Mutagenetix > Incidental Mutation

Incidental Mutation 'R0394:Prss23'

31860

Institutional Source

Beutler Lab

Gene Symbol

Prss23

Ensembl Gene

ENSMUSG00000039405

Gene Name

serine protease 23

Synonyms

2310046G15Rik

MMRRC Submission

038600-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R0394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89156991-89176395 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 89159055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 338 (I338S)

Ref Sequence

ENSEMBL: ENSMUSP00000147183 (fasta)

Gene Model

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

AlphaFold

Q9D6X6

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000032858

Predicted Effect

probably damaging
Transcript: ENSMUST00000041761
AA Change: I338S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045191
Gene: ENSMUSG00000039405
AA Change: I338S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207636

Predicted Effect

probably damaging
Transcript: ENSMUST00000207932
AA Change: I338S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000208402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209118

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209064

Predicted Effect

probably benign
Transcript: ENSMUST00000208888

Predicted Effect

probably benign
Transcript: ENSMUST00000208903

Meta Mutation Damage Score

0.7111

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (79/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 137,773,065 (GRCm39)	S751R	probably damaging	Het
Abca8a	A	G	11: 109,917,169 (GRCm39)	V1610A	probably damaging	Het
Actl10	A	T	2: 154,394,957 (GRCm39)	H202L	probably benign	Het
Alox12	A	T	11: 70,136,761 (GRCm39)	V489E	probably damaging	Het
Ap4m1	T	A	5: 138,170,465 (GRCm39)	F5I	probably benign	Het
Atn1	T	C	6: 124,726,696 (GRCm39)		probably benign	Het
Atrnl1	T	A	19: 57,661,608 (GRCm39)	N529K	probably benign	Het
B3gntl1	C	T	11: 121,510,541 (GRCm39)	G336D	probably damaging	Het
Bmp1	G	A	14: 70,727,474 (GRCm39)	A703V	probably damaging	Het
Brat1	T	G	5: 140,704,141 (GRCm39)	L798R	probably damaging	Het
Cacna1c	C	T	6: 118,602,458 (GRCm39)	G1302R	probably damaging	Het
Cdr2	A	T	7: 120,557,954 (GRCm39)	D190E	probably benign	Het
Cenpe	T	C	3: 134,922,186 (GRCm39)		probably benign	Het
Clstn1	A	G	4: 149,728,635 (GRCm39)	D687G	probably benign	Het
Coro1a	A	G	7: 126,299,812 (GRCm39)	F337L	probably benign	Het
Ddx49	T	A	8: 70,749,575 (GRCm39)	I252F	probably damaging	Het
Dennd2a	T	A	6: 39,499,746 (GRCm39)	D273V	possibly damaging	Het
Derl2	A	T	11: 70,905,387 (GRCm39)	F32I	probably benign	Het
Dmrta1	A	G	4: 89,580,276 (GRCm39)	Y412C	probably damaging	Het
Dsg1a	A	G	18: 20,466,807 (GRCm39)	N559S	probably damaging	Het
Dusp26	G	T	8: 31,581,987 (GRCm39)	R27L	probably benign	Het
Eif2ak3	T	C	6: 70,862,202 (GRCm39)	I492T	probably benign	Het
Exoc7	G	T	11: 116,191,224 (GRCm39)	Q219K	probably damaging	Het
F2r	T	C	13: 95,740,984 (GRCm39)	T184A	probably damaging	Het
Fbf1	G	A	11: 116,043,288 (GRCm39)		probably benign	Het
Fbxo28	A	G	1: 182,144,580 (GRCm39)	M328T	probably benign	Het
