Mutagenetix > Incidental Mutation

Incidental Mutation 'R9310:Prss23'

705470

Institutional Source

Beutler Lab

Gene Symbol

Prss23

Ensembl Gene

ENSMUSG00000039405

Gene Name

protease, serine 23

Synonyms

2310046G15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R9310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89507783-89527187 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89509934 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 309 (D309G)

Ref Sequence

ENSEMBL: ENSMUSP00000045191 (fasta)

Gene Model

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

AlphaFold

Q9D6X6

Predicted Effect

probably damaging
Transcript: ENSMUST00000041761
AA Change: D309G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045191
Gene: ENSMUSG00000039405
AA Change: D309G

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

probably benign
Transcript: ENSMUST00000207538

Predicted Effect

probably benign
Transcript: ENSMUST00000207636

Predicted Effect

probably damaging
Transcript: ENSMUST00000207932
AA Change: D309G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000208402

Predicted Effect

probably benign
Transcript: ENSMUST00000208888

Predicted Effect

probably benign
Transcript: ENSMUST00000208903

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	C	8: 116,972,120	I83V	possibly damaging	Het
Abcf1	G	A	17: 35,961,729	A288V	probably null	Het
Acer1	A	T	17: 56,955,598	V184D	probably damaging	Het
Apoh	T	C	11: 108,407,481		probably null	Het
Arid1a	T	C	4: 133,686,314	Y959C	unknown	Het
Asb3	A	T	11: 31,028,962	H84L	probably benign	Het
Atxn1	A	C	13: 45,568,018	Y134D	probably damaging	Het
BC055324	A	G	1: 163,964,520	C610R	probably damaging	Het
Btbd1	T	C	7: 81,829,237	Y52C	probably damaging	Het
Cabp2	A	G	19: 4,086,464	D170G	probably damaging	Het
Cacna1a	C	A	8: 84,536,417	A407E	probably damaging	Het
Cacna2d4	T	A	6: 119,271,953		probably null	Het
Cc2d2a	T	C	5: 43,695,146	F404S	probably damaging	Het
Cdh20	T	C	1: 104,947,336	M281T	probably damaging	Het
Cfap54	A	T	10: 92,962,315	M1694K	unknown	Het
Chd6	G	T	2: 161,039,261	T261K	probably damaging	Het
Cnksr1	T	C	4: 134,229,019	S585G	probably damaging	Het
Cntnap2	A	T	6: 46,001,347	Y312F	probably damaging	Het
Coa7	T	A	4: 108,338,313	Y146*	probably null	Het
Col28a1	T	C	6: 8,175,414	K145E	unknown	Het
Coq8b	T	A	7: 27,242,061	I221N	probably damaging	Het
Cpd	A	T	11: 76,814,781	L375*	probably null	Het
Dnah5	T	C	15: 28,448,433	F4214S	probably damaging	Het
Dock2	A	G	11: 34,294,139	F1067S	possibly damaging	Het
Dpp6	G	A	5: 27,631,441	A310T	probably damaging	Het
Dpp6	C	A	5: 27,725,644	L825I	probably benign	Het
Efcab5	A	G	11: 77,113,705	V929A	probably benign	Het
Ephx3	C	G	17: 32,189,316	D45H	probably benign	Het
Espl1	G	A	15: 102,296,850		probably null	Het
Gm4847	T	C	1: 166,632,712	R402G	probably benign	Het
Grid1	T	C	14: 35,026,805	L194S	probably damaging	Het
Heatr1	A	T	13: 12,438,610	H2122L	probably benign	Het
Il17b	T	A	18: 61,692,263	C123*	probably null	Het
Il17rc	T	C	6: 113,474,249	L181P	probably damaging	Het
Inpp5e	T	A	2: 26,397,928	I619L	probably benign	Het
Itgax	C	A	7: 128,142,260	Y814*	probably null	Het
Marcks	C	T	10: 37,136,491	E183K	unknown	Het
Mefv	T	C	16: 3,715,388	T340A	probably benign	Het
Mical2	A	G	7: 112,351,713	K958R	probably benign	Het
Mkl2	T	A	16: 13,401,090	D533E	probably benign	Het
Mtor	T	A	4: 148,469,377	L811Q	probably benign	Het
Myh4	A	G	11: 67,254,744	Y1351C	probably damaging	Het
