Mutagenetix > Incidental Mutation

Incidental Mutation 'R1524:Primpol'

167717

Institutional Source

Beutler Lab

Gene Symbol

Primpol

Ensembl Gene

ENSMUSG00000038225

Gene Name

primase and polymerase (DNA-directed)

Synonyms

Ccdc111

MMRRC Submission

039565-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1524 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47028629-47070247 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 47039502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147574 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040468] [ENSMUST00000136335] [ENSMUST00000209787] [ENSMUST00000211400]

AlphaFold

Q6P1E7

Predicted Effect

probably benign
Transcript: ENSMUST00000040468

SMART Domains

Protein: ENSMUSP00000036119
Gene: ENSMUSG00000038225

Domain	Start	End	E-Value	Type
Pfam:Herpes_UL52	384	448	1.3e-19	PFAM
low complexity region	465	478	N/A	INTRINSIC
low complexity region	491	516	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123328

Predicted Effect

probably benign
Transcript: ENSMUST00000136335

Predicted Effect

probably benign
Transcript: ENSMUST00000209787

Predicted Effect

probably benign
Transcript: ENSMUST00000211400

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well as DNA polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous null mutants are viable and fertile. Mice homozygous for another knock-out allele exhibit selective increase in C to G transversions in B cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	G	T	5: 88,119,548 (GRCm39)	V102L	probably benign	Het
Adck1	T	C	12: 88,368,854 (GRCm39)	Y111H	probably damaging	Het
Adcy10	G	T	1: 165,345,972 (GRCm39)	K340N	probably damaging	Het
Aebp1	T	C	11: 5,820,089 (GRCm39)	V355A	probably damaging	Het
Atp2b2	T	C	6: 113,751,162 (GRCm39)		probably benign	Het
Atrn	T	C	2: 130,799,000 (GRCm39)	V390A	probably benign	Het
Bpifc	T	A	10: 85,813,599 (GRCm39)	Q315L	probably benign	Het
C1qtnf6	T	G	15: 78,409,092 (GRCm39)		probably null	Het
Cab39l	A	G	14: 59,757,186 (GRCm39)		probably benign	Het
Capn12	T	A	7: 28,582,189 (GRCm39)		probably benign	Het
Ceacam18	A	C	7: 43,288,779 (GRCm39)	T177P	possibly damaging	Het
Ces5a	A	T	8: 94,252,293 (GRCm39)	F200I	probably damaging	Het
Cldn19	G	T	4: 119,114,248 (GRCm39)		probably null	Het
Cntnap2	A	G	6: 46,507,613 (GRCm39)	S46P	probably damaging	Het
Dchs1	A	G	7: 105,413,732 (GRCm39)	Y1028H	probably damaging	Het
Exd1	A	T	2: 119,355,155 (GRCm39)	F253L	probably damaging	Het
Fam161a	A	G	11: 22,965,826 (GRCm39)	N40D	possibly damaging	Het
Fam81a	A	T	9: 70,032,390 (GRCm39)	I34N	probably damaging	Het
Fchsd1	A	C	18: 38,098,950 (GRCm39)		probably null	Het
Fut11	T	A	14: 20,746,234 (GRCm39)	F359I	possibly damaging	Het
Fut7	T	C	2: 25,315,159 (GRCm39)	V92A	probably damaging	Het
