Mutagenetix > Incidental Mutation

Incidental Mutation 'R9492:Prss53'

717002

Institutional Source

Beutler Lab

Gene Symbol

Prss53

Ensembl Gene

ENSMUSG00000044139

Gene Name

serine protease 53

Synonyms

BC039632

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9492 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127485013-127490142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127488802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 31 (R31C)

Ref Sequence

ENSEMBL: ENSMUSP00000112972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033074] [ENSMUST00000050383] [ENSMUST00000119922] [ENSMUST00000121394] [ENSMUST00000205300] [ENSMUST00000206053]

AlphaFold

Q571E5

Predicted Effect

probably benign
Transcript: ENSMUST00000033074

SMART Domains

Protein: ENSMUSP00000033074
Gene: ENSMUSG00000096145

Domain	Start	End	E-Value	Type
VKc	5	153	1.29e-56	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000050383

SMART Domains

Protein: ENSMUSP00000052641
Gene: ENSMUSG00000049739

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	31	1.36e-2	SMART
ZnF_C2H2	67	89	5.29e-5	SMART
ZnF_C2H2	231	253	3.21e-4	SMART
ZnF_C2H2	258	280	9.58e-3	SMART
ZnF_C2H2	286	308	2.24e-3	SMART
low complexity region	345	362	N/A	INTRINSIC
ZnF_C2H2	366	388	5.42e-2	SMART
ZnF_C2H2	393	415	8.34e-3	SMART
ZnF_C2H2	457	479	5.9e-3	SMART
ZnF_C2H2	484	506	4.87e-4	SMART
ZnF_C2H2	566	588	2.32e-1	SMART
ZnF_C2H2	606	628	6.32e-3	SMART
ZnF_C2H2	633	655	1.53e-1	SMART
low complexity region	737	750	N/A	INTRINSIC
low complexity region	786	797	N/A	INTRINSIC
ZnF_C2H2	806	828	2.17e-1	SMART
ZnF_C2H2	833	855	3.69e-4	SMART
ZnF_C2H2	866	889	1.16e-1	SMART
low complexity region	890	911	N/A	INTRINSIC
ZnF_C2H2	941	961	9.31e1	SMART
ZnF_C2H2	1035	1057	1.95e-3	SMART
ZnF_C2H2	1062	1084	3.39e-3	SMART
low complexity region	1149	1163	N/A	INTRINSIC
ZnF_C2H2	1170	1192	1.58e-3	SMART
ZnF_C2H2	1197	1219	5.42e-2	SMART
ZnF_C2H2	1225	1247	3.69e-4	SMART
ZnF_C2H2	1266	1286	5.12e1	SMART
ZnF_C2H2	1293	1315	3.69e-4	SMART
ZnF_C2H2	1333	1355	3.11e-2	SMART
ZnF_C2H2	1550	1572	5.9e-3	SMART
ZnF_C2H2	1640	1662	1.08e-1	SMART
ZnF_C2H2	1667	1689	4.11e-2	SMART
ZnF_C2H2	1695	1717	4.11e-2	SMART
ZnF_C2H2	1724	1746	1.45e-2	SMART
low complexity region	1751	1764	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119922

SMART Domains

Protein: ENSMUSP00000112542
Gene: ENSMUSG00000096145

Domain	Start	End	E-Value	Type
Pfam:VKOR	3	85	1.5e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000121394
AA Change: R31C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112972
Gene: ENSMUSG00000044139
AA Change: R31C

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	38	268	3.91e-45	SMART
Tryp_SPc	300	520	9.95e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126662

SMART Domains

Protein: ENSMUSP00000123566
Gene: ENSMUSG00000030804

Domain	Start	End	E-Value	Type
VKc	1	111	8.84e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000205300
AA Change: R31C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000206053

