Mutagenetix > Incidental Mutations

Incidental Mutation 'R6164:Pcsk5'

490076

Institutional Source

Beutler Lab

Gene Symbol

Pcsk5

Ensembl Gene

ENSMUSG00000024713

Gene Name

proprotein convertase subtilisin/kexin type 5

Synonyms

PC6, SPC6, b2b1549Clo, b2b585Clo, PC5A, PC5/6A

MMRRC Submission

044310-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17432832-17837632 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 17836953 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000050272 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025618] [ENSMUST00000050715]

AlphaFold

Q04592

Predicted Effect

probably null
Transcript: ENSMUST00000025618

SMART Domains

Protein: ENSMUSP00000025618
Gene: ENSMUSG00000024713

Domain	Start	End	E-Value	Type
low complexity region	17	29	N/A	INTRINSIC
Pfam:S8_pro-domain	40	116	4.6e-27	PFAM
Pfam:Peptidase_S8	164	447	2.1e-46	PFAM
Pfam:P_proprotein	507	597	2.1e-33	PFAM
FU	632	682	4.92e-13	SMART
FU	685	732	4.84e-12	SMART
EGF_like	690	723	3.29e1	SMART
FU	736	779	1.29e-7	SMART
FU	781	826	5.74e-14	SMART
FU	834	881	2.23e-11	SMART
EGF_like	839	870	3.43e1	SMART
FU	884	929	1.84e-12	SMART
FU	931	981	1.47e-11	SMART
FU	984	1030	1e-4	SMART
EGF_like	989	1020	2.92e1	SMART
FU	1034	1079	5.04e-10	SMART
FU	1081	1123	3.08e-5	SMART
FU	1127	1168	4.88e-8	SMART
FU	1206	1248	2.7e-10	SMART
EGF_like	1211	1239	5.91e1	SMART
FU	1252	1299	1.48e-7	SMART
EGF	1264	1305	1.69e1	SMART
FU	1301	1345	2.31e-9	SMART
FU	1347	1390	8.98e-7	SMART
EGF_like	1352	1381	7.23e1	SMART
FU	1392	1438	1.04e-11	SMART
FU	1442	1487	6.8e-7	SMART
EGF	1447	1476	2.16e1	SMART
FU	1491	1536	3.37e-11	SMART
FU	1540	1585	9.32e-14	SMART
EGF_like	1545	1576	2.8e1	SMART
FU	1589	1636	1.39e-12	SMART
FU	1640	1685	6.49e-13	SMART
EGF_like	1645	1676	6.67e1	SMART
FU	1691	1738	7.01e-9	SMART
transmembrane domain	1770	1789	N/A	INTRINSIC
low complexity region	1827	1840	N/A	INTRINSIC
low complexity region	1858	1876	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000050715

SMART Domains

Protein: ENSMUSP00000050272
Gene: ENSMUSG00000024713

Domain	Start	End	E-Value	Type
low complexity region	17	29	N/A	INTRINSIC
PDB:1KN6\|A	35	116	6e-11	PDB
Pfam:Peptidase_S8	168	456	2.9e-59	PFAM
Pfam:P_proprotein	507	597	1.5e-34	PFAM
FU	632	682	4.92e-13	SMART
FU	685	732	4.84e-12	SMART
EGF_like	690	723	3.29e1	SMART
FU	736	779	1.29e-7	SMART
FU	781	826	5.74e-14	SMART
FU	834	884	1.4e-8	SMART
EGF_like	839	870	3.43e1	SMART