Grid2	C	G	6: 64,406,738 (GRCm39)	F699L	possibly damaging	Het
Grin2a	A	G	16: 9,481,467 (GRCm39)	S445P	possibly damaging	Het
H2al2b	A	C	Y: 2,720,391 (GRCm39)	F95C	probably damaging	Het
Hecw2	T	C	1: 53,890,777 (GRCm39)	D1246G	probably damaging	Het
Ifit1	A	G	19: 34,625,032 (GRCm39)	N56S	probably damaging	Het
Ldb3	C	A	14: 34,277,313 (GRCm39)	V354L	probably benign	Het
Lrig2	T	C	3: 104,371,192 (GRCm39)	Y479C	probably benign	Het
Ltn1	A	G	16: 87,178,444 (GRCm39)	V1595A	probably damaging	Het
Macf1	A	G	4: 123,326,323 (GRCm39)	V2939A	possibly damaging	Het
Mapre3	T	G	5: 31,019,261 (GRCm39)	I35S	probably damaging	Het
Med16	A	T	10: 79,734,150 (GRCm39)	L588Q	probably damaging	Het
Ncapg2	T	C	12: 116,398,198 (GRCm39)		probably benign	Het
Ncstn	C	A	1: 171,899,716 (GRCm39)	R322L	possibly damaging	Het
Ndst1	A	T	18: 60,831,576 (GRCm39)	I594N	probably damaging	Het
Ndst3	A	G	3: 123,342,555 (GRCm39)	I752T	possibly damaging	Het
Obscn	G	T	11: 59,006,681 (GRCm39)	S1185R	probably damaging	Het
Or5b112	T	A	19: 13,319,486 (GRCm39)	C121*	probably null	Het
Or6aa1	A	G	7: 86,044,020 (GRCm39)	S229P	probably benign	Het
Or9q1	A	T	19: 13,805,679 (GRCm39)	L27H	probably damaging	Het
Otof	T	A	5: 30,536,900 (GRCm39)	D1285V	probably benign	Het
Pcnx2	A	G	8: 126,617,880 (GRCm39)	I125T	probably benign	Het
Pde4a	T	C	9: 21,112,543 (GRCm39)	S240P	probably damaging	Het
Pi15	T	C	1: 17,690,076 (GRCm39)	S126P	probably benign	Het
Pkhd1	T	C	1: 20,188,004 (GRCm39)	S3435G	probably damaging	Het
Plin1	C	A	7: 79,376,338 (GRCm39)	V133L	probably benign	Het
Pnpt1	T	A	11: 29,080,776 (GRCm39)	C7S	unknown	Het
Ppp3ca	A	T	3: 136,503,579 (GRCm39)	M51L	probably benign	Het
Prlr	T	C	15: 10,319,419 (GRCm39)	V116A	probably damaging	Het
Ptgr3	A	G	18: 84,112,831 (GRCm39)	E169G	probably benign	Het
Rnf139	A	G	15: 58,761,266 (GRCm39)	D35G	probably damaging	Het
Rsbn1l	T	A	5: 21,156,671 (GRCm39)	K38M	probably damaging	Het
Ryr3	T	A	2: 112,699,427 (GRCm39)	I888F	probably damaging	Het
Sec16a	C	A	2: 26,318,394 (GRCm39)	V1566F	probably damaging	Het
Sin3b	A	G	8: 73,479,915 (GRCm39)	T874A	probably benign	Het
Skic3	T	A	13: 76,286,491 (GRCm39)	D891E	probably benign	Het
Slc5a5	A	C	8: 71,344,978 (GRCm39)	Y110D	probably damaging	Het
Smarcd2	C	T	11: 106,157,978 (GRCm39)	V97I	probably benign	Het
St6galnac2	G	A	11: 116,575,313 (GRCm39)		probably benign	Het
Tbc1d22b	T	C	17: 29,789,585 (GRCm39)	L149P	probably damaging	Het
Tekt2	T	C	4: 126,217,442 (GRCm39)	I208V	probably benign	Het
Tenm3	A	G	8: 48,682,016 (GRCm39)	I2522T	possibly damaging	Het
Ttll5	T	A	12: 85,911,342 (GRCm39)	Y233*	probably null	Het
Vcpip1	C	T	1: 9,794,727 (GRCm39)	E1215K	probably damaging	Het
Wdr4	T	C	17: 31,728,737 (GRCm39)		probably benign	Het
Zfp703	G	A	8: 27,469,401 (GRCm39)	G355D	probably damaging	Het
Zfp830	T	A	11: 82,655,794 (GRCm39)	D199E	probably damaging	Het

