Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02528:Pcna-ps2'

297182

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcna-ps2

Ensembl Gene

ENSMUSG00000067608

Gene Name

proliferating cell nuclear antigen pseudogene 2

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

IGL02528

Quality Score

Status

Chromosome

Chromosomal Location

9260744-9261524 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9261331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 197 (I197L)

Ref Sequence

ENSEMBL: ENSMUSP00000137596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088040]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000088040
AA Change: I197L

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000137596
Gene: ENSMUSG00000067608
AA Change: I197L

Domain	Start	End	E-Value	Type
Pfam:PCNA_N	1	125	1.4e-62	PFAM
Pfam:Rad1	1	236	1.2e-11	PFAM
Pfam:Rad9	12	245	1.7e-10	PFAM
Pfam:PCNA_C	127	254	4.7e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142025

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	A	6: 65,930,357 (GRCm39)		probably benign	Het
4933416I08Rik	T	A	X: 52,580,792 (GRCm39)	N54I	probably damaging	Het
Abcc2	A	G	19: 43,786,943 (GRCm39)	D188G	probably benign	Het
Akap11	T	C	14: 78,748,307 (GRCm39)	Y1360C	probably damaging	Het
Bltp2	T	C	11: 78,162,802 (GRCm39)	V888A	possibly damaging	Het
C920021L13Rik	A	G	3: 95,794,628 (GRCm39)		probably benign	Het
Ccdc89	A	T	7: 90,076,819 (GRCm39)	Q343L	probably damaging	Het
Cep350	A	T	1: 155,770,361 (GRCm39)	M1843K	probably damaging	Het
Ces2b	T	C	8: 105,561,601 (GRCm39)	S232P	probably damaging	Het
Eprs1	G	T	1: 185,145,686 (GRCm39)	R1165L	probably damaging	Het
Ercc5	A	G	1: 44,206,962 (GRCm39)	E625G	probably benign	Het
Evi5l	T	C	8: 4,243,172 (GRCm39)	V352A	probably benign	Het
Ggt5	T	C	10: 75,446,254 (GRCm39)		probably benign	Het
Gm11564	T	A	11: 99,706,293 (GRCm39)	R46*	probably null	Het
Herc2	A	G	7: 55,758,641 (GRCm39)		probably benign	Het
Kash5	T	C	7: 44,833,170 (GRCm39)		probably benign	Het
Kcnh8	A	G	17: 53,110,556 (GRCm39)	S256G	probably damaging	Het
Man2a2	G	A	7: 80,009,388 (GRCm39)	A822V	probably damaging	Het
Mast4	T	C	13: 102,990,331 (GRCm39)	*255W	probably null	Het
Muc5b	A	G	7: 141,417,754 (GRCm39)	M3567V	probably benign	Het
Noxa1	A	G	2: 24,980,645 (GRCm39)		probably benign	Het
Nsd2	T	C	5: 34,036,395 (GRCm39)		probably benign	Het
Pde8a	A	G	7: 80,942,937 (GRCm39)		probably benign	Het
Polr1a	C	A	6: 71,941,701 (GRCm39)	Q1070K	probably benign	Het
Pum2	G	T	12: 8,778,696 (GRCm39)	G449*	probably null	Het
Rab29	T	C	1: 131,797,749 (GRCm39)		probably benign	Het
Rpap1	T	A	2: 119,605,431 (GRCm39)		probably null	Het
Scn7a	A	G	2: 66,530,519 (GRCm39)	Y609H	probably damaging	Het
Slit3	T	C	11: 35,469,801 (GRCm39)	S268P	probably benign	Het
Stat2	C	T	10: 128,126,534 (GRCm39)	T753I	probably benign	Het
Susd6	T	C	12: 80,916,945 (GRCm39)	V160A	probably damaging	Het
Tex52	A	G	6: 128,356,460 (GRCm39)	E51G	possibly damaging	Het
Tmem102	T	A	11: 69,694,532 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,720,582 (GRCm39)		probably benign	Het
Ubtd2	T	A	11: 32,449,249 (GRCm39)	L32*	probably null	Het
Usp38	T	C	8: 81,719,864 (GRCm39)	Y455C	probably damaging	Het
Wwp2	T	C	8: 108,281,099 (GRCm39)	F671L	probably benign	Het
Xlr3a	T	C	X: 72,138,573 (GRCm39)	N29D	possibly damaging	Het
Zan	T	C	5: 137,463,403 (GRCm39)	E592G	possibly damaging	Het
Zmat4	T	A	8: 24,505,212 (GRCm39)	S151T	probably damaging	Het
Znfx1	T	C	2: 166,892,324 (GRCm39)	T631A	probably benign	Het

Other mutations in Pcna-ps2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00568:Pcna-ps2	APN	19	9,261,290 (GRCm39)	nonsense	probably null
IGL02675:Pcna-ps2	APN	19	9,261,323 (GRCm39)	missense	probably benign	0.01
R0900:Pcna-ps2	UTSW	19	9,261,487 (GRCm39)	missense	probably damaging	1.00
R1982:Pcna-ps2	UTSW	19	9,261,047 (GRCm39)	missense	possibly damaging	0.61
R4704:Pcna-ps2	UTSW	19	9,260,786 (GRCm39)	missense	possibly damaging	0.87
R5179:Pcna-ps2	UTSW	19	9,260,891 (GRCm39)	missense	probably damaging	1.00
R5877:Pcna-ps2	UTSW	19	9,261,463 (GRCm39)	missense	probably benign	0.34
R6129:Pcna-ps2	UTSW	19	9,261,379 (GRCm39)	missense	possibly damaging	0.63
R6817:Pcna-ps2	UTSW	19	9,260,861 (GRCm39)	missense	probably damaging	1.00
R7710:Pcna-ps2	UTSW	19	9,261,489 (GRCm39)	nonsense	probably null
R8887:Pcna-ps2	UTSW	19	9,261,488 (GRCm39)	missense	probably benign	0.05
Z1176:Pcna-ps2	UTSW	19	9,261,476 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16