Mutagenetix > Incidental Mutation

Incidental Mutation 'R4880:Pcsk5'

430232

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

042489-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4880 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17432832-17837632 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17447690 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 1583 (Y1583F)

Ref Sequence

ENSEMBL: ENSMUSP00000025618 (fasta)

Gene Model

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

AlphaFold

Q04592

Predicted Effect

probably damaging
Transcript: ENSMUST00000025618
AA Change: Y1583F

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

SMART Domains

Protein: ENSMUSP00000025618
Gene: ENSMUSG00000024713
AA Change: Y1583F

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

Meta Mutation Damage Score

0.0669

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

98% (89/91)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	A	G	9: 92,354,612	E108G	probably damaging	Het
2610021A01Rik	T	C	7: 41,627,105	I744T	possibly damaging	Het
4931409K22Rik	T	C	5: 24,549,752	D340G	probably benign	Het
Adgrb1	T	A	15: 74,587,022	F1324L	possibly damaging	Het
Adm	A	G	7: 110,629,119	H230R	probably benign	Het
Ank2	A	T	3: 127,046,826		probably null	Het
Arih1	A	T	9: 59,436,885	F156L	possibly damaging	Het
Atf6b	A	G	17: 34,654,555	H660R	probably damaging	Het
Bcl9l	C	A	9: 44,508,710	Q1101K	probably benign	Het
Ccdc174	G	A	6: 91,899,591		probably benign	Het
Ccdc65	A	C	15: 98,722,657		probably null	Het
Cela2a	T	C	4: 141,822,287	N59S	probably benign	Het
Cfap157	A	T	2: 32,778,249	V393E	probably damaging	Het
Chd1	T	C	17: 17,374,654	F17S	probably damaging	Het
Cpne3	T	C	4: 19,540,827	I183V	probably benign	Het
Cyp2d11	C	A	15: 82,392,105	V122L	probably benign	Het
Dcaf8	C	A	1: 172,187,489		probably benign	Het
Dchs1	T	A	7: 105,755,730	D2535V	probably benign	Het
Eif4a2	G	T	16: 23,108,900		probably benign	Het
Fzd4	T	A	7: 89,407,901	D385E	probably benign	Het
Galnt13	C	A	2: 55,060,572	Q422K	probably damaging	Het
Gm9745	A	T	13: 8,940,666		probably null	Het
Gnptab	C	T	10: 88,432,551	Q507*	probably null	Het
Hoxa7	A	G	6: 52,217,034		probably benign	Het
Htra1	T	A	7: 130,962,083	V228D	probably damaging	Het
Ifi203	T	A	1: 173,929,150		probably benign	Het
Irs1	TGGGGTGGACATCGAACTGAAGGAG	TG	1: 82,287,732	913	probably null	Het
Itga2b	G	T	11: 102,457,722		probably benign	Het
Itgb1	G	T	8: 128,716,150	R272L	probably damaging	Het
Kif9	A	G	9: 110,501,635	E343G	probably damaging	Het
Klhl5	T	C	5: 65,158,901	V97A	probably damaging	Het
Lama5	C	A	2: 180,177,068		probably benign	Het
Lamb2	A	G	9: 108,484,027		probably null	Het
Lrp1b	T	A	2: 41,770,919	Y59F	probably benign	Het
Mmrn1	A	G	6: 60,976,439	E568G	probably benign	Het
Mreg	A	G	1: 72,162,336	Y166H	probably damaging	Het
Myh7	C	A	14: 54,978,588	V1323F	probably benign	Het
Nr1i3	T	A	1: 171,216,382	I91K	probably damaging	Het
Nsfl1c	T	A	2: 151,506,310	D206E	probably damaging	Het
Olfr1294	A	T	2: 111,537,353	L312*	probably null	Het
Olfr181	A	C	16: 58,926,100	L157W	probably damaging	Het
Olfr273	A	T	4: 52,856,411	M34K	probably damaging	Het
Olfr318	G	A	11: 58,720,281	L256F	probably benign	Het
Olfr739	T	C	14: 50,425,301	Y261H	possibly damaging	Het
Olfr921	T	A	9: 38,775,547	C97*	probably null	Het
Pcdhb7	C	T	18: 37,342,231	T140I	probably benign	Het
Pcdhgb5	T	G	18: 37,732,588	S479A	probably benign	Het
Pias1	T	C	9: 62,912,798	R296G	probably benign	Het
Polr1e	T	A	4: 45,022,280	C100S	probably damaging	Het
Rpap1	C	A	2: 119,783,865	R17L	probably damaging	Het
Rtn1	C	T	12: 72,217,458	V192I	possibly damaging	Het
Ryr2	G	A	13: 11,752,218	P1262L	probably damaging	Het
Slc4a7	G	T	14: 14,757,342	D396Y	probably damaging	Het
Slc5a8	T	C	10: 88,892,024	Y118H	probably damaging	Het
Slc7a6os	T	A	8: 106,210,615	Q71L	probably benign	Het
Sphkap	A	G	1: 83,288,817	V127A	probably damaging	Het
Srpk1	A	G	17: 28,591,225	S580P	probably damaging	Het
Syne2	A	G	12: 75,979,819	I3474V	probably damaging	Het
Tchh	A	G	3: 93,443,823	D190G	possibly damaging	Het
Tenm4	T	A	7: 96,905,818		probably null	Het
Tex14	T	A	11: 87,486,295	I155N	possibly damaging	Het
Tm7sf3	A	T	6: 146,609,860	V377E	possibly damaging	Het
Tnfsf9	T	A	17: 57,105,433	M1K	probably null	Het
Tns2	C	T	15: 102,112,039	T780I	probably damaging	Het
Trdn	T	A	10: 33,471,579	D639E	probably benign	Het
Trmt10a	A	G	3: 138,152,211	E173G	possibly damaging	Het
Ttn	G	A	2: 76,818,775	P10984S	possibly damaging	Het
Tubb6	C	T	18: 67,401,316	T95M	possibly damaging	Het
Uroc1	G	T	6: 90,357,537	R577L	probably damaging	Het
Vmn2r86	T	A	10: 130,453,615	D137V	probably benign	Het
Xkr7	T	C	2: 153,054,953	Y576H	probably damaging	Het
Zfp410	A	G	12: 84,337,675	N355D	probably damaging	Het
Zfp59	C	A	7: 27,844,317	D22E	probably damaging	Het
Zfp64	C	T	2: 168,894,377	R460H	probably damaging	Het
Zfp655	T	C	5: 145,244,358	V342A	probably damaging	Het
Zfp990	G	A	4: 145,537,920	G496E	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
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
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
R9659:Pcsk5	UTSW	19	17477881	missense	probably benign	0.00
R9788:Pcsk5	UTSW	19	17477881	missense	probably benign	0.00
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'- ACCGCTGCACTTGTCACAAG -3'
(R):5'- AAGCAGAGCCTGTTCAACC -3'

Sequencing Primer
(F):5'- TGTCACAAGTGGGGTGGCAC -3'
(R):5'- GTGGCTTCCATACCTGATCAAGG -3'

Posted On

2016-09-26