Other mutations in Primpol

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Primpol	APN	8	47,034,632 (GRCm39)	missense	probably damaging	0.98
IGL02421:Primpol	APN	8	47,060,830 (GRCm39)	splice site	probably benign
IGL02886:Primpol	APN	8	47,046,619 (GRCm39)	nonsense	probably null
IGL03244:Primpol	APN	8	47,039,475 (GRCm39)	missense	probably damaging	1.00
R0243:Primpol	UTSW	8	47,052,849 (GRCm39)	missense	probably damaging	1.00
R0329:Primpol	UTSW	8	47,063,496 (GRCm39)	missense	probably damaging	0.97
R0330:Primpol	UTSW	8	47,063,496 (GRCm39)	missense	probably damaging	0.97
R0571:Primpol	UTSW	8	47,034,674 (GRCm39)	missense	probably damaging	1.00
R1266:Primpol	UTSW	8	47,046,734 (GRCm39)	missense	probably damaging	1.00
R1334:Primpol	UTSW	8	47,039,426 (GRCm39)	missense	probably damaging	1.00
R1469:Primpol	UTSW	8	47,046,672 (GRCm39)	missense	probably benign
R1469:Primpol	UTSW	8	47,046,672 (GRCm39)	missense	probably benign
R1738:Primpol	UTSW	8	47,060,873 (GRCm39)	missense	probably damaging	0.98
R2144:Primpol	UTSW	8	47,039,378 (GRCm39)	missense	probably damaging	0.99
R3747:Primpol	UTSW	8	47,052,848 (GRCm39)	missense	probably benign	0.34
R3748:Primpol	UTSW	8	47,052,848 (GRCm39)	missense	probably benign	0.34
R3750:Primpol	UTSW	8	47,052,848 (GRCm39)	missense	probably benign	0.34
R4378:Primpol	UTSW	8	47,029,218 (GRCm39)	utr 3 prime	probably benign
R4855:Primpol	UTSW	8	47,039,726 (GRCm39)	missense	probably benign	0.00
R5209:Primpol	UTSW	8	47,043,295 (GRCm39)	missense	probably benign	0.00
R5497:Primpol	UTSW	8	47,045,657 (GRCm39)	nonsense	probably null
R5720:Primpol	UTSW	8	47,034,677 (GRCm39)	missense	probably damaging	1.00
R5963:Primpol	UTSW	8	47,046,615 (GRCm39)	missense	possibly damaging	0.93
R6164:Primpol	UTSW	8	47,039,477 (GRCm39)	missense	probably benign	0.10
R6497:Primpol	UTSW	8	47,039,376 (GRCm39)	critical splice donor site	probably null
R6549:Primpol	UTSW	8	47,058,185 (GRCm39)	missense	probably damaging	1.00
R7595:Primpol	UTSW	8	47,063,650 (GRCm39)	missense	probably benign	0.00
R7775:Primpol	UTSW	8	47,039,459 (GRCm39)	missense	probably damaging	1.00
R7778:Primpol	UTSW	8	47,039,459 (GRCm39)	missense	probably damaging	1.00
R7824:Primpol	UTSW	8	47,039,459 (GRCm39)	missense	probably damaging	1.00
R8055:Primpol	UTSW	8	47,032,197 (GRCm39)	missense	probably benign	0.34
R8840:Primpol	UTSW	8	47,046,731 (GRCm39)	missense	probably damaging	1.00
R8992:Primpol	UTSW	8	47,034,597 (GRCm39)	splice site	probably benign
R9356:Primpol	UTSW	8	47,043,318 (GRCm39)	missense	probably benign	0.00
R9388:Primpol	UTSW	8	47,034,605 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- CCAAGTAGTGCCCTTTCAAATCTACCC -3'
(R):5'- TGACATTAAAGGAGGTAAGGCTTGGCT -3'

Sequencing Primer
(F):5'- agccatctcaccagccc -3'
(R):5'- AGGTAAGGCTTGGCTTTCTCTC -3'

Posted On

2014-04-13