Neb	T	C	2: 52,263,696	M2406V	probably benign	Het
Nebl	T	C	2: 17,348,867	T214A	probably benign	Het
Nlrx1	A	T	9: 44,253,408	I913N	probably damaging	Het
Npr2	G	T	4: 43,632,404	A74S	probably benign	Het
Olfr1220	T	A	2: 89,097,913	S5C	probably damaging	Het
Olfr711	C	A	7: 106,971,471	C291F	probably damaging	Het
Olfr794	T	A	10: 129,570,818	N54K	probably benign	Het
Pard3b	G	T	1: 62,166,369	V441F	probably damaging	Het
Pcsk1	G	A	13: 75,090,072	R4K	probably benign	Het
Pisd	G	T	5: 32,737,440	N337K	possibly damaging	Het
Pml	T	C	9: 58,249,662	K10R	probably benign	Het
Prkci	T	C	3: 31,029,515	W132R	probably damaging	Het
Prrc2a	A	T	17: 35,155,999	M1225K	probably benign	Het
Pxdn	G	A	12: 30,002,052	G743S	probably damaging	Het
Rab29	A	T	1: 131,872,122	E145V	probably damaging	Het
Rasef	C	T	4: 73,735,719		probably null	Het
Rcbtb1	T	G	14: 59,235,250	I496S	probably benign	Het
Rcor1	T	C	12: 111,099,959	Y228H		Het
Reep5	C	T	18: 34,357,169	V92I	probably damaging	Het
Rfx3	T	C	19: 27,849,929	S86G	probably benign	Het
Rptn	T	A	3: 93,397,077	D572E	probably benign	Het
Rsl1	A	T	13: 67,176,446		probably null	Het
Sbf2	T	C	7: 110,315,085	E1630G	possibly damaging	Het
Sele	G	A	1: 164,049,406	V84I	probably benign	Het
Serpina1b	T	C	12: 103,732,497	D31G	probably benign	Het
Serpina3c	T	C	12: 104,149,554	I244V	probably benign	Het
Serpinb6e	A	G	13: 33,833,221	V272A	probably benign	Het
Serpinb9b	A	G	13: 33,035,540	D150G	probably benign	Het
Sgpp1	T	C	12: 75,722,600	T265A	probably benign	Het
Slc9a1	T	A	4: 133,416,370	M389K	probably damaging	Het
Slco3a1	A	T	7: 74,554,488	C35S	probably damaging	Het
Slco6d1	T	A	1: 98,499,894	V650E	possibly damaging	Het
Slit2	T	C	5: 48,192,226	V274A	possibly damaging	Het
Snd1	A	G	6: 28,795,937	E593G	probably null	Het
Spata2l	C	T	8: 123,234,134	V139M	probably benign	Het
Suco	T	C	1: 161,856,858	K231R	probably damaging	Het
Tenm3	C	A	8: 48,555,900		probably benign	Het
Tg	T	C	15: 66,827,269	S2415P	possibly damaging	Het
Traf6	C	A	2: 101,696,727	A274D	possibly damaging	Het
Usp14	A	G	18: 9,996,239	I447T	possibly damaging	Het
Usp32	G	A	11: 85,051,202	L355F	probably benign	Het
Vcpip1	T	C	1: 9,747,702	N152S	possibly damaging	Het
Vgf	A	G	5: 137,032,256	Q424R	probably benign	Het
Vmn2r84	A	T	10: 130,392,124	M81K	possibly damaging	Het
Washc5	G	A	15: 59,346,218	A732V	possibly damaging	Het
Wdr63	C	T	3: 146,097,140		probably null	Het
Xrcc3	T	G	12: 111,805,051	D213A	probably damaging	Het
Zeb2	T	C	2: 44,996,976	T690A	probably benign	Het
Zfat	G	A	15: 68,084,401	S1212L	probably damaging	Het
Zfp623	C	T	15: 75,948,100	L302F	probably damaging	Het
Zfp799	A	C	17: 32,820,759	C178G	possibly damaging	Het
Zfy1	T	C	Y: 727,634	E348G	unknown	Het
Zhx3	A	G	2: 160,779,473	W925R	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
R1691:Prss23	UTSW	7	89510714	missense	probably benign	0.18
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
R8047:Prss23	UTSW	7	89509928	missense	probably damaging	1.00
R8548:Prss23	UTSW	7	89510208	missense	probably benign	0.21
R8869:Prss23	UTSW	7	89510679	missense	probably benign	0.00
R8914:Prss23	UTSW	7	89510646	missense	probably benign
R9729:Prss23	UTSW	7	89510723	missense	probably benign
R9762:Prss23	UTSW	7	89510475	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCTGGGCATATTTAAGAGGCGTG -3'
(R):5'- GCAATGCCAATGACATCGGC -3'

Sequencing Primer
(F):5'- TAAGAGGCGTGATTCTAACTGCCAC -3'
(R):5'- CATCGGCATGGATTATGACTACGC -3'

Posted On

2022-03-25