Mutagenetix > Incidental Mutation

Incidental Mutation 'R6998:Pcsk5'

544372

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17432832-17837632 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17473112 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1124 (D1124G)

Ref Sequence

ENSEMBL: ENSMUSP00000025618 (fasta)

Gene Model

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

AlphaFold

Q04592

Predicted Effect

probably benign
Transcript: ENSMUST00000025618
AA Change: D1124G

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000025618
Gene: ENSMUSG00000024713
AA Change: D1124G

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,162,710	R620G	probably benign	Het
Adcy1	A	C	11: 7,079,026	N259H	probably damaging	Het
Ahctf1	G	A	1: 179,770,915	R2*	probably null	Het
Akr1c21	A	G	13: 4,583,851	I306M	probably benign	Het
Alg9	T	A	9: 50,789,621	S230R	possibly damaging	Het
Armt1	T	A	10: 4,453,937	C341S	probably benign	Het
Aspg	T	A	12: 112,112,194	L29M	probably damaging	Het
Aspm	C	T	1: 139,469,472	T934I	probably damaging	Het
C1rl	T	C	6: 124,508,902	S411P	probably damaging	Het
Card14	A	G	11: 119,322,899	E224G	probably damaging	Het
Ccdc88c	T	C	12: 100,916,852	H1587R	probably damaging	Het
Ccp110	A	G	7: 118,732,897	T963A	possibly damaging	Het
Cdk11b	G	A	4: 155,648,343	W546*	probably null	Het
Cyp8b1	T	C	9: 121,915,993	N91S	probably benign	Het
Dab2	G	T	15: 6,424,649	M213I	possibly damaging	Het
Decr1	A	G	4: 15,930,960	V124A	probably damaging	Het
Fbxl13	T	A	5: 21,543,689	I411F	probably damaging	Het
Fbxl13	T	C	5: 21,620,613	I164V	probably null	Het
Fndc7	G	A	3: 108,876,648	A215V	probably benign	Het
Garem2	T	C	5: 30,114,170	M210T	possibly damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Ighv1-52	C	A	12: 115,145,492	A115S	probably benign	Het
Igkv6-13	A	G	6: 70,457,589	S91P	probably damaging	Het
Ints8	T	A	4: 11,204,537	E973V	possibly damaging	Het
Itga3	T	C	11: 95,051,462	K972R	probably benign	Het
Klhl33	A	T	14: 50,893,021	F339I	probably benign	Het
Krt79	T	C	15: 101,937,872	M214V	probably benign	Het
Lgsn	A	T	1: 31,204,193	H452L	probably benign	Het
Limd2	C	T	11: 106,158,690	G124D	probably benign	Het
Luzp1	T	C	4: 136,543,444	S993P	probably damaging	Het
Maml2	C	T	9: 13,621,185		probably benign	Het
Mbtd1	A	T	11: 93,924,612	H342L	probably damaging	Het
Mfhas1	C	A	8: 35,591,356	P995Q	probably damaging	Het
Muc5ac	T	C	7: 141,818,714	F3399S	possibly damaging	Het
Napb	T	C	2: 148,700,425	Y205C	probably damaging	Het
Odf2	G	T	2: 29,912,617	A298S	probably benign	Het
Olfr1082	A	T	2: 86,594,144	M228K	probably damaging	Het
Olfr1193	A	T	2: 88,678,508	I218F	probably benign	Het
Olfr740	A	T	14: 50,453,433	Y127F	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pik3c2b	T	G	1: 133,102,372	I1457S	probably benign	Het
Pole2	T	C	12: 69,213,906	T167A	possibly damaging	Het
Rfx7	T	A	9: 72,618,505	S992R	probably damaging	Het
Ryr2	G	T	13: 11,712,166	S2436R	probably damaging	Het
Sgo2a	A	G	1: 58,016,640	D661G	probably damaging	Het
Sh3glb2	T	A	2: 30,355,321	T49S	probably damaging	Het
Slc16a10	T	C	10: 40,056,503	K354R	possibly damaging	Het
Slc6a6	C	A	6: 91,752,438	T568K	probably benign	Het
Sptbn1	T	C	11: 30,100,633	T2319A	probably damaging	Het
Tbl1xr1	T	A	3: 22,179,290	Y15N	probably damaging	Het
Thyn1	T	C	9: 27,006,442	S160P	probably damaging	Het
Tshz1	A	T	18: 84,015,841	D147E	probably benign	Het
Vmn2r50	T	G	7: 10,037,757	R672S	probably benign	Het
Zfp663	A	T	2: 165,354,002	I99N	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
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
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'- TGGACCTCCCTCTAGCAGATAC -3'
(R):5'- TATCTGGCTTTGCATAGCACC -3'

Sequencing Primer
(F):5'- GCAGATACATACCATTCCAGTCCTTG -3'
(R):5'- GAAGATGTAGAACTCTCAGCTCTGC -3'

Posted On

2019-05-13