Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02504:Pcsk5'

296238

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcsk5

Ensembl Gene

ENSMUSG00000024713

Gene Name

proprotein convertase subtilisin/kexin type 5

Synonyms

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02504

Quality Score

Status

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 17477872 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025618 (fasta)

Gene Model

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

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

Coding Region Coverage

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	T	A	4: 126,517,439	N142I	probably benign	Het
Asf1b	A	G	8: 83,955,829	M1V	probably null	Het
Astn1	T	C	1: 158,502,408	C278R	probably damaging	Het
Ccdc162	A	T	10: 41,552,388	L692Q	probably damaging	Het
Cd207	T	A	6: 83,677,806		probably benign	Het
Chd5	T	A	4: 152,363,322	N548K	probably damaging	Het
Col7a1	G	A	9: 108,980,675	G2659D	unknown	Het
Cpa6	A	T	1: 10,488,919	Y75N	probably benign	Het
Cspg4	G	T	9: 56,885,772	V264L	probably benign	Het
Cyp3a25	T	A	5: 145,993,331	I155L	probably benign	Het
Dock6	A	G	9: 21,846,655	I51T	probably benign	Het
Dse	G	T	10: 34,152,800	Q765K	probably benign	Het
Fam219b	A	T	9: 57,538,068	M87L	probably benign	Het
Fat3	G	A	9: 15,959,798	R3766C	probably damaging	Het
Fcnb	A	C	2: 28,076,594	M309R	probably damaging	Het
Fnbp4	C	A	2: 90,768,543	N670K	probably damaging	Het
Fsip2	T	A	2: 82,978,855	N1839K	possibly damaging	Het
G6pc2	A	G	2: 69,226,595	H195R	probably damaging	Het
Gm14179	A	T	11: 99,743,177			Het
Grm5	A	G	7: 88,130,772	N1172S	probably benign	Het
Hsd17b14	A	G	7: 45,556,375	T64A	possibly damaging	Het
Hspb7	G	T	4: 141,421,820	E12D	probably benign	Het
Kdm2a	T	C	19: 4,356,771	N155D	possibly damaging	Het
Klhl24	A	T	16: 20,115,943	R389*	probably null	Het
Kmt2b	A	G	7: 30,586,543		probably benign	Het
Krt4	T	A	15: 101,919,292	I469F	unknown	Het
Mto1	A	T	9: 78,460,927	D451V	probably damaging	Het
Muc5b	A	T	7: 141,846,440	D477V	unknown	Het
Ppil4	T	A	10: 7,820,984	Y420*	probably null	Het
Ppp2r5d	A	T	17: 46,700,093	D27E	probably benign	Het
Prkd2	T	C	7: 16,857,832	L596P	probably damaging	Het
Prr30	T	C	14: 101,198,620	I169V	probably benign	Het
Rtl9	A	T	X: 143,102,291	T900S	probably benign	Het
Sash1	A	G	10: 8,729,912	S905P	probably benign	Het
Scn2a	G	A	2: 65,683,884	G304D	probably benign	Het
Scp2d1	T	C	2: 144,823,957	L72P	probably damaging	Het
Sept2	T	A	1: 93,500,481	H166Q	probably benign	Het
Sgcb	A	G	5: 73,644,375	I49T	probably damaging	Het
Smyd4	T	A	11: 75,390,681	W327R	probably damaging	Het
Sptbn1	C	T	11: 30,142,293	E491K	probably damaging	Het
Tcaf1	A	T	6: 42,679,279	H254Q	probably benign	Het
Tll1	A	C	8: 64,070,237	D480E	possibly damaging	Het
Tlr3	G	A	8: 45,397,907	T127M	probably damaging	Het
Trio	A	T	15: 27,847,390	C929*	probably null	Het
Ttn	C	T	2: 76,798,150	W12809*	probably null	Het
Ugt2b35	T	A	5: 87,001,541	M217K	possibly damaging	Het
Unc13b	T	C	4: 43,263,031	V4261A	probably damaging	Het
Uqcrc2	T	C	7: 120,643,031	I82T	probably benign	Het
Usp21	A	G	1: 171,285,023	I266T	probably benign	Het
Veph1	A	T	3: 66,172,130	H321Q	probably damaging	Het
Vmn1r29	A	C	6: 58,307,670	Y125S	probably benign	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
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
R6164:Pcsk5	UTSW	19	17836953	critical splice donor site	probably null
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	probably benign	0.14
R9581:Pcsk5	UTSW	19	17454832	missense	probably benign
R9592:Pcsk5	UTSW	19	17675535	nonsense	probably null
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

Posted On

2015-04-16