Fsip2	T	A	2: 82,821,419 (GRCm39)	D5717E	possibly damaging	Het
Gnpat	C	A	8: 125,606,964 (GRCm39)	S373R	possibly damaging	Het
Golgb1	G	T	16: 36,695,941 (GRCm39)		probably benign	Het
Greb1l	T	C	18: 10,523,374 (GRCm39)	V844A	probably damaging	Het
Hps1	G	T	19: 42,759,338 (GRCm39)		probably null	Het
Inppl1	G	T	7: 101,477,402 (GRCm39)		probably benign	Het
Isca1	C	T	13: 59,906,699 (GRCm39)		probably null	Het
Itgb2	T	A	10: 77,378,309 (GRCm39)	C46S	probably damaging	Het
Kifc5b	C	T	17: 27,142,056 (GRCm39)	T178M	probably benign	Het
Krt80	T	C	15: 101,250,180 (GRCm39)	T22A	probably damaging	Het
L3mbtl2	C	T	15: 81,552,942 (GRCm39)	A125V	probably damaging	Het
Ltbp2	C	T	12: 84,853,198 (GRCm39)		probably benign	Het
Mettl18	A	G	1: 163,823,910 (GRCm39)	D77G	probably benign	Het
Mfsd2a	A	G	4: 122,843,961 (GRCm39)	L336P	probably benign	Het
Mgat4b	A	G	11: 50,121,746 (GRCm39)		probably null	Het
Mtmr14	C	T	6: 113,257,649 (GRCm39)	R233*	probably null	Het
Nbea	T	C	3: 55,937,328 (GRCm39)	Y761C	probably damaging	Het
Neb	A	T	2: 52,067,571 (GRCm39)		probably null	Het
Nup85	T	G	11: 115,455,357 (GRCm39)	M1R	probably null	Het
Obi1	T	C	14: 104,716,289 (GRCm39)	R695G	possibly damaging	Het
Or6c70	T	A	10: 129,709,811 (GRCm39)	I272L	probably benign	Het
Oxr1	T	A	15: 41,680,593 (GRCm39)	M177K	probably damaging	Het
Pgm2l1	A	G	7: 99,901,405 (GRCm39)	Y98C	probably damaging	Het
Pi4kb	G	T	3: 94,904,115 (GRCm39)		probably benign	Het
Pi4kb	G	A	3: 94,904,116 (GRCm39)		probably benign	Het
Pirb	T	A	7: 3,722,247 (GRCm39)	S199C	probably benign	Het
Rapgef3	A	T	15: 97,655,700 (GRCm39)		probably benign	Het
Rdh7	T	A	10: 127,720,539 (GRCm39)	T278S	probably benign	Het
Rrp1b	A	G	17: 32,277,538 (GRCm39)	D606G	probably benign	Het
Rxfp1	T	A	3: 79,559,684 (GRCm39)	Y379F	possibly damaging	Het
Rxfp2	T	C	5: 149,990,853 (GRCm39)	V514A	probably benign	Het
Scel	A	T	14: 103,799,954 (GRCm39)	E202V	probably benign	Het
Slc25a36	G	A	9: 96,962,257 (GRCm39)	A244V	probably benign	Het
Slc2a13	T	G	15: 91,400,595 (GRCm39)	Q209P	probably damaging	Het
Slc38a6	A	G	12: 73,399,304 (GRCm39)	N456S	probably benign	Het
Slc6a12	G	T	6: 121,323,957 (GRCm39)		probably null	Het
Spag6l	T	C	16: 16,598,493 (GRCm39)	I333V	probably benign	Het
Spen	G	A	4: 141,201,514 (GRCm39)	A2371V	probably benign	Het
St6galnac1	T	C	11: 116,657,466 (GRCm39)	D366G	probably damaging	Het
Stk33	T	C	7: 108,940,696 (GRCm39)	S5G	probably benign	Het
Tex56	T	C	13: 35,116,636 (GRCm39)		probably benign	Het
Tle2	T	C	10: 81,413,482 (GRCm39)	L84P	probably damaging	Het
Tmem14a	T	C	1: 21,296,876 (GRCm39)	M78T	probably damaging	Het
Top2b	T	A	14: 16,413,556 (GRCm38)		probably null	Het
Trmt13	A	G	3: 116,376,299 (GRCm39)	F364S	probably damaging	Het
Unkl	T	A	17: 25,449,751 (GRCm39)		probably null	Het
Uvrag	A	G	7: 98,653,926 (GRCm39)		probably benign	Het
Vmn2r8	T	A	5: 108,949,938 (GRCm39)	N303I	probably benign	Het
Vsig10l	A	G	7: 43,114,879 (GRCm39)	N360S	probably damaging	Het
Zdhhc25	T	C	15: 88,485,123 (GRCm39)	Y153H	probably damaging	Het
Zfp646	T	C	7: 127,482,434 (GRCm39)	V1537A	possibly damaging	Het
Zfp664	T	A	5: 124,963,129 (GRCm39)	Y174*	probably null	Het

