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

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

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

17409683-17814996 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17425054 bp (GRCm39)

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
2610021A01Rik	T	C	7: 41,276,529 (GRCm39)	I744T	possibly damaging	Het
Adgrb1	T	A	15: 74,458,871 (GRCm39)	F1324L	possibly damaging	Het
Adm	A	G	7: 110,228,326 (GRCm39)	H230R	probably benign	Het
Ank2	A	T	3: 126,840,475 (GRCm39)		probably null	Het
Arih1	A	T	9: 59,344,168 (GRCm39)	F156L	possibly damaging	Het
Atf6b	A	G	17: 34,873,529 (GRCm39)	H660R	probably damaging	Het
Bcl9l	C	A	9: 44,420,007 (GRCm39)	Q1101K	probably benign	Het
Ccdc174	G	A	6: 91,876,572 (GRCm39)		probably benign	Het
Ccdc65	A	C	15: 98,620,538 (GRCm39)		probably null	Het
Cela2a	T	C	4: 141,549,598 (GRCm39)	N59S	probably benign	Het
Cfap157	A	T	2: 32,668,261 (GRCm39)	V393E	probably damaging	Het
Chd1	T	C	17: 17,594,916 (GRCm39)	F17S	probably damaging	Het
Cpne3	T	C	4: 19,540,827 (GRCm39)	I183V	probably benign	Het
Cyp2d11	C	A	15: 82,276,306 (GRCm39)	V122L	probably benign	Het
Dcaf8	C	A	1: 172,015,056 (GRCm39)		probably benign	Het
Dchs1	T	A	7: 105,404,937 (GRCm39)	D2535V	probably benign	Het
Eif4a2	G	T	16: 22,927,650 (GRCm39)		probably benign	Het
Fzd4	T	A	7: 89,057,109 (GRCm39)	D385E	probably benign	Het
Galnt13	C	A	2: 54,950,584 (GRCm39)	Q422K	probably damaging	Het
Gnptab	C	T	10: 88,268,413 (GRCm39)	Q507*	probably null	Het
Hoxa7	A	G	6: 52,194,014 (GRCm39)		probably benign	Het
Htra1	T	A	7: 130,563,813 (GRCm39)	V228D	probably damaging	Het
Idi2l	A	T	13: 8,990,702 (GRCm39)		probably null	Het
Ifi203	T	A	1: 173,756,716 (GRCm39)		probably benign	Het
Iqca1l	T	C	5: 24,754,750 (GRCm39)	D340G	probably benign	Het
Irs1	TGGGGTGGACATCGAACTGAAGGAG	TG	1: 82,265,453 (GRCm39)	913	probably null	Het
Itga2b	G	T	11: 102,348,548 (GRCm39)		probably benign	Het
Itgb1	G	T	8: 129,442,631 (GRCm39)	R272L	probably damaging	Het
Kif9	A	G	9: 110,330,703 (GRCm39)	E343G	probably damaging	Het
Klhl5	T	C	5: 65,316,244 (GRCm39)	V97A	probably damaging	Het
Lama5	C	A	2: 179,818,861 (GRCm39)		probably benign	Het
Lamb2	A	G	9: 108,361,226 (GRCm39)		probably null	Het
Lrp1b	T	A	2: 41,660,931 (GRCm39)	Y59F	probably benign	Het
Mmrn1	A	G	6: 60,953,423 (GRCm39)	E568G	probably benign	Het
Mreg	A	G	1: 72,201,495 (GRCm39)	Y166H	probably damaging	Het
Myh7	C	A	14: 55,216,045 (GRCm39)	V1323F	probably benign	Het
Nr1i3	T	A	1: 171,043,951 (GRCm39)	I91K	probably damaging	Het
Nsfl1c	T	A	2: 151,348,230 (GRCm39)	D206E	probably damaging	Het
Or11g24	T	C	14: 50,662,758 (GRCm39)	Y261H	possibly damaging	Het
