Mutagenetix > Incidental Mutation

Incidental Mutation 'R3857:Pcna'

276205

Institutional Source

Beutler Lab

Gene Symbol

Pcna

Ensembl Gene

ENSMUSG00000027342

Gene Name

proliferating cell nuclear antigen

Synonyms

MMRRC Submission

040785-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3857 (G1)

Quality Score

128

Status

Not validated

Chromosome

Chromosomal Location

132091206-132095100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132091541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 261 (S261T)

Ref Sequence

ENSEMBL: ENSMUSP00000028817 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028816] [ENSMUST00000028817] [ENSMUST00000110163] [ENSMUST00000110164] [ENSMUST00000180286]

AlphaFold

P17918

Predicted Effect

probably benign
Transcript: ENSMUST00000028816

SMART Domains

Protein: ENSMUSP00000028816
Gene: ENSMUSG00000027341

Domain	Start	End	E-Value	Type
Pfam:DUF872	14	118	5.5e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000028817
AA Change: S261T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000028817
Gene: ENSMUSG00000027342
AA Change: S261T

Domain	Start	End	E-Value	Type
Pfam:PCNA_N	1	125	1.4e-61	PFAM
Pfam:Rad1	1	236	2e-10	PFAM
Pfam:Rad9	12	245	1.3e-9	PFAM
Pfam:PCNA_C	127	254	8.2e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110163

SMART Domains

Protein: ENSMUSP00000105792
Gene: ENSMUSG00000027341

Domain	Start	End	E-Value	Type
Pfam:DUF872	14	118	5.5e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110164

SMART Domains

Protein: ENSMUSP00000105793
Gene: ENSMUSG00000027341

Domain	Start	End	E-Value	Type
Pfam:DUF872	14	118	5.5e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124336

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135181

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136676

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149627

Predicted Effect

probably benign
Transcript: ENSMUST00000180286

SMART Domains

Protein: ENSMUSP00000136826
Gene: ENSMUSG00000027341

Domain	Start	End	E-Value	Type
Pfam:DUF872	3	118	1.7e-22	PFAM

Coding Region Coverage

1x: 99.5%
3x: 98.6%
10x: 96.7%
20x: 92.4%

Validation Efficiency

98% (41/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation due to defects in DNA replication. Mice homozygous for a knock-in allele show partial embryonic lethality during organogenesis, absent germ cells, infertility, and altered somatic hypermutation frequency. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted, knock-out(1) Targeted, other(4) Gene trapped(2)

