Mutagenetix > Incidental Mutation

Incidental Mutation 'R9041:Pcsk5'

687759

Institutional Source

Beutler Lab

Gene Symbol

Pcsk5

Ensembl Gene

ENSMUSG00000024713

Gene Name

proprotein convertase subtilisin/kexin type 5

Synonyms

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

MMRRC Submission

068868-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9041 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17409683-17814996 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 17538132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 898 (C898*)

Ref Sequence

ENSEMBL: ENSMUSP00000050272 (fasta)

Gene Model

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

AlphaFold

Q04592

Predicted Effect

probably benign
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
AA Change: C898*

SMART Domains

Protein: ENSMUSP00000050272
Gene: ENSMUSG00000024713
AA Change: C898*

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

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,062,054 (GRCm39)	I168T	probably benign	Het
Acvr2b	G	T	9: 119,257,052 (GRCm39)	E94*	probably null	Het
Adcy8	A	T	15: 64,609,287 (GRCm39)	I874N	probably benign	Het
Ahcyl	T	G	16: 45,974,468 (GRCm39)	D303A	possibly damaging	Het
Angptl1	G	T	1: 156,685,999 (GRCm39)	D362Y	probably damaging	Het
Arc	A	G	15: 74,543,896 (GRCm39)	V109A	probably damaging	Het
Asphd2	T	A	5: 112,539,768 (GRCm39)	T22S	probably benign	Het
Caprin2	A	T	6: 148,771,030 (GRCm39)	N321K	probably benign	Het
Carmil1	T	C	13: 24,282,793 (GRCm39)	D547G	possibly damaging	Het
Cd38	G	A	5: 44,058,899 (GRCm39)		probably null	Het
Cd3g	A	G	9: 44,884,818 (GRCm39)	V142A	possibly damaging	Het
Chrna6	A	T	8: 27,896,923 (GRCm39)	I318N	probably damaging	Het
Cmah	T	C	13: 24,641,004 (GRCm39)		probably null	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cplx4	T	C	18: 66,103,097 (GRCm39)	M8V	probably damaging	Het
Dnajc19	T	C	3: 34,134,282 (GRCm39)	K27R	probably damaging	Het
E2f3	C	A	13: 30,093,939 (GRCm39)	D441Y	probably damaging	Het
Erap1	A	G	13: 74,822,818 (GRCm39)	K777R	probably benign	Het
Fastkd1	C	T	2: 69,532,715 (GRCm39)	V551I	probably benign	Het
Fgd5	A	G	6: 91,964,427 (GRCm39)	E220G	probably benign	Het
Gal3st2	T	C	1: 93,800,206 (GRCm39)	V19A	possibly damaging	Het
Ghr	T	C	15: 3,357,530 (GRCm39)	E246G	probably benign	Het
Gm10228	A	T	16: 88,838,113 (GRCm39)	Y64N	unknown	Het
Gsdmc4	T	C	15: 63,774,586 (GRCm39)	N65S	probably benign	Het
Heatr5b	C	A	17: 79,103,861 (GRCm39)	A1105S	probably benign	Het
Hipk2	A	T	6: 38,724,909 (GRCm39)	L376*	probably null	Het
Il6st	A	G	13: 112,611,631 (GRCm39)	T18A	probably benign	Het
Kif3b	T	C	2: 153,159,468 (GRCm39)	I423T	probably benign	Het
Klf17	T	C	4: 117,617,556 (GRCm39)	Y267C	probably damaging	Het
Kntc1	A	G	5: 123,927,093 (GRCm39)	T1183A	probably benign	Het
Lrrc71	A	G	3: 87,650,660 (GRCm39)	S201P	probably damaging	Het
Mrgprb5	A	T	7: 47,818,509 (GRCm39)	D75E	probably damaging	Het
Myef2l	T	C	3: 10,157,353 (GRCm39)	*499Q	probably null	Het
Myf6	A	G	10: 107,329,225 (GRCm39)	V240A	probably benign	Het
Ncoa6	T	C	2: 155,257,450 (GRCm39)	M698V	possibly damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Nynrin	T	C	14: 56,108,753 (GRCm39)	S1287P	possibly damaging	Het
Or10ab5	A	G	7: 108,245,589 (GRCm39)	S65P	probably damaging	Het
Otud4	T	A	8: 80,400,441 (GRCm39)	S1052T	probably damaging	Het
Pdcd1	T	C	1: 93,969,091 (GRCm39)	T76A	probably benign	Het
Plin2	T	A	4: 86,578,504 (GRCm39)	M198L	probably benign	Het
Prmt7	T	A	8: 106,963,460 (GRCm39)	V180D	possibly damaging	Het
R3hdm2	T	C	10: 127,320,405 (GRCm39)	Y549H	probably damaging	Het
Rad54l2	A	G	9: 106,600,018 (GRCm39)	S80P	possibly damaging	Het
Ryr3	T	A	2: 112,787,546 (GRCm39)	E235D	probably damaging	Het
Scart1	T	C	7: 139,808,503 (GRCm39)	C805R	probably damaging	Het
Serpina9	A	T	12: 103,967,737 (GRCm39)	S219R		Het
Sesn2	G	A	4: 132,225,272 (GRCm39)	T298I	probably benign	Het
Sf3b2	A	T	19: 5,324,872 (GRCm39)	V838E	possibly damaging	Het
Sfpq	C	A	4: 126,915,296 (GRCm39)	H29Q	unknown	Het
Smchd1	A	G	17: 71,701,710 (GRCm39)		probably null	Het
Sprr1b	A	G	3: 92,344,477 (GRCm39)	V133A	probably benign	Het
Srgap3	T	C	6: 112,754,054 (GRCm39)	Y243C	probably damaging	Het
Thop1	C	T	10: 80,917,228 (GRCm39)	A577V	possibly damaging	Het
Tmprss3	T	A	17: 31,410,014 (GRCm39)	D200V	probably benign	Het
Treh	A	T	9: 44,596,677 (GRCm39)	K512M	probably damaging	Het
Trip11	A	G	12: 101,845,127 (GRCm39)	V1537A	probably benign	Het
Trp63	A	G	16: 25,582,083 (GRCm39)	T44A	probably benign	Het
Vmn1r225	T	A	17: 20,722,577 (GRCm39)	M6K	possibly damaging	Het
Vmn2r90	A	C	17: 17,954,286 (GRCm39)	M817L	probably benign	Het
Zfp68	A	T	5: 138,604,699 (GRCm39)	Y541*	probably null	Het

