Mutagenetix > Incidental Mutation

Incidental Mutation 'R1443:Pcsk7'

158655

Institutional Source

Beutler Lab

Gene Symbol

Pcsk7

Ensembl Gene

ENSMUSG00000035382

Gene Name

proprotein convertase subtilisin/kexin type 7

Synonyms

SPC7

MMRRC Submission

039498-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1443 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45817795-45841024 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45837284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 536 (P536Q)

Ref Sequence

ENSEMBL: ENSMUSP00000150393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034590] [ENSMUST00000039059] [ENSMUST00000215189] [ENSMUST00000216672]

AlphaFold

Q61139

Predicted Effect

probably benign
Transcript: ENSMUST00000034590

SMART Domains

Protein: ENSMUSP00000034590
Gene: ENSMUSG00000032085

Domain	Start	End	E-Value	Type
CH	26	133	1.53e-20	SMART
Pfam:Calponin	175	199	5.5e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000039059
AA Change: P536Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047508
Gene: ENSMUSG00000035382
AA Change: P536Q

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:S8_pro-domain	52	140	9.7e-21	PFAM
Pfam:Peptidase_S8	177	464	4.7e-43	PFAM
Pfam:P_proprotein	524	611	1.3e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213884

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214425

Predicted Effect

probably benign
Transcript: ENSMUST00000215189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216035

Predicted Effect

probably damaging
Transcript: ENSMUST00000216672
AA Change: P536Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216504

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.2%
20x: 85.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It can process proalbumin and is thought to be responsible for the activation of HIV envelope glycoproteins gp160 and gp140. This gene has been implicated in the transcriptional regulation of housekeeping genes and plays a role in the regulation of iron metabolism. A t(11;14)(q23;q32) chromosome translocation associated with B-cell lymphoma occurs between this gene and its inverted counterpart. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal response to LPS. [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
Actr8	A	G	14: 29,706,056 (GRCm39)	M99V	possibly damaging	Het
Adamtsl2	T	A	2: 26,993,078 (GRCm39)	C703S	possibly damaging	Het
Afap1	G	T	5: 36,126,005 (GRCm39)	K333N	probably damaging	Het
Aldh3a2	G	A	11: 61,155,133 (GRCm39)	S137L	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aoc1	A	T	6: 48,882,379 (GRCm39)	K107M	possibly damaging	Het
Aoc1l1	A	T	6: 48,952,849 (GRCm39)	Y258F	probably damaging	Het
Bltp2	T	A	11: 78,153,624 (GRCm39)	S56R	probably damaging	Het
Bmp8a	G	T	4: 123,210,758 (GRCm39)	S252R	possibly damaging	Het
C7	T	C	15: 5,088,901 (GRCm39)	I13M	probably benign	Het
Cblb	T	A	16: 51,959,974 (GRCm39)	D322E	possibly damaging	Het
Cfap54	G	A	10: 92,768,583 (GRCm39)	T180I	probably damaging	Het
Clrn2	C	T	5: 45,617,453 (GRCm39)	A108V	probably damaging	Het
Cspg4	T	A	9: 56,793,796 (GRCm39)	D510E	probably damaging	Het
Cyp2c40	A	T	19: 39,766,415 (GRCm39)	N393K	possibly damaging	Het
Dcaf5	T	C	12: 80,410,843 (GRCm39)	Y294C	probably damaging	Het
Dclk3	T	A	9: 111,298,088 (GRCm39)	M544K	probably benign	Het
Ell3	A	T	2: 121,269,946 (GRCm39)	F388I	probably damaging	Het
Fam78b	A	G	1: 166,906,329 (GRCm39)	I163V	probably damaging	Het
Gnptab	T	C	10: 88,269,943 (GRCm39)	L882P	probably damaging	Het
Herc2	A	T	7: 55,854,481 (GRCm39)	D3802V	possibly damaging	Het
Hs3st5	A	G	10: 36,709,410 (GRCm39)	E315G	probably benign	Het
Idh3b	A	T	2: 130,125,974 (GRCm39)		probably null	Het
Lama4	G	A	10: 38,949,639 (GRCm39)	E911K	probably damaging	Het
Macf1	A	G	4: 123,404,800 (GRCm39)	I436T	probably damaging	Het
Mgam	C	A	6: 40,736,714 (GRCm39)	S871*	probably null	Het
Mtmr7	A	G	8: 41,013,923 (GRCm39)	S212P	probably damaging	Het
Mylk2	A	G	2: 152,761,336 (GRCm39)	T480A	probably damaging	Het
Myo3a	A	T	2: 22,287,437 (GRCm39)	N191I	probably damaging	Het
Nanog	C	T	6: 122,688,734 (GRCm39)	S105F	probably damaging	Het
Nanos2	A	G	7: 18,721,564 (GRCm39)	Y12C	probably damaging	Het
Nsg1	C	T	5: 38,312,987 (GRCm39)	V71I	probably benign	Het
Or10g3	A	T	14: 52,610,408 (GRCm39)	I34N	probably damaging	Het
Or13a1	T	C	6: 116,471,386 (GRCm39)	L272S	probably benign	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or51a42	A	T	7: 103,707,930 (GRCm39)	I293N	probably damaging	Het
Or5b105	G	T	19: 13,080,568 (GRCm39)	Y33*	probably null	Het
Pcdhb17	A	G	18: 37,619,701 (GRCm39)	Q497R	probably benign	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Phyhip	A	G	14: 70,704,731 (GRCm39)	K317E	probably damaging	Het
Pkhd1	C	T	1: 20,604,782 (GRCm39)	G1178R	probably damaging	Het
Ppp1r9a	G	A	6: 5,057,557 (GRCm39)	G544D	probably damaging	Het
Ptpn3	T	C	4: 57,225,775 (GRCm39)	D480G	probably benign	Het
Ptprn2	A	T	12: 117,217,235 (GRCm39)	K918N	probably damaging	Het
Rab42	T	C	4: 132,029,658 (GRCm39)	D188G	probably benign	Het
Rasgrf2	C	A	13: 92,131,795 (GRCm39)	D20Y	probably damaging	Het
Ryr2	G	A	13: 11,794,152 (GRCm39)	T942I	probably benign	Het
Sbpl	T	C	17: 24,172,328 (GRCm39)	K197R	unknown	Het
Slc44a1	T	A	4: 53,561,069 (GRCm39)	V595E	probably damaging	Het
Slc6a19	A	G	13: 73,832,463 (GRCm39)	M410T	probably damaging	Het
Sntb1	A	T	15: 55,511,351 (GRCm39)	L411H	probably damaging	Het
Synj2	A	G	17: 6,073,940 (GRCm39)	K245E	probably damaging	Het
Tasor2	T	C	13: 3,625,543 (GRCm39)	K1469R	probably benign	Het
Tmem131	G	A	1: 36,864,559 (GRCm39)	T558I	probably damaging	Het
Tnrc18	A	T	5: 142,757,288 (GRCm39)	S1078T	unknown	Het
Trmu	T	A	15: 85,781,302 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,721,430 (GRCm39)		probably benign	Het
Tyw3	T	C	3: 154,293,160 (GRCm39)	T172A	probably benign	Het
Vldlr	T	C	19: 27,217,121 (GRCm39)	I348T	possibly damaging	Het
Zfp114	A	G	7: 23,877,194 (GRCm39)	D12G	probably damaging	Het