Meta Mutation Damage Score

0.9501

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: This gene encodes a subtilisin-like proprotein convertase that mediates posttranslational endoproteolytic processing of various proprotein substrates traversing the secretory pathway. The encoded protein is an inactive zymogen that undergoes autoproteolytic processing in the endoplasmic reticulum and the Golgi network to generate an active enzyme. Mice lacking the encoded protein die at an early embryonic stage. Conditional inactivation this gene in the epiblast but not in the extraembryonic tissue bypasses embryonic lethality but results in death at birth. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a null mutation in this gene display embryonic lethality between E4.5-E7.5. Mice homozygous for ENU-induced mutations exhibit heterotaxia with congenital heart defects and immotile respiratory cilia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030419C18Rik	C	A	9: 58,499,247	P147T	probably damaging	Het
Anpep	A	G	7: 79,842,205	I16T	possibly damaging	Het
Ap1s1	T	C	5: 137,037,386		probably benign	Het
Atp1a2	T	C	1: 172,278,892	S848G	probably damaging	Het
Bche	T	A	3: 73,701,056	I346F	possibly damaging	Het
Ccdc148	T	A	2: 58,823,633	Y502F	probably damaging	Het
Ccdc88c	T	C	12: 100,953,383	M416V	probably damaging	Het
Cdk17	T	C	10: 93,235,469	S351P	probably benign	Het
Cfap100	T	C	6: 90,415,786	E114G	probably benign	Het
Clec4a4	T	C	6: 122,991,874	I66T	possibly damaging	Het
Cpeb4	T	C	11: 31,920,584		probably null	Het
Cybrd1	T	C	2: 71,118,274	V52A	probably damaging	Het
Decr1	G	A	4: 15,924,347	A191V	probably benign	Het
Dnah5	A	T	15: 28,378,343	I2942L	probably benign	Het
Ehd4	C	T	2: 120,102,208	V246I	possibly damaging	Het
Ercc6l2	A	G	13: 63,872,344		probably benign	Het
Exoc4	T	A	6: 33,332,283	M280K	probably damaging	Het
Fam122a	T	A	19: 24,477,086	M91L	probably benign	Het
Fam71e2	T	C	7: 4,770,678	T73A	probably damaging	Het
Fmo1	T	G	1: 162,851,410	E89A	probably benign	Het
Foxm1	A	G	6: 128,373,935	D733G	probably benign	Het
Gm10093	T	C	17: 78,492,287	S236P	probably damaging	Het
Gulp1	A	C	1: 44,754,351	R57S	probably damaging	Het
Hdac4	G	T	1: 92,030,154	A46E	probably benign	Het
Hspg2	T	C	4: 137,514,655	S567P	possibly damaging	Het
Iqgap1	A	C	7: 80,809,106	C21W	unknown	Het
Isoc2a	T	C	7: 4,891,489	L57P	probably damaging	Het
Krt34	G	A	11: 100,038,446	Q313*	probably null	Het
Krt6a	C	T	15: 101,692,573	V263I	probably damaging	Het
Man2a1	A	G	17: 64,733,724	I106V	possibly damaging	Het
Muc16	T	C	9: 18,558,379	D7300G	probably damaging	Het
Muc5b	A	T	7: 141,863,345	S3343C	possibly damaging	Het
Mup11	C	T	4: 60,662,240	E21K	possibly damaging	Het
Myo3b	T	A	2: 70,245,410		probably null	Het
Nlrp4c	T	C	7: 6,092,508	L795P	probably damaging	Het
Nup160	T	A	2: 90,717,876	Y984*	probably null	Het
Nwd1	C	T	8: 72,662,186	R81W	probably damaging	Het
Olfr472	A	G	7: 107,903,388	T224A	probably benign	Het
Olfr707	G	T	7: 106,891,928	Y60*	probably null	Het
Osmr	A	G	15: 6,860,352	V5A	probably benign	Het
Pex11a	G	A	7: 79,737,379	T235M	probably damaging	Het
Pik3r6	A	G	11: 68,551,973	T730A	probably benign	Het
Ppp1r9a	C	T	6: 5,110,715		probably benign	Het
Ppp2r2d	T	C	7: 138,873,013	I41T	probably damaging	Het
Prdm1	C	T	10: 44,450,195	R126H	probably damaging	Het
Primpol	C	T	8: 46,586,442	R381H	probably benign	Het
Prl7a1	C	A	13: 27,637,643	Q102H	probably benign	Het
Rbpjl	T	C	2: 164,410,879	L284P	probably damaging	Het
Rgs21	A	T	1: 144,541,297	C6S	probably benign	Het
Rnasel	T	C	1: 153,754,392	V218A	probably benign	Het
Sag	G	T	1: 87,824,453	V223L	probably damaging	Het
Sdk1	C	T	5: 142,132,069	T1574M	probably damaging	Het
Secisbp2	G	A	13: 51,679,860	V679M	probably damaging	Het
Sele	T	A	1: 164,051,817		probably null	Het
Senp7	T	A	16: 56,169,754	L622M	probably damaging	Het
Sgo1	G	A	17: 53,676,953	R466C	probably damaging	Het
Sh3tc1	C	A	5: 35,706,246	V866L	probably benign	Het
Snrnp25	T	A	11: 32,207,647	V75D	probably benign	Het
Syne1	C	T	10: 5,061,429	C7899Y	probably damaging	Het
U2af1l4	T	C	7: 30,564,582	S55P	probably damaging	Het
Vmn1r23	A	G	6: 57,926,055	I246T	possibly damaging	Het
Vmn1r66	T	A	7: 10,274,402	R235*	probably null	Het
Wnk4	C	T	11: 101,275,068	A807V	possibly damaging	Het

