Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01403:Pola2'

79697

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 #

IGL01403

Quality Score

Status

Chromosome

Chromosomal Location

5940543-5964206 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5959093 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 79 (H79R)

Ref Sequence

ENSEMBL: ENSMUSP00000128866 (fasta)

Gene Model

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

AlphaFold

P33611

Predicted Effect

probably benign
Transcript: ENSMUST00000025752
AA Change: H79R

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000025752
Gene: ENSMUSG00000024833
AA Change: H79R

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 benign
Transcript: ENSMUST00000165143
AA Change: H79R

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000128866
Gene: ENSMUSG00000024833
AA Change: H79R

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	C	2: 111,229,170		probably benign	Het
Abcb5	A	T	12: 118,872,867	L1103Q	probably damaging	Het
Adam12	T	A	7: 133,919,610	Q605L	probably benign	Het
Adk	A	G	14: 21,234,915	K102R	probably damaging	Het
Afdn	C	T	17: 13,903,870	P1761S	probably damaging	Het
Ascc1	A	G	10: 60,012,458		probably benign	Het
Aspdh	A	G	7: 44,466,559		probably null	Het
Bbx	T	C	16: 50,202,513	I753V	probably benign	Het
Ccdc33	T	C	9: 58,117,385	Y186C	probably damaging	Het
Ccdc78	T	A	17: 25,788,244		probably null	Het
Ckmt1	T	C	2: 121,362,966		probably benign	Het
Csf1r	A	G	18: 61,114,825	T322A	probably benign	Het
Dnah7b	T	C	1: 46,116,300		probably benign	Het
Dr1	A	G	5: 108,269,710	N41D	possibly damaging	Het
Ehmt1	G	A	2: 24,839,626	T633I	possibly damaging	Het
Fgf7	T	A	2: 126,035,940	Y76N	probably damaging	Het
Hmcn1	A	T	1: 150,593,097	W5038R	probably damaging	Het
Ighv14-1	A	G	12: 113,932,242	V21A	probably damaging	Het
Igkv5-37	T	A	6: 69,963,436	I75F	probably damaging	Het
Inhbc	T	A	10: 127,370,099	I100F	probably damaging	Het
Irs3	A	G	5: 137,645,319	F68L	probably damaging	Het
Itpr3	T	A	17: 27,118,595	C2460S	probably damaging	Het
Krt34	A	G	11: 100,038,290	C365R	possibly damaging	Het
Krt81	G	A	15: 101,463,388	H104Y	probably benign	Het
Ly6g	A	G	15: 75,158,648	N82S	probably damaging	Het
Mrpl58	A	T	11: 115,406,578	I72F	probably damaging	Het
Myo9a	G	A	9: 59,871,563	R1534H	probably damaging	Het
Npat	T	A	9: 53,555,129	F239L	probably benign	Het
Nsd2	A	G	5: 33,885,378		probably benign	Het
Nuggc	T	C	14: 65,623,186	V427A	probably benign	Het
Olfr476	A	G	7: 107,967,621	T75A	possibly damaging	Het
Olfr690	G	A	7: 105,329,398	R265C	probably benign	Het
Pde4a	A	T	9: 21,205,116	I467F	probably damaging	Het
Pkhd1l1	T	A	15: 44,483,833	C198*	probably null	Het
Pla2r1	A	G	2: 60,424,288	V1312A	probably damaging	Het
Pramef20	A	T	4: 144,377,133	M141K	probably benign	Het
Psen2	A	T	1: 180,234,983		probably benign	Het
Rnf213	A	G	11: 119,443,300	K3112E	probably damaging	Het
Slc6a4	G	T	11: 77,031,672	V630L	probably benign	Het
Smg1	A	T	7: 118,158,132		probably benign	Het
Tmc8	A	G	11: 117,791,074	T510A	possibly damaging	Het
Usp18	T	A	6: 121,268,668	H334Q	possibly damaging	Het
Vmn2r103	T	C	17: 19,792,967	Y117H	probably benign	Het
Vps13b	T	A	15: 35,709,479	D1857E	probably benign	Het

Other mutations in Pola2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01704:Pola2	APN	19	5942019	missense	probably damaging	1.00
IGL01807:Pola2	APN	19	5953159	splice site	probably benign
IGL02039:Pola2	APN	19	5948469	missense	probably damaging	1.00
IGL02639:Pola2	APN	19	5953774	missense	probably benign	0.01
PIT4403001:Pola2	UTSW	19	5959046	missense	possibly damaging	0.73
R0189:Pola2	UTSW	19	5942342	splice site	probably benign
R1467:Pola2	UTSW	19	5942065	nonsense	probably null
R1467:Pola2	UTSW	19	5942065	nonsense	probably null
R1521:Pola2	UTSW	19	5948406	missense	probably damaging	1.00
R1682:Pola2	UTSW	19	5953063	critical splice donor site	probably null
R1806:Pola2	UTSW	19	5943222	critical splice donor site	probably null
R1934:Pola2	UTSW	19	5953741	missense	probably damaging	1.00
R1938:Pola2	UTSW	19	5951180	missense	probably benign	0.01
R4833:Pola2	UTSW	19	5953864	missense	probably damaging	1.00
R5643:Pola2	UTSW	19	5961170	missense	probably benign	0.03
R5644:Pola2	UTSW	19	5961170	missense	probably benign	0.03
R6192:Pola2	UTSW	19	5953774	missense	possibly damaging	0.46
R7509:Pola2	UTSW	19	5961166	missense	probably benign	0.26
R8217:Pola2	UTSW	19	5963827	missense	possibly damaging	0.91
R8954:Pola2	UTSW	19	5948424	missense	probably damaging	0.98
R9225:Pola2	UTSW	19	5950464	missense	probably benign	0.04
R9336:Pola2	UTSW	19	5941001	missense	possibly damaging	0.92
R9783:Pola2	UTSW	19	5940876	missense	probably damaging	1.00
Z1177:Pola2	UTSW	19	5953828	missense	probably benign	0.01

Posted On

2013-11-05