Mutagenetix > Incidental Mutation

Incidental Mutation 'R8739:Pcsk5'

663256

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

068586-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8739 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17409683-17814996 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 17432138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1492 (H1492Q)

Ref Sequence

ENSEMBL: ENSMUSP00000025618 (fasta)

Gene Model

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

AlphaFold

Q04592

Predicted Effect

probably benign
Transcript: ENSMUST00000025618
AA Change: H1492Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000025618
Gene: ENSMUSG00000024713
AA Change: H1492Q

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

0.0846

Coding Region Coverage

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

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	T	C	8: 41,133,480 (GRCm39)	V316A	possibly damaging	Het
Adamts9	T	C	6: 92,831,261 (GRCm39)	E1364G	probably benign	Het
Agrn	C	T	4: 156,257,045 (GRCm39)	R1233Q	probably benign	Het
Ankrd6	A	G	4: 32,806,337 (GRCm39)	S639P	possibly damaging	Het
Arid5a	A	G	1: 36,358,677 (GRCm39)	N418S	probably benign	Het
Cep152	T	C	2: 125,461,975 (GRCm39)	E69G	probably benign	Het
Chrnb2	A	G	3: 89,669,746 (GRCm39)	S109P	probably damaging	Het
Chuk	A	G	19: 44,077,135 (GRCm39)	S404P	probably benign	Het
Clec4a3	T	C	6: 122,944,508 (GRCm39)	Y185H	probably damaging	Het
Dctd	T	A	8: 48,591,883 (GRCm39)	L149H	probably benign	Het
Dgkb	T	A	12: 38,278,323 (GRCm39)		probably benign	Het
Dhrs13	G	C	11: 77,923,492 (GRCm39)	R70P	possibly damaging	Het
Dnah5	G	A	15: 28,346,006 (GRCm39)	A2449T	probably benign	Het
Dync1h1	T	C	12: 110,581,014 (GRCm39)	V247A	probably damaging	Het
Eef1ece2	G	A	16: 20,449,665 (GRCm39)		probably benign	Het
Espnl	T	A	1: 91,272,317 (GRCm39)	L559Q	probably damaging	Het
Gak	A	G	5: 108,739,604 (GRCm39)	V627A	possibly damaging	Het
Gcnt1	A	T	19: 17,307,437 (GRCm39)	M96K	probably benign	Het
Ggta1	T	C	2: 35,292,572 (GRCm39)	D245G	probably damaging	Het
Hfm1	A	T	5: 107,046,371 (GRCm39)	F505Y	probably damaging	Het
Inpp4a	A	G	1: 37,422,207 (GRCm39)		probably benign	Het
Kcnj14	C	G	7: 45,468,812 (GRCm39)	R231P	probably damaging	Het
Lamc2	A	T	1: 153,020,399 (GRCm39)	C382*	probably null	Het
Marveld3	T	C	8: 110,688,609 (GRCm39)	E44G	possibly damaging	Het
Mettl17	T	C	14: 52,128,848 (GRCm39)	F373L	possibly damaging	Het
Morc3	T	A	16: 93,657,398 (GRCm39)	L374Q	probably damaging	Het
Muc16	C	T	9: 18,548,594 (GRCm39)	D5900N	probably benign	Het
Myo15a	A	G	11: 60,368,088 (GRCm39)	N283D	probably benign	Het
Ncapg2	T	G	12: 116,379,098 (GRCm39)	D197E	possibly damaging	Het
Nipbl	T	C	15: 8,332,904 (GRCm39)	T2240A	probably benign	Het
Nrip1	A	C	16: 76,088,236 (GRCm39)	V1107G	possibly damaging	Het
Or13a19	T	C	7: 139,902,647 (GRCm39)	F12L	probably damaging	Het
Or4d5	G	A	9: 40,012,636 (GRCm39)	T50I	probably benign	Het
Or4f52	C	A	2: 111,061,834 (GRCm39)	M101I	probably benign	Het
Pcdhb11	T	A	18: 37,555,549 (GRCm39)	I293K	probably damaging	Het
Pdcd4	T	A	19: 53,899,405 (GRCm39)	Y131*	probably null	Het
Pdf	T	A	8: 107,773,796 (GRCm39)	M216L	probably damaging	Het
Pira13	A	T	7: 3,828,188 (GRCm39)	S40T		Het
Plch1	T	C	3: 63,778,106 (GRCm39)	H17R	possibly damaging	Het
Prkdc	T	G	16: 15,626,068 (GRCm39)	S3365A	probably benign	Het
Rab3c	T	C	13: 110,397,135 (GRCm39)	T44A	probably damaging	Het
Rad17	T	C	13: 100,765,998 (GRCm39)	T377A	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf215	T	G	11: 4,085,959 (GRCm39)		probably null	Het
Sec31b	G	A	19: 44,507,620 (GRCm39)	T808I	probably benign	Het
Selenbp1	A	T	3: 94,844,601 (GRCm39)	D86V	probably damaging	Het
Smurf2	G	T	11: 106,743,322 (GRCm39)	Y241*	probably null	Het
Spint1	T	C	2: 119,079,286 (GRCm39)	V456A	possibly damaging	Het
Spmap2	G	T	10: 79,419,581 (GRCm39)	N240K	possibly damaging	Het
Stx5a	A	T	19: 8,725,924 (GRCm39)	I175F	probably damaging	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tfb1m	T	C	17: 3,569,927 (GRCm39)	E313G	probably benign	Het
Thrb	A	G	14: 17,963,082 (GRCm38)	D15G	probably benign	Het
Tln2	T	C	9: 67,165,555 (GRCm39)	K1045R	probably damaging	Het
Tmx2	T	C	2: 84,505,745 (GRCm39)		probably benign	Het
Trabd	T	C	15: 88,969,152 (GRCm39)	I192T	probably damaging	Het
Try5	T	A	6: 41,288,637 (GRCm39)	D194V	probably damaging	Het
Ttc21a	A	G	9: 119,796,371 (GRCm39)	N1263S	probably benign	Het
Ttll13	T	C	7: 79,902,923 (GRCm39)	I197T	probably damaging	Het
Virma	T	C	4: 11,540,643 (GRCm39)		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
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'- AAAGGGCAGAGTGTGATGTTTC -3'
(R):5'- CTTTCTCACAGTGTGGCGTG -3'

Sequencing Primer
(F):5'- AGAGTGTGATGTTTCTTCTATCATCC -3'
(R):5'- ATTCCCTTGGCACAGAGC -3'

Posted On

2021-03-08