Mutagenetix > Incidental Mutation

Incidental Mutation 'R1119:Pcnp'

97800

Institutional Source

Beutler Lab

Gene Symbol

Pcnp

Ensembl Gene

ENSMUSG00000071533

Gene Name

PEST proteolytic signal containing nuclear protein

Synonyms

1110018D06Rik

MMRRC Submission

039192-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1119 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55835870-55851590 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55844754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 49 (S49P)

Ref Sequence

ENSEMBL: ENSMUSP00000093720 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096021] [ENSMUST00000114444] [ENSMUST00000119981] [ENSMUST00000122253] [ENSMUST00000125040] [ENSMUST00000130818]

AlphaFold

Q6P8I4

Predicted Effect

probably damaging
Transcript: ENSMUST00000096021
AA Change: S49P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093720
Gene: ENSMUSG00000071533
AA Change: S49P

Domain	Start	End	E-Value	Type
Pfam:PCNP	33	182	4.4e-71	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114444
AA Change: S38P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110087
Gene: ENSMUSG00000071533
AA Change: S38P

Domain	Start	End	E-Value	Type
Pfam:PCNP	22	171	4.8e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119981

SMART Domains

Protein: ENSMUSP00000112565
Gene: ENSMUSG00000071533

Domain	Start	End	E-Value	Type
Pfam:PCNP	1	100	6.3e-59	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000122253
AA Change: S38P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113605
Gene: ENSMUSG00000071533
AA Change: S38P

Domain	Start	End	E-Value	Type
Pfam:PCNP	22	139	3.1e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125040

Predicted Effect

probably benign
Transcript: ENSMUST00000130818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140227

Meta Mutation Damage Score

0.1169

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.4%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	A	C	7: 82,189,525 (GRCm39)	E583A	probably damaging	Het
Aoah	T	A	13: 21,099,108 (GRCm39)		probably benign	Het
Atf7ip2	A	G	16: 10,058,476 (GRCm39)	K305R	possibly damaging	Het
Bltp1	T	G	3: 37,041,194 (GRCm39)	V2524G	probably damaging	Het
Cd200r2	A	G	16: 44,729,969 (GRCm39)	N171S	probably damaging	Het
Cfap57	G	A	4: 118,463,873 (GRCm39)	Q327*	probably null	Het
Ckap2l	A	T	2: 129,114,492 (GRCm39)		probably benign	Het
Cul2	A	G	18: 3,419,335 (GRCm39)		probably benign	Het
Ddx60	G	A	8: 62,395,578 (GRCm39)	V172M	probably damaging	Het
Drp2	T	C	X: 133,342,071 (GRCm39)	L545P	probably damaging	Het
Ezh1	A	G	11: 101,101,361 (GRCm39)		probably benign	Het
Gipc2	A	G	3: 151,799,833 (GRCm39)	F299S	probably damaging	Het
Gsk3b	T	C	16: 38,028,346 (GRCm39)		probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hikeshi	A	G	7: 89,584,938 (GRCm39)	S89P	probably benign	Het
Hmcn1	C	T	1: 150,494,679 (GRCm39)	A4137T	possibly damaging	Het
Itprid1	T	C	6: 55,866,155 (GRCm39)	F183L	probably damaging	Het
Larp1b	C	A	3: 40,987,963 (GRCm39)	R62S	possibly damaging	Het
Lgr5	A	T	10: 115,296,716 (GRCm39)		probably null	Het
Lpin1	C	A	12: 16,613,722 (GRCm39)	D449Y	probably damaging	Het
Macrod2	A	T	2: 140,242,826 (GRCm39)	I31L	probably benign	Het
Meig1	T	C	2: 3,410,311 (GRCm39)	D63G	probably damaging	Het
Ndufa9	A	T	6: 126,799,031 (GRCm39)	L362Q	probably damaging	Het
Nlrp9c	A	T	7: 26,083,862 (GRCm39)	D572E	probably benign	Het
Nxpe5	G	A	5: 138,237,658 (GRCm39)	D61N	probably benign	Het
Ogdh	T	A	11: 6,290,544 (GRCm39)	H376Q	probably damaging	Het
P4ha3	T	C	7: 99,962,535 (GRCm39)	I431T	probably damaging	Het
Pcdhb14	G	A	18: 37,581,640 (GRCm39)	V249M	probably damaging	Het
Pik3r6	C	T	11: 68,436,698 (GRCm39)	T654I	probably benign	Het
Rptn	A	G	3: 93,303,552 (GRCm39)	Y295C	possibly damaging	Het
Sec16b	A	G	1: 157,392,404 (GRCm39)	D924G	possibly damaging	Het
Setd1b	C	A	5: 123,285,779 (GRCm39)	T275K	unknown	Het
Sgcb	T	A	5: 73,801,757 (GRCm39)	K36I	probably damaging	Het
Smg7	A	T	1: 152,742,326 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Stab2	T	C	10: 86,695,619 (GRCm39)	D599G	possibly damaging	Het
Stk36	A	G	1: 74,671,925 (GRCm39)	E875G	probably benign	Het
Tagln3	C	A	16: 45,544,635 (GRCm39)	R12L	probably damaging	Het
Tax1bp1	C	A	6: 52,718,933 (GRCm39)		probably benign	Het
Thnsl1	A	G	2: 21,217,857 (GRCm39)	N16S	probably damaging	Het
Ticrr	C	T	7: 79,343,701 (GRCm39)	P1189S	probably benign	Het
Tnxb	G	A	17: 34,904,017 (GRCm39)	V1053M	probably damaging	Het
Tpp2	T	C	1: 44,031,556 (GRCm39)		probably null	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Vmn2r60	A	T	7: 41,844,365 (GRCm39)	Q576L	possibly damaging	Het
Zfp62	G	T	11: 49,107,517 (GRCm39)	R536L	probably damaging	Het
Zfp958	A	T	8: 4,676,169 (GRCm39)	N46Y	possibly damaging	Het

Other mutations in Pcnp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0196:Pcnp	UTSW	16	55,844,896 (GRCm39)	utr 3 prime	probably benign
R1118:Pcnp	UTSW	16	55,844,754 (GRCm39)	missense	probably damaging	1.00
R1459:Pcnp	UTSW	16	55,844,703 (GRCm39)	missense	possibly damaging	0.84
R1878:Pcnp	UTSW	16	55,838,850 (GRCm39)	missense	probably damaging	1.00
R4774:Pcnp	UTSW	16	55,837,522 (GRCm39)	utr 3 prime	probably benign
R9696:Pcnp	UTSW	16	55,844,867 (GRCm39)	utr 3 prime	probably benign

Predicted Primers

PCR Primer
(F):5'- CTCACACTTGCTCCGAGTCTAATGG -3'
(R):5'- TGTACTGCCACACAATCTCAGTTCC -3'

Sequencing Primer
(F):5'- CTCCGAGTCTAATGGAGATGGC -3'
(R):5'- TGCTGTACACTCTAGCAAGC -3'

Posted On

2014-01-05