Other mutations in Pcsk5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Pcsk5	APN	19	17,488,785 (GRCm39)	missense	possibly damaging	0.49
IGL00423:Pcsk5	APN	19	17,619,923 (GRCm39)	missense	probably benign	0.23
IGL01315:Pcsk5	APN	19	17,429,322 (GRCm39)	missense	probably damaging	1.00
IGL01372:Pcsk5	APN	19	17,595,108 (GRCm39)	missense	probably damaging	1.00
IGL01738:Pcsk5	APN	19	17,411,144 (GRCm39)	splice site	probably benign
IGL01874:Pcsk5	APN	19	17,573,041 (GRCm39)	missense	probably damaging	0.96
IGL02070:Pcsk5	APN	19	17,416,406 (GRCm39)	missense	probably benign	0.25
IGL02311:Pcsk5	APN	19	17,410,784 (GRCm39)	nonsense	probably null
IGL02436:Pcsk5	APN	19	17,542,072 (GRCm39)	critical splice donor site	probably null
IGL02498:Pcsk5	APN	19	17,488,920 (GRCm39)	missense	probably damaging	0.99
IGL02504:Pcsk5	APN	19	17,455,236 (GRCm39)	critical splice donor site	probably null
IGL02664:Pcsk5	APN	19	17,434,134 (GRCm39)	missense	probably damaging	1.00
IGL02735:Pcsk5	APN	19	17,652,832 (GRCm39)	missense	probably damaging	1.00
IGL02941:Pcsk5	APN	19	17,424,865 (GRCm39)	missense	probably damaging	1.00
PIT4377001:Pcsk5	UTSW	19	17,416,466 (GRCm39)	missense	probably damaging	1.00
R0007:Pcsk5	UTSW	19	17,632,225 (GRCm39)	missense	probably damaging	1.00
R0007:Pcsk5	UTSW	19	17,632,225 (GRCm39)	missense	probably damaging	1.00
R0032:Pcsk5	UTSW	19	17,542,179 (GRCm39)	missense	possibly damaging	0.81
R0032:Pcsk5	UTSW	19	17,542,179 (GRCm39)	missense	possibly damaging	0.81
R0373:Pcsk5	UTSW	19	17,632,213 (GRCm39)	missense	probably damaging	1.00
R0784:Pcsk5	UTSW	19	17,692,133 (GRCm39)	missense	probably benign	0.06
R0843:Pcsk5	UTSW	19	17,632,182 (GRCm39)	missense	probably damaging	1.00
R1014:Pcsk5	UTSW	19	17,542,194 (GRCm39)	missense	probably damaging	1.00
R1221:Pcsk5	UTSW	19	17,814,512 (GRCm39)	missense	possibly damaging	0.85
R1435:Pcsk5	UTSW	19	17,541,246 (GRCm39)	nonsense	probably null
R1471:Pcsk5	UTSW	19	17,545,688 (GRCm39)	missense	probably damaging	1.00
R1564:Pcsk5	UTSW	19	17,632,120 (GRCm39)	missense	probably damaging	1.00
R1597:Pcsk5	UTSW	19	17,413,964 (GRCm39)	missense	probably benign	0.00
R1614:Pcsk5	UTSW	19	17,492,620 (GRCm39)	missense	probably damaging	1.00
R1661:Pcsk5	UTSW	19	17,424,938 (GRCm39)	missense	probably damaging	0.98
R1671:Pcsk5	UTSW	19	17,432,232 (GRCm39)	missense	probably damaging	1.00
R1703:Pcsk5	UTSW	19	17,729,458 (GRCm39)	missense	probably benign	0.15
R1793:Pcsk5	UTSW	19	17,432,114 (GRCm39)	missense	possibly damaging	0.83
R1855:Pcsk5	UTSW	19	17,492,556 (GRCm39)	missense	possibly damaging	0.93
R1909:Pcsk5	UTSW	19	17,410,825 (GRCm39)	missense	probably benign	0.00
R1959:Pcsk5	UTSW	19	17,410,782 (GRCm39)	missense	unknown
R2006:Pcsk5	UTSW	19	17,455,280 (GRCm39)	missense	probably benign	0.32