Other mutations in Prss23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Prss23	APN	7	89,159,095 (GRCm39)	missense	possibly damaging	0.83
IGL03308:Prss23	APN	7	89,158,938 (GRCm39)	missense	probably benign	0.09
IGL03349:Prss23	APN	7	89,159,065 (GRCm39)	missense	probably benign	0.09
IGL03378:Prss23	APN	7	89,159,352 (GRCm39)	missense	probably damaging	0.99
R1026:Prss23	UTSW	7	89,159,166 (GRCm39)	missense	probably benign	0.01
R1417:Prss23	UTSW	7	89,159,392 (GRCm39)	missense	probably damaging	1.00
R1467:Prss23	UTSW	7	89,159,217 (GRCm39)	missense	probably damaging	1.00
R1467:Prss23	UTSW	7	89,159,217 (GRCm39)	missense	probably damaging	1.00
R1691:Prss23	UTSW	7	89,159,922 (GRCm39)	missense	probably benign	0.18
R1806:Prss23	UTSW	7	89,159,599 (GRCm39)	missense	probably damaging	1.00
R2153:Prss23	UTSW	7	89,159,119 (GRCm39)	missense	probably damaging	1.00
R3420:Prss23	UTSW	7	89,159,107 (GRCm39)	missense	possibly damaging	0.91
R3849:Prss23	UTSW	7	89,158,959 (GRCm39)	missense	probably damaging	1.00
R4567:Prss23	UTSW	7	89,160,074 (GRCm39)	utr 5 prime	probably benign
R4828:Prss23	UTSW	7	89,159,108 (GRCm39)	nonsense	probably null
R5010:Prss23	UTSW	7	89,159,422 (GRCm39)	missense	probably benign	0.25
R5251:Prss23	UTSW	7	89,159,530 (GRCm39)	missense	probably damaging	1.00
R5399:Prss23	UTSW	7	89,159,174 (GRCm39)	missense	probably benign	0.02
R5629:Prss23	UTSW	7	89,159,400 (GRCm39)	missense	probably damaging	1.00
R5697:Prss23	UTSW	7	89,159,190 (GRCm39)	missense	probably damaging	0.99
R6378:Prss23	UTSW	7	89,159,241 (GRCm39)	missense	probably damaging	1.00
R6716:Prss23	UTSW	7	89,159,055 (GRCm39)	missense	probably damaging	1.00
R6880:Prss23	UTSW	7	89,160,033 (GRCm39)	missense	probably benign	0.03
R7097:Prss23	UTSW	7	89,159,392 (GRCm39)	missense	probably damaging	1.00
R7362:Prss23	UTSW	7	89,158,972 (GRCm39)	missense	probably damaging	1.00
R7563:Prss23	UTSW	7	89,159,038 (GRCm39)	missense	probably damaging	1.00
R7637:Prss23	UTSW	7	89,159,454 (GRCm39)	missense	probably benign	0.00
R7815:Prss23	UTSW	7	89,159,253 (GRCm39)	missense	probably damaging	0.99
R8047:Prss23	UTSW	7	89,159,136 (GRCm39)	missense	probably damaging	1.00
R8548:Prss23	UTSW	7	89,159,416 (GRCm39)	missense	probably benign	0.21
R8869:Prss23	UTSW	7	89,159,887 (GRCm39)	missense	probably benign	0.00
R8914:Prss23	UTSW	7	89,159,854 (GRCm39)	missense	probably benign
R9310:Prss23	UTSW	7	89,159,142 (GRCm39)	missense	probably damaging	1.00
R9729:Prss23	UTSW	7	89,159,931 (GRCm39)	missense	probably benign
R9762:Prss23	UTSW	7	89,159,683 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCAAGAAGACGCATGTCACC -3'
(R):5'- GATTATGACTACGCCCTGCTGGAAC -3'

Sequencing Primer
(F):5'- GACGCATGTCACCCCTCC -3'
(R):5'- TGTGAGTCCTCCAGCGAAG -3'

Posted On

2013-04-24