Other mutations in Pcsk7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Pcsk7	APN	9	45,838,958 (GRCm39)	missense	probably benign
IGL01081:Pcsk7	APN	9	45,840,005 (GRCm39)	missense	probably benign
IGL02634:Pcsk7	APN	9	45,830,560 (GRCm39)	missense	possibly damaging	0.87
IGL02999:Pcsk7	APN	9	45,838,897 (GRCm39)	missense	possibly damaging	0.68
IGL03115:Pcsk7	APN	9	45,825,670 (GRCm39)	missense	probably damaging	1.00
IGL03149:Pcsk7	APN	9	45,820,778 (GRCm39)	missense	probably benign	0.37
R0243:Pcsk7	UTSW	9	45,827,357 (GRCm39)	missense	probably damaging	1.00
R0324:Pcsk7	UTSW	9	45,824,309 (GRCm39)	missense	possibly damaging	0.87
R0947:Pcsk7	UTSW	9	45,822,470 (GRCm39)	missense	probably damaging	1.00
R1545:Pcsk7	UTSW	9	45,825,646 (GRCm39)	missense	probably damaging	1.00
R2182:Pcsk7	UTSW	9	45,839,917 (GRCm39)	missense	probably benign
R2939:Pcsk7	UTSW	9	45,827,322 (GRCm39)	missense	probably damaging	1.00
R3739:Pcsk7	UTSW	9	45,838,057 (GRCm39)	missense	possibly damaging	0.72
R4039:Pcsk7	UTSW	9	45,839,305 (GRCm39)	splice site	probably null
R4348:Pcsk7	UTSW	9	45,830,646 (GRCm39)	missense	probably damaging	1.00
R4974:Pcsk7	UTSW	9	45,830,160 (GRCm39)	missense	probably damaging	1.00
R5817:Pcsk7	UTSW	9	45,837,331 (GRCm39)	missense	probably benign	0.01
R6214:Pcsk7	UTSW	9	45,821,674 (GRCm39)	missense	possibly damaging	0.47
R6215:Pcsk7	UTSW	9	45,821,674 (GRCm39)	missense	possibly damaging	0.47
R6408:Pcsk7	UTSW	9	45,820,994 (GRCm39)	missense	probably benign	0.18
R7338:Pcsk7	UTSW	9	45,837,287 (GRCm39)	missense	probably benign	0.03
R7355:Pcsk7	UTSW	9	45,820,672 (GRCm39)	missense	probably benign	0.03
R7475:Pcsk7	UTSW	9	45,838,923 (GRCm39)	missense	probably damaging	1.00
R7540:Pcsk7	UTSW	9	45,838,971 (GRCm39)	splice site	probably null
R8305:Pcsk7	UTSW	9	45,821,707 (GRCm39)	missense	probably damaging	1.00
R8834:Pcsk7	UTSW	9	45,830,589 (GRCm39)	missense	possibly damaging	0.70
R8973:Pcsk7	UTSW	9	45,838,940 (GRCm39)	missense	probably benign	0.22
R9541:Pcsk7	UTSW	9	45,820,768 (GRCm39)	missense	probably benign	0.00
R9571:Pcsk7	UTSW	9	45,820,907 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- GTGCCTCAACTCATCTGATATGCCC -3'
(R):5'- TGGCTTCTAGCTGCTAAAGACAACC -3'

Sequencing Primer
(F):5'- tgcacttacttctctttgtattctc -3'
(R):5'- CCAGTGGAAGGCTTCAGTATC -3'

Posted On

2014-03-14