Other mutations in Pcsk5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Pcsk5	APN	19	17511421	missense	possibly damaging	0.49
IGL00423:Pcsk5	APN	19	17642559	missense	probably benign	0.23
IGL01315:Pcsk5	APN	19	17451958	missense	probably damaging	1.00
IGL01372:Pcsk5	APN	19	17617744	missense	probably damaging	1.00
IGL01738:Pcsk5	APN	19	17433780	splice site	probably benign
IGL01874:Pcsk5	APN	19	17595677	missense	probably damaging	0.96
IGL02070:Pcsk5	APN	19	17439042	missense	probably benign	0.25
IGL02311:Pcsk5	APN	19	17433420	nonsense	probably null
IGL02436:Pcsk5	APN	19	17564708	critical splice donor site	probably null
IGL02498:Pcsk5	APN	19	17511556	missense	probably damaging	0.99
IGL02504:Pcsk5	APN	19	17477872	critical splice donor site	probably null
IGL02664:Pcsk5	APN	19	17456770	missense	probably damaging	1.00
IGL02735:Pcsk5	APN	19	17675468	missense	probably damaging	1.00
IGL02941:Pcsk5	APN	19	17447501	missense	probably damaging	1.00
PIT4377001:Pcsk5	UTSW	19	17439102	missense	probably damaging	1.00
R0007:Pcsk5	UTSW	19	17654861	missense	probably damaging	1.00
R0007:Pcsk5	UTSW	19	17654861	missense	probably damaging	1.00
R0032:Pcsk5	UTSW	19	17564815	missense	possibly damaging	0.81
R0032:Pcsk5	UTSW	19	17564815	missense	possibly damaging	0.81
R0373:Pcsk5	UTSW	19	17654849	missense	probably damaging	1.00
R0784:Pcsk5	UTSW	19	17714769	missense	probably benign	0.06
R0843:Pcsk5	UTSW	19	17654818	missense	probably damaging	1.00
R1014:Pcsk5	UTSW	19	17564830	missense	probably damaging	1.00
R1221:Pcsk5	UTSW	19	17837148	missense	possibly damaging	0.85
R1435:Pcsk5	UTSW	19	17563882	nonsense	probably null
R1471:Pcsk5	UTSW	19	17568324	missense	probably damaging	1.00
R1564:Pcsk5	UTSW	19	17654756	missense	probably damaging	1.00
R1597:Pcsk5	UTSW	19	17436600	missense	probably benign	0.00
R1614:Pcsk5	UTSW	19	17515256	missense	probably damaging	1.00
R1661:Pcsk5	UTSW	19	17447574	missense	probably damaging	0.98
R1671:Pcsk5	UTSW	19	17454868	missense	probably damaging	1.00
R1703:Pcsk5	UTSW	19	17752094	missense	probably benign	0.15
R1793:Pcsk5	UTSW	19	17454750	missense	possibly damaging	0.83
R1855:Pcsk5	UTSW	19	17515192	missense	possibly damaging	0.93
R1909:Pcsk5	UTSW	19	17433461	missense	probably benign	0.00
R1959:Pcsk5	UTSW	19	17433418	missense	unknown
R2006:Pcsk5	UTSW	19	17477916	missense	probably benign	0.32
R2045:Pcsk5	UTSW	19	17581144	missense	possibly damaging	0.48
R2061:Pcsk5	UTSW	19	17454872	missense	probably benign	0.03
R2110:Pcsk5	UTSW	19	17473059	missense	probably damaging	1.00
R2402:Pcsk5	UTSW	19	17474834	nonsense	probably null
R2496:Pcsk5	UTSW	19	17466158	nonsense	probably null
R4115:Pcsk5	UTSW	19	17433419	missense	unknown
R4504:Pcsk5	UTSW	19	17451955	missense	probably damaging	1.00
R4616:Pcsk5	UTSW	19	17560750	missense	probably benign	0.00
R4683:Pcsk5	UTSW	19	17473041	missense	probably damaging	1.00
R4717:Pcsk5	UTSW	19	17525267	missense	probably damaging	1.00
R4761:Pcsk5	UTSW	19	17837148	missense	possibly damaging	0.85
R4789:Pcsk5	UTSW	19	17433599	missense	probably benign	0.09
R4880:Pcsk5	UTSW	19	17447690	missense	probably damaging	1.00
R5100:Pcsk5	UTSW	19	17515135	critical splice donor site	probably null
R5114:Pcsk5	UTSW	19	17675585	missense	probably damaging	1.00
R5116:Pcsk5	UTSW	19	17463434	missense	possibly damaging	0.87
R5193:Pcsk5	UTSW	19	17564810	missense	possibly damaging	0.79