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bdkrb2	T	C	12: 105,558,698 (GRCm39)	V313A	probably benign	Het
Ccng1	A	G	11: 40,644,660 (GRCm39)	L79P	probably damaging	Het
Celf1	A	G	2: 90,843,086 (GRCm39)	E411G	probably damaging	Het
Cps1	A	G	1: 67,207,437 (GRCm39)	Y582C	probably damaging	Het
Dnah8	A	G	17: 30,882,396 (GRCm39)	D656G	probably damaging	Het
Eif1ad17	T	A	12: 87,979,016 (GRCm39)	D133E	unknown	Het
Erc2	A	G	14: 28,197,599 (GRCm39)		probably benign	Het
Ercc8	A	G	13: 108,330,648 (GRCm39)	E395G	possibly damaging	Het
Ezhip	A	G	X: 5,994,710 (GRCm39)	S102P	possibly damaging	Het
F13a1	A	G	13: 37,209,668 (GRCm39)	L99P	probably benign	Het
Fzd3	A	T	14: 65,477,288 (GRCm39)	C89S	possibly damaging	Het
Gse1	T	A	8: 121,297,872 (GRCm39)		probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hs3st1	G	A	5: 39,772,256 (GRCm39)	T129I	probably damaging	Het
Irx1	A	T	13: 72,111,577 (GRCm39)	Y11N	possibly damaging	Het
Kdm3b	T	A	18: 34,966,440 (GRCm39)	I1658N	probably benign	Het
Mtmr4	G	A	11: 87,488,088 (GRCm39)	V24M	probably damaging	Het
Nfatc1	T	C	18: 80,708,490 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,971,795 (GRCm39)		probably benign	Het
Pigr	T	C	1: 130,774,998 (GRCm39)	V475A	probably benign	Het
Pitpnc1	T	C	11: 107,211,631 (GRCm39)		probably null	Het
Psph	A	G	5: 129,848,540 (GRCm39)	M47T	probably damaging	Het
Pth2r	A	T	1: 65,361,206 (GRCm39)	I52F	probably damaging	Het
Rtn4rl2	A	G	2: 84,710,730 (GRCm39)		probably null	Het
Senp6	A	G	9: 79,999,603 (GRCm39)	T7A	possibly damaging	Het
Slc4a1	A	T	11: 102,247,947 (GRCm39)	V349E	probably benign	Het
Spice1	T	C	16: 44,175,806 (GRCm39)	S2P	probably damaging	Het
Spty2d1	G	A	7: 46,648,044 (GRCm39)	T295I	probably benign	Het
Thsd7a	C	T	6: 12,555,225 (GRCm39)	G220S	probably benign	Het
Togaram1	A	G	12: 65,027,633 (GRCm39)	Q874R	possibly damaging	Het
Ttn	T	A	2: 76,739,319 (GRCm39)	D3740V	probably benign	Het
Unc13c	G	T	9: 73,606,390 (GRCm39)	Y1323*	probably null	Het
Vmn1r19	A	T	6: 57,382,098 (GRCm39)	Y217F	possibly damaging	Het
Zfp101	G	T	17: 33,601,405 (GRCm39)	S79*	probably null	Het
Zfp512	G	T	5: 31,630,184 (GRCm39)	R222L	probably damaging	Het
Zfyve16	A	T	13: 92,631,479 (GRCm39)	I1372N	probably damaging	Het

Other mutations in Pcna

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Pcna	APN	2	132,093,852 (GRCm39)	missense	probably benign	0.12
IGL00839:Pcna	APN	2	132,093,340 (GRCm39)	missense	probably benign	0.00
IGL01463:Pcna	APN	2	132,093,349 (GRCm39)	missense	probably damaging	1.00
IGL02437:Pcna	APN	2	132,093,155 (GRCm39)	unclassified	probably benign
IGL03083:Pcna	APN	2	132,093,673 (GRCm39)	missense	probably benign	0.10
IGL03084:Pcna	APN	2	132,093,673 (GRCm39)	missense	probably benign	0.10
IGL03094:Pcna	APN	2	132,093,673 (GRCm39)	missense	probably benign	0.10
IGL03124:Pcna	APN	2	132,093,673 (GRCm39)	missense	probably benign	0.10
IGL03046:Pcna	UTSW	2	132,093,673 (GRCm39)	missense	probably benign	0.10
NA:Pcna	UTSW	2	132,091,804 (GRCm39)	missense	probably benign	0.01
R0722:Pcna	UTSW	2	132,093,155 (GRCm39)	unclassified	probably benign
R1928:Pcna	UTSW	2	132,093,817 (GRCm39)	unclassified	probably benign
R7211:Pcna	UTSW	2	132,091,792 (GRCm39)	missense	probably damaging	1.00
R7296:Pcna	UTSW	2	132,094,797 (GRCm39)	missense	probably benign	0.10
R7917:Pcna	UTSW	2	132,094,929 (GRCm39)	missense	probably benign	0.03
R8318:Pcna	UTSW	2	132,093,348 (GRCm39)	missense	probably damaging	0.98
R8411:Pcna	UTSW	2	132,093,850 (GRCm39)	missense	probably benign
R8793:Pcna	UTSW	2	132,093,193 (GRCm39)	missense	probably benign	0.06
R8965:Pcna	UTSW	2	132,094,769 (GRCm39)	missense	possibly damaging	0.94
R9780:Pcna	UTSW	2	132,094,794 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- AAAGGCGGCACTGCTCTATG -3'
(R):5'- ACTCAGTATGTCTGCAGATGTG -3'

Sequencing Primer
(F):5'- GCACTGCTCTATGACTTTTCAAATTG -3'
(R):5'- TGCCCCTTGGTAAGATGATAAG -3'

Posted On

2015-04-06