Predicted Effect

probably benign
Transcript: ENSMUST00000206340

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	C	1: 120,078,472 (GRCm39)	K43T	probably damaging	Het
Abca12	A	G	1: 71,297,380 (GRCm39)	V2370A	possibly damaging	Het
Abca13	T	A	11: 9,243,667 (GRCm39)	C1843*	probably null	Het
Abr	C	T	11: 76,399,751 (GRCm39)	S82N	probably benign	Het
Acot2	T	C	12: 84,039,384 (GRCm39)	S298P	probably benign	Het
Acrbp	A	G	6: 125,038,062 (GRCm39)	D421G	probably benign	Het
Adam25	A	T	8: 41,206,736 (GRCm39)	M1L	probably benign	Het
Ano8	A	G	8: 71,934,784 (GRCm39)	V441A	possibly damaging	Het
Aoc1l1	T	C	6: 48,955,540 (GRCm39)	S717P	probably benign	Het
Atg2b	T	C	12: 105,624,549 (GRCm39)	H650R	probably benign	Het
Atp11a	C	T	8: 12,894,490 (GRCm39)	T695I	probably damaging	Het
AU018091	A	G	7: 3,214,023 (GRCm39)	S74P	probably benign	Het
Cadps2	A	G	6: 23,427,238 (GRCm39)	Y597H	probably benign	Het
Ccdc15	C	T	9: 37,215,665 (GRCm39)	E619K	probably damaging	Het
Ceacam11	G	T	7: 17,709,468 (GRCm39)	C222F	probably benign	Het
Cmya5	T	C	13: 93,177,822 (GRCm39)	*3677W	probably null	Het
Col11a1	G	C	3: 114,005,752 (GRCm39)	C1628S	probably benign	Het
Dhx8	T	C	11: 101,654,808 (GRCm39)	I1032T	possibly damaging	Het
Dpp10	T	C	1: 123,281,159 (GRCm39)	D630G	probably damaging	Het
Eci3	C	T	13: 35,143,976 (GRCm39)	G50R	probably benign	Het
Eif2a	A	G	3: 58,448,475 (GRCm39)	T103A	probably benign	Het
Frem1	T	C	4: 82,920,057 (GRCm39)	E432G	probably damaging	Het
Gdnf	C	T	15: 7,840,423 (GRCm39)		probably benign	Het
Hace1	T	A	10: 45,547,230 (GRCm39)	M471K	probably benign	Het
Hydin	A	G	8: 111,326,877 (GRCm39)	T4739A	possibly damaging	Het
Ilf2	A	G	3: 90,394,570 (GRCm39)	I320V	probably benign	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Klhl21	T	C	4: 152,093,419 (GRCm39)	L7S	probably benign	Het
Lrrc61	G	T	6: 48,545,761 (GRCm39)	E195*	probably null	Het
Maz	G	T	7: 126,622,292 (GRCm39)	A443E	possibly damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mtor	T	A	4: 148,568,801 (GRCm39)	L1107Q	probably damaging	Het
Nectin3	T	C	16: 46,215,511 (GRCm39)	H494R	probably benign	Het
Nlgn1	G	T	3: 25,488,480 (GRCm39)	Y618*	probably null	Het
Nup98	C	T	7: 101,778,252 (GRCm39)	E1372K	probably benign	Het
Or12e9	A	G	2: 87,201,960 (GRCm39)	N28S	probably benign	Het
Or5af1	T	C	11: 58,722,610 (GRCm39)	V210A	probably benign	Het
Otud6b	A	G	4: 14,818,349 (GRCm39)	I184T	probably damaging	Het
Pcsk6	A	G	7: 65,697,346 (GRCm39)	N891S	probably benign	Het
Pde4a	T	A	9: 21,106,096 (GRCm39)	L237Q	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pou3f1	A	G	4: 124,552,179 (GRCm39)	H227R	possibly damaging	Het
Psmb8	T	A	17: 34,417,435 (GRCm39)	D21E	probably benign	Het
Ptprq	A	G	10: 107,478,813 (GRCm39)	Y1277H	probably damaging	Het
Rexo2	T	C	9: 48,380,176 (GRCm39)	T219A	probably benign	Het
Rfc3	A	G	5: 151,566,411 (GRCm39)	F346S	probably damaging	Het
Rhoq	A	T	17: 87,304,373 (GRCm39)	Q168L		Het
Sgk1	A	G	10: 21,874,096 (GRCm39)	N452S	probably damaging	Het
Slc35f3	A	G	8: 127,048,026 (GRCm39)	K122R	probably damaging	Het
Slc4a2	T	A	5: 24,644,761 (GRCm39)	M1021K	probably benign	Het
Sorcs2	A	G	5: 36,186,484 (GRCm39)	V886A	probably benign	Het
Spata20	T	A	11: 94,374,444 (GRCm39)	M308L	probably damaging	Het
Spen	A	T	4: 141,199,098 (GRCm39)	H3176Q	probably benign	Het
Stat5b	T	A	11: 100,692,361 (GRCm39)	H141L	probably benign	Het
Syne2	T	A	12: 75,995,839 (GRCm39)	H2126Q	possibly damaging	Het
Traj46	A	G	14: 54,409,851 (GRCm39)	T20A		Het
Trim30a	G	T	7: 104,078,330 (GRCm39)	Q249K	probably damaging	Het
Trmt13	A	G	3: 116,388,281 (GRCm39)	Y52H	probably benign	Het
Trpv3	A	G	11: 73,187,267 (GRCm39)	I700V	probably damaging	Het
Tyr	G	A	7: 87,121,704 (GRCm39)	H363Y	probably damaging	Het
Tyr	C	G	7: 87,121,705 (GRCm39)	M362I	possibly damaging	Het
Ubb	G	A	11: 62,442,984 (GRCm39)	V5M	probably damaging	Het
Unc5a	T	C	13: 55,150,288 (GRCm39)	L519P	probably damaging	Het
Uso1	A	G	5: 92,315,191 (GRCm39)	D185G	possibly damaging	Het
Vmn1r228	C	T	17: 20,996,862 (GRCm39)	E219K	probably damaging	Het
Wdr49	A	G	3: 75,240,669 (GRCm39)	V400A	probably damaging	Het
Zfp292	A	G	4: 34,810,794 (GRCm39)	M755T	probably benign	Het