R5279:Pcsk5	UTSW	19	17595658	splice site	probably null
R5334:Pcsk5	UTSW	19	17461851	missense	probably benign	0.00
R5369:Pcsk5	UTSW	19	17581255	missense	probably damaging	1.00
R5451:Pcsk5	UTSW	19	17463356	missense	possibly damaging	0.91
R5547:Pcsk5	UTSW	19	17752124	missense	probably benign	0.08
R5630:Pcsk5	UTSW	19	17575831	missense	probably benign	0.04
R5805:Pcsk5	UTSW	19	17456829	missense	probably benign	0.01
R6063:Pcsk5	UTSW	19	17454681	critical splice donor site	probably null
R6130:Pcsk5	UTSW	19	17511556	missense	probably damaging	0.99
R6153:Pcsk5	UTSW	19	17511492	missense	probably damaging	0.98
R6163:Pcsk5	UTSW	19	17473041	missense	probably damaging	1.00
R6228:Pcsk5	UTSW	19	17581267	missense	possibly damaging	0.91
R6426:Pcsk5	UTSW	19	17617729	missense	probably damaging	1.00
R6601:Pcsk5	UTSW	19	17511380	missense	probably benign	0.00
R6648:Pcsk5	UTSW	19	17575821	missense	probably damaging	0.99
R6789:Pcsk5	UTSW	19	17456786	missense	possibly damaging	0.93
R6807:Pcsk5	UTSW	19	17572622	splice site	probably null
R6837:Pcsk5	UTSW	19	17439084	missense	probably benign	0.01
R6998:Pcsk5	UTSW	19	17473112	missense	probably benign	0.20
R7051:Pcsk5	UTSW	19	17433731	missense	probably benign	0.00
R7164:Pcsk5	UTSW	19	17451985	missense	probably damaging	1.00
R7173:Pcsk5	UTSW	19	17477877	missense	possibly damaging	0.85
R7348:Pcsk5	UTSW	19	17456818	nonsense	probably null
R7360:Pcsk5	UTSW	19	17515213	missense	probably benign	0.00
R7407:Pcsk5	UTSW	19	17675516	missense	probably damaging	1.00
R7447:Pcsk5	UTSW	19	17510236	missense	probably benign	0.31
R7521:Pcsk5	UTSW	19	17454832	missense	probably benign	0.29
R7525:Pcsk5	UTSW	19	17642590	missense	probably damaging	1.00
R7560:Pcsk5	UTSW	19	17836972	missense	probably benign	0.01
R7566:Pcsk5	UTSW	19	17572457	missense	probably benign
R7631:Pcsk5	UTSW	19	17564780	missense	probably damaging	1.00
R7654:Pcsk5	UTSW	19	17456804	missense	possibly damaging	0.46
R7677:Pcsk5	UTSW	19	17581229	missense	possibly damaging	0.59
R7711:Pcsk5	UTSW	19	17439080	missense	possibly damaging	0.82
R7903:Pcsk5	UTSW	19	17572483	missense	probably damaging	0.98
R7938:Pcsk5	UTSW	19	17466185	critical splice acceptor site	probably null
R8025:Pcsk5	UTSW	19	17561051	intron	probably benign
R8032:Pcsk5	UTSW	19	17714787	missense	probably damaging	0.98
R8064:Pcsk5	UTSW	19	17714861	missense	probably damaging	1.00
R8115:Pcsk5	UTSW	19	17510166	critical splice donor site	probably null
R8193:Pcsk5	UTSW	19	17586051	missense	possibly damaging	0.64
R8408:Pcsk5	UTSW	19	17433445	missense	probably benign	0.00
R8466:Pcsk5	UTSW	19	17572500	nonsense	probably null
R8739:Pcsk5	UTSW	19	17454774	missense	probably benign	0.00
R8753:Pcsk5	UTSW	19	17469044	missense	probably benign	0.00
R8797:Pcsk5	UTSW	19	17466108	missense	probably benign	0.00
R8944:Pcsk5	UTSW	19	17474911	missense	probably damaging	0.96
R9041:Pcsk5	UTSW	19	17560768	nonsense	probably null
R9135:Pcsk5	UTSW	19	17586108	missense
R9288:Pcsk5	UTSW	19	17836981	missense	probably benign	0.10
R9406:Pcsk5	UTSW	19	17793733	missense	not run
X0023:Pcsk5	UTSW	19	17474872	missense	possibly damaging	0.66
X0063:Pcsk5	UTSW	19	17447604	missense	probably damaging	1.00
Z1088:Pcsk5	UTSW	19	17463374	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGATCCCAGCAACTTCGG -3'
(R):5'- GAGAAGTTAGTTGTGCGCGC -3'

Sequencing Primer
(F):5'- AGCAACTTCGGGGCATGTG -3'
(R):5'- AAGCGTCGGGACCATGGAC -3'

Posted On

2017-10-10