Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02039:Pola2'

184634

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pola2

Ensembl Gene

ENSMUSG00000024833

Gene Name

polymerase (DNA directed), alpha 2

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02039

Quality Score

Status

Chromosome

Chromosomal Location

5990570-6014230 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5998497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 355 (I355N)

Ref Sequence

ENSEMBL: ENSMUSP00000128866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025752] [ENSMUST00000165143]

AlphaFold

P33611

Predicted Effect

probably damaging
Transcript: ENSMUST00000025752
AA Change: I355N

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

SMART Domains

Protein: ENSMUSP00000025752
Gene: ENSMUSG00000024833
AA Change: I355N

Domain	Start	End	E-Value	Type
Pfam:Pol_alpha_B_N	17	243	5.4e-17	PFAM
Pfam:DNA_pol_E_B	342	549	9.8e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000165143
AA Change: I355N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128866
Gene: ENSMUSG00000024833
AA Change: I355N

Domain	Start	End	E-Value	Type
Pfam:Pol_alpha_B_N	15	248	3.1e-59	PFAM
Pfam:DNA_pol_E_B	342	549	2e-49	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,247,193 (GRCm39)	Y2313*	probably null	Het
Arhgef12	A	G	9: 42,883,563 (GRCm39)	I1323T	probably benign	Het
C87436	A	G	6: 86,430,677 (GRCm39)	M366V	probably benign	Het
Cep290	T	C	10: 100,350,464 (GRCm39)		probably null	Het
Cpsf3	T	C	12: 21,351,457 (GRCm39)	M326T	probably damaging	Het
Cpxm2	A	G	7: 131,649,482 (GRCm39)	V64A	probably damaging	Het
Csnka2ip	G	A	16: 64,298,957 (GRCm39)	S25F	probably damaging	Het
Cyfip1	T	C	7: 55,524,769 (GRCm39)	F168L	possibly damaging	Het
Dhx8	T	C	11: 101,654,853 (GRCm39)		probably null	Het
Dnah2	T	A	11: 69,390,038 (GRCm39)	I736F	probably damaging	Het
Erf	T	C	7: 24,943,969 (GRCm39)	E454G	possibly damaging	Het
Flnc	T	C	6: 29,450,718 (GRCm39)	V1482A	probably benign	Het
Fmn1	T	C	2: 113,195,425 (GRCm39)	L375P	unknown	Het
Foxm1	T	C	6: 128,346,323 (GRCm39)	Y85H	probably damaging	Het
Frem3	A	G	8: 81,339,600 (GRCm39)	E631G	probably damaging	Het
Fsip1	T	C	2: 118,070,895 (GRCm39)	D265G	probably damaging	Het
Gprc5c	C	T	11: 114,755,312 (GRCm39)	Q330*	probably null	Het
Grin1	C	T	2: 25,195,354 (GRCm39)	V246M	probably damaging	Het
Ifitm3	C	A	7: 140,590,563 (GRCm39)		probably benign	Het
Igdcc3	G	A	9: 65,091,162 (GRCm39)	V648I	probably benign	Het
Ighv5-2	A	G	12: 113,542,214 (GRCm39)	I87T	probably benign	Het
Imp4	G	A	1: 34,482,849 (GRCm39)		probably null	Het
Ino80	T	C	2: 119,210,554 (GRCm39)	N1327D	probably damaging	Het
Kif5a	T	C	10: 127,069,736 (GRCm39)	I830V	possibly damaging	Het
Muc5b	A	G	7: 141,424,901 (GRCm39)	Y4696C	possibly damaging	Het
Nrl	T	C	14: 55,759,567 (GRCm39)	E120G	probably benign	Het
Nsmaf	T	A	4: 6,424,995 (GRCm39)		probably benign	Het
Nup35	T	C	2: 80,473,119 (GRCm39)	M64T	probably benign	Het
Nxpe2	T	A	9: 48,230,959 (GRCm39)	N470I	probably benign	Het
Oga	A	T	19: 45,762,142 (GRCm39)	V237E	probably damaging	Het
Or12d17	T	A	17: 37,777,340 (GRCm39)	I81N	possibly damaging	Het
Or9i1	C	T	19: 13,840,083 (GRCm39)	Q309*	probably null	Het
Os9	G	A	10: 126,932,160 (GRCm39)	P604S	possibly damaging	Het
Pitpnm1	A	G	19: 4,155,032 (GRCm39)	T287A	probably benign	Het
Pkd2l2	G	T	18: 34,568,421 (GRCm39)		probably null	Het
Pp2d1	T	A	17: 53,823,022 (GRCm39)	R15*	probably null	Het
Prpf40a	T	C	2: 53,034,815 (GRCm39)	D749G	probably damaging	Het
Rhoh	T	C	5: 66,049,981 (GRCm39)	S84P	probably damaging	Het
Slc12a7	T	C	13: 73,957,213 (GRCm39)		probably null	Het
Slc37a2	A	G	9: 37,144,980 (GRCm39)	I454T	probably damaging	Het
Smarca2	A	G	19: 26,693,537 (GRCm39)	D28G	probably damaging	Het
Socs4	T	C	14: 47,527,650 (GRCm39)	I195T	probably benign	Het
Svep1	A	G	4: 58,123,980 (GRCm39)		probably null	Het
Thbd	T	C	2: 148,248,462 (GRCm39)	T469A	probably benign	Het
Thoc5	T	C	11: 4,872,027 (GRCm39)		probably null	Het
Vmn1r173	G	T	7: 23,402,321 (GRCm39)	M185I	probably benign	Het
Vmn1r59	T	C	7: 5,457,380 (GRCm39)	S127G	probably benign	Het
Vmn2r6	T	C	3: 64,463,610 (GRCm39)	E408G	probably damaging	Het
Yars1	A	T	4: 129,109,052 (GRCm39)	I428F	probably damaging	Het
Zglp1	T	C	9: 20,978,335 (GRCm39)	E14G	possibly damaging	Het

