Mutagenetix > Incidental Mutation

Incidental Mutation 'R9659:Pcsk5'

727482

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9659 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17409683-17814996 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17455245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1062 (Y1062H)

Ref Sequence

ENSEMBL: ENSMUSP00000025618 (fasta)

Gene Model

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

AlphaFold

Q04592

Predicted Effect

probably benign
Transcript: ENSMUST00000025618
AA Change: Y1062H

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

SMART Domains

Protein: ENSMUSP00000025618
Gene: ENSMUSG00000024713
AA Change: Y1062H

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: 99.9%
10x: 99.7%
20x: 99.2%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330070K13Rik	T	C	5: 130,407,876 (GRCm39)	I112V	unknown	Het
Adcy7	A	G	8: 89,045,733 (GRCm39)	T572A	probably benign	Het
Atad5	G	T	11: 79,980,542 (GRCm39)		probably benign	Het
C2cd2	A	G	16: 97,723,473 (GRCm39)	S15P	possibly damaging	Het
Cabp1	T	C	5: 115,311,187 (GRCm39)	D289G	possibly damaging	Het
Ccdc14	A	G	16: 34,541,913 (GRCm39)	I545V	probably damaging	Het
Cep295	C	A	9: 15,233,846 (GRCm39)	A2317S	probably benign	Het
Cerkl	T	C	2: 79,223,322 (GRCm39)	D133G	possibly damaging	Het
Cited4	T	G	4: 120,524,543 (GRCm39)	C182G	probably damaging	Het
Col6a5	T	A	9: 105,811,034 (GRCm39)	K828N	unknown	Het
Ear2	A	G	14: 44,340,705 (GRCm39)	Y121C	probably damaging	Het
Ect2l	C	T	10: 18,041,347 (GRCm39)	C369Y	possibly damaging	Het
Elapor1	G	A	3: 108,377,297 (GRCm39)	T387I	possibly damaging	Het
Ep300	A	G	15: 81,505,273 (GRCm39)	Y631C	unknown	Het
Ephb4	T	G	5: 137,363,743 (GRCm39)	Y583D	probably damaging	Het
Fbn2	C	G	18: 58,342,654 (GRCm39)	R75P	probably damaging	Het
Gabra2	T	C	5: 71,192,140 (GRCm39)	D63G	probably benign	Het
Gfra1	A	G	19: 58,441,652 (GRCm39)	M93T	probably damaging	Het
Gm21886	AGAGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGCAGACAGCAGGTGCTCACTGAGGCCTG	AGAGGCCTG	18: 80,132,776 (GRCm39)		probably benign	Het
Gm3604	A	T	13: 62,519,724 (GRCm39)	H10Q	possibly damaging	Het
Helz2	T	C	2: 180,882,025 (GRCm39)	D256G	probably benign	Het
Herc1	A	C	9: 66,307,185 (GRCm39)	I1002L	probably benign	Het
Hpgd	C	G	8: 56,772,075 (GRCm39)	C182W	probably damaging	Het
Htr5b	A	G	1: 121,455,428 (GRCm39)	L164P	possibly damaging	Het
Kmo	T	C	1: 175,486,085 (GRCm39)	F403L	probably damaging	Het
Ly75	C	A	2: 60,168,665 (GRCm39)	D748Y	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mipep	A	G	14: 61,083,893 (GRCm39)	T595A	probably damaging	Het
Muc6	T	C	7: 141,232,100 (GRCm39)	D968G	probably damaging	Het
Myo18b	T	C	5: 113,022,382 (GRCm39)	T337A	unknown	Het
Nlrp1b	T	A	11: 71,073,132 (GRCm39)	Q237L	possibly damaging	Het
Nr1h4	A	G	10: 89,314,638 (GRCm39)		probably null	Het
Nxph1	A	G	6: 9,247,418 (GRCm39)	T130A	probably damaging	Het
Or10al6	T	G	17: 38,082,880 (GRCm39)	F112C	probably damaging	Het
Or1l4	T	A	2: 37,091,897 (GRCm39)	C215S	possibly damaging	Het
Or4m1	A	G	14: 50,558,181 (GRCm39)	F37S	probably benign	Het
Or5p4	T	C	7: 107,680,745 (GRCm39)	V248A	probably damaging	Het
Or8g21	A	G	9: 38,906,296 (GRCm39)	V145A	possibly damaging	Het
Plch1	T	C	3: 63,681,136 (GRCm39)	I164V	probably benign	Het
Plekhh2	T	A	17: 84,854,892 (GRCm39)	M42K	possibly damaging	Het
Polr2a	T	C	11: 69,625,654 (GRCm39)	Y1832C	unknown	Het
Prpf4	G	A	4: 62,334,296 (GRCm39)		probably null	Het
Psg16	T	C	7: 16,824,524 (GRCm39)	S12P	possibly damaging	Het
Ptpn14	T	A	1: 189,587,174 (GRCm39)	M528K	probably benign	Het
Rb1cc1	T	A	1: 6,318,673 (GRCm39)	H697Q	probably benign	Het
Reg3a	T	G	6: 78,360,574 (GRCm39)	C171G	possibly damaging	Het
Slc22a26	G	A	19: 7,763,798 (GRCm39)	P412S	probably benign	Het
Spata31e5	G	T	1: 28,816,536 (GRCm39)	H499N	probably benign	Het
Tcstv2a	T	A	13: 120,725,754 (GRCm39)	D139E	probably damaging	Het
Tlk2	T	C	11: 105,131,263 (GRCm39)	I203T	probably benign	Het
Tmem120b	T	G	5: 123,253,788 (GRCm39)	H279Q	probably damaging	Het
Trip4	T	C	9: 65,740,702 (GRCm39)	E535G	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ubr5	A	T	15: 37,984,254 (GRCm39)	L2298I		Het
Utp20	A	G	10: 88,653,171 (GRCm39)	L303P	probably damaging	Het
Vcan	A	G	13: 89,839,860 (GRCm39)	Y1895H	probably damaging	Het
Vmn2r2	T	C	3: 64,041,942 (GRCm39)	N258D	possibly damaging	Het
Wdr20rt	A	T	12: 65,273,343 (GRCm39)	S269C	probably damaging	Het
Zfand4	T	G	6: 116,282,588 (GRCm39)	Y54D	probably damaging	Het
Zfp82	C	T	7: 29,755,963 (GRCm39)	R373H	probably damaging	Het
Zmiz2	A	G	11: 6,346,814 (GRCm39)	E141G	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
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
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
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'- ATGGCAAGATTCCTAGACACC -3'
(R):5'- CTGTTCAAATATCATTTCTGGGCAG -3'

Sequencing Primer
(F):5'- CCAGTGTCAAGATGGATGACTTCC -3'
(R):5'- ATCATTTCTGGGCAGTACATTTC -3'

Posted On

2022-10-06