L	probably benign	Het
Unc5a	A	C	13: 55,002,924	M520L	probably damaging	Het
Vmn1r174	T	A	7: 23,753,912	M1K	probably null	Het
Vmn2r58	C	T	7: 41,837,489	G661R	possibly damaging	Het
Vps41	A	C	13: 18,841,243	D471A	probably damaging	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp462	T	A	4: 55,013,489	F1818L	possibly damaging	Het
Zp3	G	A	5: 135,980,281	E50K	possibly damaging	Het

Other mutations in Prss23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Prss23	APN	7	89509887	missense	possibly damaging	0.83
IGL03308:Prss23	APN	7	89509730	missense	probably benign	0.09
IGL03349:Prss23	APN	7	89509857	missense	probably benign	0.09
IGL03378:Prss23	APN	7	89510144	missense	probably damaging	0.99
R0394:Prss23	UTSW	7	89509847	missense	probably damaging	1.00
R1026:Prss23	UTSW	7	89509958	missense	probably benign	0.01
R1417:Prss23	UTSW	7	89510184	missense	probably damaging	1.00
R1467:Prss23	UTSW	7	89510009	missense	probably damaging	1.00
R1467:Prss23	UTSW	7	89510009	missense	probably damaging	1.00
R1806:Prss23	UTSW	7	89510391	missense	probably damaging	1.00
R2153:Prss23	UTSW	7	89509911	missense	probably damaging	1.00
R3420:Prss23	UTSW	7	89509899	missense	possibly damaging	0.91
R3849:Prss23	UTSW	7	89509751	missense	probably damaging	1.00
R4567:Prss23	UTSW	7	89510866	utr 5 prime	probably benign
R4828:Prss23	UTSW	7	89509900	nonsense	probably null
R5010:Prss23	UTSW	7	89510214	missense	probably benign	0.25
R5251:Prss23	UTSW	7	89510322	missense	probably damaging	1.00
R5399:Prss23	UTSW	7	89509966	missense	probably benign	0.02
R5629:Prss23	UTSW	7	89510192	missense	probably damaging	1.00
R5697:Prss23	UTSW	7	89509982	missense	probably damaging	0.99
R6378:Prss23	UTSW	7	89510033	missense	probably damaging	1.00
R6716:Prss23	UTSW	7	89509847	missense	probably damaging	1.00
R6880:Prss23	UTSW	7	89510825	missense	probably benign	0.03
R7097:Prss23	UTSW	7	89510184	missense	probably damaging	1.00
R7362:Prss23	UTSW	7	89509764	missense	probably damaging	1.00
R7563:Prss23	UTSW	7	89509830	missense	probably damaging	1.00
R7637:Prss23	UTSW	7	89510246	missense	probably benign	0.00
R7815:Prss23	UTSW	7	89510045	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGCTGAGGATGTAGATGCCCACC -3'
(R):5'- CTCTCGCTTGGAACCTGAGGAATG -3'

Sequencing Primer
(F):5'- TAGATGCCCACCCGAGTCTC -3'
(R):5'- TGTTCCCAGTCTTAGAAACATGACC -3'

Posted On

2014-05-14