R2045:Pcsk5	UTSW	19	17,558,508 (GRCm39)	missense	possibly damaging	0.48
R2061:Pcsk5	UTSW	19	17,432,236 (GRCm39)	missense	probably benign	0.03
R2110:Pcsk5	UTSW	19	17,450,423 (GRCm39)	missense	probably damaging	1.00
R2402:Pcsk5	UTSW	19	17,452,198 (GRCm39)	nonsense	probably null
R2496:Pcsk5	UTSW	19	17,443,522 (GRCm39)	nonsense	probably null
R4115:Pcsk5	UTSW	19	17,410,783 (GRCm39)	missense	unknown
R4504:Pcsk5	UTSW	19	17,429,319 (GRCm39)	missense	probably damaging	1.00
R4616:Pcsk5	UTSW	19	17,538,114 (GRCm39)	missense	probably benign	0.00
R4683:Pcsk5	UTSW	19	17,450,405 (GRCm39)	missense	probably damaging	1.00
R4717:Pcsk5	UTSW	19	17,502,631 (GRCm39)	missense	probably damaging	1.00
R4761:Pcsk5	UTSW	19	17,814,512 (GRCm39)	missense	possibly damaging	0.85
R4789:Pcsk5	UTSW	19	17,410,963 (GRCm39)	missense	probably benign	0.09
R4880:Pcsk5	UTSW	19	17,425,054 (GRCm39)	missense	probably damaging	1.00
R5100:Pcsk5	UTSW	19	17,492,499 (GRCm39)	critical splice donor site	probably null
R5114:Pcsk5	UTSW	19	17,652,949 (GRCm39)	missense	probably damaging	1.00
R5116:Pcsk5	UTSW	19	17,440,798 (GRCm39)	missense	possibly damaging	0.87
R5193:Pcsk5	UTSW	19	17,542,174 (GRCm39)	missense	possibly damaging	0.79
R5279:Pcsk5	UTSW	19	17,573,022 (GRCm39)	splice site	probably null
R5334:Pcsk5	UTSW	19	17,439,215 (GRCm39)	missense	probably benign	0.00
R5369:Pcsk5	UTSW	19	17,558,619 (GRCm39)	missense	probably damaging	1.00
R5451:Pcsk5	UTSW	19	17,440,720 (GRCm39)	missense	possibly damaging	0.91
R5547:Pcsk5	UTSW	19	17,729,488 (GRCm39)	missense	probably benign	0.08
R5630:Pcsk5	UTSW	19	17,553,195 (GRCm39)	missense	probably benign	0.04
R5805:Pcsk5	UTSW	19	17,434,193 (GRCm39)	missense	probably benign	0.01
R6063:Pcsk5	UTSW	19	17,432,045 (GRCm39)	critical splice donor site	probably null
R6130:Pcsk5	UTSW	19	17,488,920 (GRCm39)	missense	probably damaging	0.99
R6153:Pcsk5	UTSW	19	17,488,856 (GRCm39)	missense	probably damaging	0.98
R6163:Pcsk5	UTSW	19	17,450,405 (GRCm39)	missense	probably damaging	1.00
R6164:Pcsk5	UTSW	19	17,814,317 (GRCm39)	critical splice donor site	probably null
R6228:Pcsk5	UTSW	19	17,558,631 (GRCm39)	missense	possibly damaging	0.91
R6426:Pcsk5	UTSW	19	17,595,093 (GRCm39)	missense	probably damaging	1.00
R6601:Pcsk5	UTSW	19	17,488,744 (GRCm39)	missense	probably benign	0.00
R6648:Pcsk5	UTSW	19	17,553,185 (GRCm39)	missense	probably damaging	0.99
R6789:Pcsk5	UTSW	19	17,434,150 (GRCm39)	missense	possibly damaging	0.93
R6807:Pcsk5	UTSW	19	17,549,986 (GRCm39)	splice site	probably null
R6837:Pcsk5	UTSW	19	17,416,448 (GRCm39)	missense	probably benign	0.01
R6998:Pcsk5	UTSW	19	17,450,476 (GRCm39)	missense	probably benign	0.20
R7051:Pcsk5	UTSW	19	17,411,095 (GRCm39)	missense	probably benign	0.00
R7164:Pcsk5	UTSW	19	17,429,349 (GRCm39)	missense	probably damaging	1.00