Other mutations in Pola2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01403:Pola2	APN	19	6,009,121 (GRCm39)	missense	probably benign	0.19
IGL01704:Pola2	APN	19	5,992,047 (GRCm39)	missense	probably damaging	1.00
IGL01807:Pola2	APN	19	6,003,187 (GRCm39)	splice site	probably benign
IGL02639:Pola2	APN	19	6,003,802 (GRCm39)	missense	probably benign	0.01
PIT4403001:Pola2	UTSW	19	6,009,074 (GRCm39)	missense	possibly damaging	0.73
R0189:Pola2	UTSW	19	5,992,370 (GRCm39)	splice site	probably benign
R1467:Pola2	UTSW	19	5,992,093 (GRCm39)	nonsense	probably null
R1467:Pola2	UTSW	19	5,992,093 (GRCm39)	nonsense	probably null
R1521:Pola2	UTSW	19	5,998,434 (GRCm39)	missense	probably damaging	1.00
R1682:Pola2	UTSW	19	6,003,091 (GRCm39)	critical splice donor site	probably null
R1806:Pola2	UTSW	19	5,993,250 (GRCm39)	critical splice donor site	probably null
R1934:Pola2	UTSW	19	6,003,769 (GRCm39)	missense	probably damaging	1.00
R1938:Pola2	UTSW	19	6,001,208 (GRCm39)	missense	probably benign	0.01
R4833:Pola2	UTSW	19	6,003,892 (GRCm39)	missense	probably damaging	1.00
R5643:Pola2	UTSW	19	6,011,198 (GRCm39)	missense	probably benign	0.03
R5644:Pola2	UTSW	19	6,011,198 (GRCm39)	missense	probably benign	0.03
R6192:Pola2	UTSW	19	6,003,802 (GRCm39)	missense	possibly damaging	0.46
R7509:Pola2	UTSW	19	6,011,194 (GRCm39)	missense	probably benign	0.26
R8217:Pola2	UTSW	19	6,013,855 (GRCm39)	missense	possibly damaging	0.91
R8954:Pola2	UTSW	19	5,998,452 (GRCm39)	missense	probably damaging	0.98
R9225:Pola2	UTSW	19	6,000,492 (GRCm39)	missense	probably benign	0.04
R9336:Pola2	UTSW	19	5,991,029 (GRCm39)	missense	possibly damaging	0.92
R9783:Pola2	UTSW	19	5,990,904 (GRCm39)	missense	probably damaging	1.00
Z1177:Pola2	UTSW	19	6,003,856 (GRCm39)	missense	probably benign	0.01

Posted On

2014-05-07