Or13c3	A	T	4: 52,856,411 (GRCm39)	M34K	probably damaging	Het
Or2ak5	G	A	11: 58,611,107 (GRCm39)	L256F	probably benign	Het
Or4k44	A	T	2: 111,367,698 (GRCm39)	L312*	probably null	Het
Or5k17	A	C	16: 58,746,463 (GRCm39)	L157W	probably damaging	Het
Or8b54	T	A	9: 38,686,843 (GRCm39)	C97*	probably null	Het
Pcdhb7	C	T	18: 37,475,284 (GRCm39)	T140I	probably benign	Het
Pcdhgb5	T	G	18: 37,865,641 (GRCm39)	S479A	probably benign	Het
Pias1	T	C	9: 62,820,080 (GRCm39)	R296G	probably benign	Het
Plscr1l1	A	G	9: 92,236,665 (GRCm39)	E108G	probably damaging	Het
Polr1e	T	A	4: 45,022,280 (GRCm39)	C100S	probably damaging	Het
Rpap1	C	A	2: 119,614,346 (GRCm39)	R17L	probably damaging	Het
Rtn1	C	T	12: 72,264,232 (GRCm39)	V192I	possibly damaging	Het
Ryr2	G	A	13: 11,767,104 (GRCm39)	P1262L	probably damaging	Het
Slc4a7	G	T	14: 14,757,342 (GRCm38)	D396Y	probably damaging	Het
Slc5a8	T	C	10: 88,727,886 (GRCm39)	Y118H	probably damaging	Het
Slc7a6os	T	A	8: 106,937,247 (GRCm39)	Q71L	probably benign	Het
Sphkap	A	G	1: 83,266,538 (GRCm39)	V127A	probably damaging	Het
Srpk1	A	G	17: 28,810,199 (GRCm39)	S580P	probably damaging	Het
Syne2	A	G	12: 76,026,593 (GRCm39)	I3474V	probably damaging	Het
Tchh	A	G	3: 93,351,130 (GRCm39)	D190G	possibly damaging	Het
Tenm4	T	A	7: 96,555,025 (GRCm39)		probably null	Het
Tex14	T	A	11: 87,377,121 (GRCm39)	I155N	possibly damaging	Het
Tm7sf3	A	T	6: 146,511,358 (GRCm39)	V377E	possibly damaging	Het
Tnfsf9	T	A	17: 57,412,433 (GRCm39)	M1K	probably null	Het
Tns2	C	T	15: 102,020,474 (GRCm39)	T780I	probably damaging	Het
Trdn	T	A	10: 33,347,575 (GRCm39)	D639E	probably benign	Het
Trmt10a	A	G	3: 137,857,972 (GRCm39)	E173G	possibly damaging	Het
Ttn	G	A	2: 76,649,119 (GRCm39)	P10984S	possibly damaging	Het
Tubb6	C	T	18: 67,534,386 (GRCm39)	T95M	possibly damaging	Het
Uroc1	G	T	6: 90,334,519 (GRCm39)	R577L	probably damaging	Het
Vmn2r86	T	A	10: 130,289,484 (GRCm39)	D137V	probably benign	Het
Xkr7	T	C	2: 152,896,873 (GRCm39)	Y576H	probably damaging	Het
Zfp410	A	G	12: 84,384,449 (GRCm39)	N355D	probably damaging	Het
Zfp59	C	A	7: 27,543,742 (GRCm39)	D22E	probably damaging	Het
Zfp64	C	T	2: 168,736,297 (GRCm39)	R460H	probably damaging	Het
Zfp655	T	C	5: 145,181,168 (GRCm39)	V342A	probably damaging	Het
Zfp990	G	A	4: 145,264,490 (GRCm39)	G496E	probably benign	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
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
R9041:Pcsk5	UTSW	19	17,538,132 (GRCm39)	nonsense	probably null
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'- ACCGCTGCACTTGTCACAAG -3'
(R):5'- AAGCAGAGCCTGTTCAACC -3'

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

Posted On

2016-09-26