R7173:Pcsk5	UTSW	19	17,455,241 (GRCm39)	missense	possibly damaging	0.85
R7348:Pcsk5	UTSW	19	17,434,182 (GRCm39)	nonsense	probably null
R7360:Pcsk5	UTSW	19	17,492,577 (GRCm39)	missense	probably benign	0.00
R7407:Pcsk5	UTSW	19	17,652,880 (GRCm39)	missense	probably damaging	1.00
R7447:Pcsk5	UTSW	19	17,487,600 (GRCm39)	missense	probably benign	0.31
R7521:Pcsk5	UTSW	19	17,432,196 (GRCm39)	missense	probably benign	0.29
R7525:Pcsk5	UTSW	19	17,619,954 (GRCm39)	missense	probably damaging	1.00
R7560:Pcsk5	UTSW	19	17,814,336 (GRCm39)	missense	probably benign	0.01
R7566:Pcsk5	UTSW	19	17,549,821 (GRCm39)	missense	probably benign
R7631:Pcsk5	UTSW	19	17,542,144 (GRCm39)	missense	probably damaging	1.00
R7654:Pcsk5	UTSW	19	17,434,168 (GRCm39)	missense	possibly damaging	0.46
R7677:Pcsk5	UTSW	19	17,558,593 (GRCm39)	missense	possibly damaging	0.59
R7711:Pcsk5	UTSW	19	17,416,444 (GRCm39)	missense	possibly damaging	0.82
R7903:Pcsk5	UTSW	19	17,549,847 (GRCm39)	missense	probably damaging	0.98
R7938:Pcsk5	UTSW	19	17,443,549 (GRCm39)	critical splice acceptor site	probably null
R8025:Pcsk5	UTSW	19	17,538,415 (GRCm39)	intron	probably benign
R8032:Pcsk5	UTSW	19	17,692,151 (GRCm39)	missense	probably damaging	0.98
R8064:Pcsk5	UTSW	19	17,692,225 (GRCm39)	missense	probably damaging	1.00
R8115:Pcsk5	UTSW	19	17,487,530 (GRCm39)	critical splice donor site	probably null
R8193:Pcsk5	UTSW	19	17,563,415 (GRCm39)	missense	possibly damaging	0.64
R8408:Pcsk5	UTSW	19	17,410,809 (GRCm39)	missense	probably benign	0.00
R8466:Pcsk5	UTSW	19	17,549,864 (GRCm39)	nonsense	probably null
R8739:Pcsk5	UTSW	19	17,432,138 (GRCm39)	missense	probably benign	0.00
R8753:Pcsk5	UTSW	19	17,446,408 (GRCm39)	missense	probably benign	0.00
R8797:Pcsk5	UTSW	19	17,443,472 (GRCm39)	missense	probably benign	0.00
R8944:Pcsk5	UTSW	19	17,452,275 (GRCm39)	missense	probably damaging	0.96
R9135:Pcsk5	UTSW	19	17,563,472 (GRCm39)	missense
R9288:Pcsk5	UTSW	19	17,814,345 (GRCm39)	missense	probably benign	0.10
R9406:Pcsk5	UTSW	19	17,771,097 (GRCm39)	missense	probably benign	0.14
R9581:Pcsk5	UTSW	19	17,432,196 (GRCm39)	missense	probably benign
R9592:Pcsk5	UTSW	19	17,652,899 (GRCm39)	nonsense	probably null
R9659:Pcsk5	UTSW	19	17,455,245 (GRCm39)	missense	probably benign	0.00
R9788:Pcsk5	UTSW	19	17,455,245 (GRCm39)	missense	probably benign	0.00
X0023:Pcsk5	UTSW	19	17,452,236 (GRCm39)	missense	possibly damaging	0.66
X0063:Pcsk5	UTSW	19	17,424,968 (GRCm39)	missense	probably damaging	1.00
Z1088:Pcsk5	UTSW	19	17,440,738 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACAGTTCACCATCTCCCTG -3'
(R):5'- TGGACCAAATTCCCTCCTGG -3'

Sequencing Primer
(F):5'- TCCCTGCACAAACTTGAGATAGAGAG -3'
(R):5'- TGGGCCTGCTCCTGAATGAC -3'

Posted On

2021-11-19