Other mutations in Prss53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01784:Prss53	APN	7	127,485,724 (GRCm39)	missense	probably benign
IGL02244:Prss53	APN	7	127,487,964 (GRCm39)	missense	possibly damaging	0.73
IGL02310:Prss53	APN	7	127,485,786 (GRCm39)	missense	probably benign	0.37
PIT4515001:Prss53	UTSW	7	127,487,963 (GRCm39)	missense	probably benign	0.01
R1933:Prss53	UTSW	7	127,485,434 (GRCm39)	makesense	probably null
R1934:Prss53	UTSW	7	127,485,920 (GRCm39)	splice site	probably null
R1994:Prss53	UTSW	7	127,486,565 (GRCm39)	missense	probably benign	0.03
R2304:Prss53	UTSW	7	127,487,479 (GRCm39)	missense	probably benign
R2307:Prss53	UTSW	7	127,490,037 (GRCm39)	missense	probably benign
R4934:Prss53	UTSW	7	127,487,879 (GRCm39)	missense	probably benign
R6649:Prss53	UTSW	7	127,485,747 (GRCm39)	missense	probably benign	0.37
R7854:Prss53	UTSW	7	127,488,117 (GRCm39)	missense	probably benign	0.27
R8899:Prss53	UTSW	7	127,488,193 (GRCm39)	missense	possibly damaging	0.90
R9182:Prss53	UTSW	7	127,487,554 (GRCm39)	missense	probably benign	0.01
R9314:Prss53	UTSW	7	127,490,039 (GRCm39)	missense	probably benign
R9657:Prss53	UTSW	7	127,486,238 (GRCm39)	missense	probably damaging	1.00
Z1088:Prss53	UTSW	7	127,486,570 (GRCm39)	nonsense	probably null
Z1177:Prss53	UTSW	7	127,488,721 (GRCm39)	missense	probably damaging	1.00
Z1177:Prss53	UTSW	7	127,488,246 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCATTTTGAGGTACAGGGAC -3'
(R):5'- TCACAGATATGGACCCAGGG -3'

Sequencing Primer
(F):5'- CATTTTGAGGTACAGGGACAAATCC -3'
(R):5'- ATATGGACCCAGGGCCTGTC -3'

Posted On

2022-07-18