Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02576:Prim2'

299204

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prim2

Ensembl Gene

ENSMUSG00000026134

Gene Name

DNA primase, p58 subunit

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

IGL02576

Quality Score

Status

Chromosome

Chromosomal Location

33492891-33708876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33523798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 371 (I371N)

Ref Sequence

ENSEMBL: ENSMUSP00000027312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027312]

AlphaFold

P33610

Predicted Effect

probably damaging
Transcript: ENSMUST00000027312
AA Change: I371N

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

SMART Domains

Protein: ENSMUSP00000027312
Gene: ENSMUSG00000026134
AA Change: I371N

Domain	Start	End	E-Value	Type
Pfam:DNA_primase_lrg	182	448	6.2e-99	PFAM
low complexity region	482	503	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185489

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189552

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This heterodimer functions as a DNA-directed RNA polymerase to synthesize small RNA primers that are used to create Okazaki fragments on the lagging strand of the DNA. Alternative splicing of this gene results in multiple transcript variants. This gene has a related pseudogene, which is also present on chromosome 6. [provided by RefSeq, Apr 2014]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,032,678 (GRCm39)	I232M	probably benign	Het
Ace	G	A	11: 105,864,937 (GRCm39)	V537M	probably damaging	Het
Alg1	A	G	16: 5,062,393 (GRCm39)	E425G	possibly damaging	Het
Cacng3	G	A	7: 122,271,133 (GRCm39)	S46N	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cfap65	A	G	1: 74,942,617 (GRCm39)	S1646P	probably damaging	Het
Cimap2	T	C	4: 106,448,825 (GRCm39)	D411G	possibly damaging	Het
Col20a1	C	T	2: 180,655,198 (GRCm39)	Q1152*	probably null	Het
D130043K22Rik	A	C	13: 25,040,853 (GRCm39)	T92P	possibly damaging	Het
Drc3	T	C	11: 60,261,377 (GRCm39)	M176T	probably benign	Het
Esyt3	T	C	9: 99,197,278 (GRCm39)	R851G	probably benign	Het
Fbxo43	A	G	15: 36,152,321 (GRCm39)	V496A	probably benign	Het
Fut4	T	A	9: 14,662,701 (GRCm39)	M198L	probably damaging	Het
Galt	C	T	4: 41,755,953 (GRCm39)		probably benign	Het
Glipr1l1	A	G	10: 111,896,224 (GRCm39)	K4E	possibly damaging	Het
Gm9945	A	G	11: 53,371,178 (GRCm39)		probably benign	Het
Hspa12a	A	C	19: 58,787,842 (GRCm39)	I660R	possibly damaging	Het
Htr3b	T	C	9: 48,856,804 (GRCm39)	I225V	possibly damaging	Het
Igf2r	T	C	17: 12,967,650 (GRCm39)	D23G	possibly damaging	Het
Igsf5	A	G	16: 96,187,781 (GRCm39)	I158V	probably benign	Het
Itgae	A	G	11: 73,009,331 (GRCm39)	Y505C	possibly damaging	Het
Kif16b	A	G	2: 142,704,465 (GRCm39)		probably benign	Het
Kif26b	T	C	1: 178,743,912 (GRCm39)	V1336A	probably benign	Het
Kmt2d	A	G	15: 98,762,001 (GRCm39)	S450P	unknown	Het
Lhfpl2	G	A	13: 94,310,734 (GRCm39)	M1I	probably null	Het
Lig4	A	G	8: 10,021,116 (GRCm39)	I888T	probably damaging	Het
Msh4	G	A	3: 153,573,383 (GRCm39)	T563M	probably damaging	Het
Muc5ac	C	T	7: 141,370,781 (GRCm39)	A3238V	probably benign	Het
Myo15b	A	G	11: 115,780,879 (GRCm39)	S1246G	probably null	Het
Or5h25	T	C	16: 58,930,134 (GRCm39)	I280V	probably benign	Het
Pecam1	G	A	11: 106,562,600 (GRCm39)	T599M	probably damaging	Het
Phf3	G	A	1: 30,869,117 (GRCm39)	P644S	probably benign	Het
Pkd1l1	A	C	11: 8,794,560 (GRCm39)	F2317C	possibly damaging	Het
Prdm4	A	G	10: 85,736,801 (GRCm39)	M613T	possibly damaging	Het
Ptprs	T	C	17: 56,721,958 (GRCm39)	D1316G	probably damaging	Het
Rnf19b	C	T	4: 128,967,315 (GRCm39)	R285*	probably null	Het
Secisbp2	A	G	13: 51,824,894 (GRCm39)	N381D	possibly damaging	Het
Slc28a2	T	C	2: 122,288,652 (GRCm39)	I586T	probably damaging	Het
Spef1	T	C	2: 131,016,562 (GRCm39)	H11R	possibly damaging	Het
Taar4	T	C	10: 23,836,909 (GRCm39)	L173S	probably damaging	Het
Tas2r123	T	C	6: 132,824,703 (GRCm39)	F200S	possibly damaging	Het
Tex16	T	A	X: 111,028,653 (GRCm39)	L384Q	probably benign	Het
Tox2	A	G	2: 163,118,100 (GRCm39)	Q168R	probably damaging	Het
Trim5	T	A	7: 103,927,624 (GRCm39)	E172V	probably damaging	Het
Txndc11	G	A	16: 10,892,881 (GRCm39)		probably benign	Het
Vmn1r232	T	A	17: 21,134,175 (GRCm39)	I142F	probably benign	Het
Zdhhc25	A	T	15: 88,485,472 (GRCm39)	H269L	probably benign	Het
Znrf4	T	C	17: 56,819,199 (GRCm39)	D36G	probably damaging	Het

Other mutations in Prim2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Prim2	APN	1	33,551,241 (GRCm39)	missense	probably damaging	1.00
R0398:Prim2	UTSW	1	33,523,757 (GRCm39)	splice site	probably benign
R0686:Prim2	UTSW	1	33,553,270 (GRCm39)	missense	probably benign
R1452:Prim2	UTSW	1	33,669,485 (GRCm39)	missense	probably benign
R3925:Prim2	UTSW	1	33,572,380 (GRCm39)	missense	probably damaging	1.00
R4398:Prim2	UTSW	1	33,551,192 (GRCm39)	missense	probably damaging	1.00
R4831:Prim2	UTSW	1	33,709,217 (GRCm39)	unclassified	probably benign
R4832:Prim2	UTSW	1	33,503,145 (GRCm39)	missense	probably benign
R5057:Prim2	UTSW	1	33,669,441 (GRCm39)	nonsense	probably null
R5240:Prim2	UTSW	1	33,519,397 (GRCm39)	intron	probably benign
R5294:Prim2	UTSW	1	33,707,974 (GRCm39)	missense	probably benign	0.11
R5771:Prim2	UTSW	1	33,493,232 (GRCm39)	missense	unknown
R5807:Prim2	UTSW	1	33,519,487 (GRCm39)	intron	probably benign
R6307:Prim2	UTSW	1	33,701,373 (GRCm39)	missense	probably benign	0.00
R7165:Prim2	UTSW	1	33,667,474 (GRCm39)	critical splice donor site	probably null
R8904:Prim2	UTSW	1	33,669,513 (GRCm39)	missense	possibly damaging	0.90
R9435:Prim2	UTSW	1	33,523,876 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16