Mutagenetix > Incidental Mutation

Incidental Mutation 'R1738:Primpol'

199871

Institutional Source

Beutler Lab

Gene Symbol

Primpol

Ensembl Gene

ENSMUSG00000038225

Gene Name

primase and polymerase (DNA-directed)

Synonyms

Ccdc111

MMRRC Submission

039770-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1738 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47028629-47070247 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47060873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 82 (S82P)

Ref Sequence

ENSEMBL: ENSMUSP00000147458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040468] [ENSMUST00000125319] [ENSMUST00000136335] [ENSMUST00000209787] [ENSMUST00000210264] [ENSMUST00000211400]

AlphaFold

Q6P1E7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040468
AA Change: S82P

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036119
Gene: ENSMUSG00000038225
AA Change: S82P

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

possibly damaging
Transcript: ENSMUST00000125319
AA Change: S82P

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132472

Predicted Effect

probably damaging
Transcript: ENSMUST00000136335
AA Change: S82P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209787
AA Change: S82P

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000210264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211143

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211400
AA Change: S82P

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.7%
20x: 89.9%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,682,475 (GRCm39)	Y202C	probably damaging	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adgrl3	T	G	5: 81,535,826 (GRCm39)	M155R	probably damaging	Het
Ak9	A	T	10: 41,211,917 (GRCm39)	Q218L	possibly damaging	Het
Akap13	G	A	7: 75,326,942 (GRCm39)	G647D	probably damaging	Het
Angptl3	A	G	4: 98,921,499 (GRCm39)	T206A	probably benign	Het
Arhgap19	A	G	19: 41,772,820 (GRCm39)	I291T	probably benign	Het
BC049715	C	T	6: 136,817,306 (GRCm39)	P182L	probably damaging	Het
Bsn	T	C	9: 107,984,133 (GRCm39)	D3307G	unknown	Het
Cby2	C	T	14: 75,830,497 (GRCm39)	M1I	probably null	Het
Ces2h	T	A	8: 105,745,697 (GRCm39)		probably null	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Col4a2	T	A	8: 11,496,238 (GRCm39)	F1620I	probably damaging	Het
Col6a3	T	C	1: 90,744,083 (GRCm39)	E88G	probably damaging	Het
Coro6	A	G	11: 77,360,251 (GRCm39)	D407G	probably benign	Het
Cpe	A	T	8: 65,064,475 (GRCm39)	F241L	probably damaging	Het
Csde1	A	G	3: 102,936,493 (GRCm39)		probably benign	Het
Cspg4b	T	G	13: 113,504,034 (GRCm39)	L179R	possibly damaging	Het
Dgki	A	G	6: 37,034,367 (GRCm39)	I361T	possibly damaging	Het
Dnah3	A	G	7: 119,634,582 (GRCm39)	V1298A	probably damaging	Het
Duox2	T	A	2: 122,123,895 (GRCm39)	I430F	probably damaging	Het
Gak	T	C	5: 108,764,842 (GRCm39)	Y153C	probably damaging	Het
Gal3st2	T	A	1: 93,802,318 (GRCm39)		probably null	Het
Gbp11	T	C	5: 105,474,510 (GRCm39)	N389D	probably benign	Het
Grm1	A	G	10: 10,812,163 (GRCm39)	V287A	probably damaging	Het
Hsp90ab1	T	C	17: 45,882,732 (GRCm39)	K36E	probably damaging	Het
Il24	T	A	1: 130,815,099 (GRCm39)		probably null	Het
Ino80d	T	C	1: 63,132,624 (GRCm39)	D13G	probably damaging	Het
Ipp	G	A	4: 116,387,618 (GRCm39)	V399I	probably benign	Het
Kank3	A	T	17: 34,036,168 (GRCm39)	D12V	probably damaging	Het
Lcn12	A	T	2: 25,383,263 (GRCm39)	S74R	probably damaging	Het
Mast3	T	C	8: 71,237,200 (GRCm39)	T637A	probably benign	Het
Nes	C	A	3: 87,883,728 (GRCm39)	Y662*	probably null	Het
Nudt13	A	T	14: 20,359,762 (GRCm39)	H163L	probably damaging	Het
Or1j17	T	C	2: 36,578,797 (GRCm39)	V261A	probably benign	Het
Or4a2	T	C	2: 89,248,362 (GRCm39)	T132A	probably benign	Het
Or4p7	G	A	2: 88,221,671 (GRCm39)	V27I	probably benign	Het
Or8k1	A	T	2: 86,048,060 (GRCm39)		probably null	Het
Pde6b	C	T	5: 108,578,425 (GRCm39)	R788*	probably null	Het
Pex13	A	G	11: 23,599,458 (GRCm39)	L351P	probably benign	Het
Phc1	A	G	6: 122,295,525 (GRCm39)	M942T	probably damaging	Het
Plch1	A	T	3: 63,626,659 (GRCm39)	D571E	probably benign	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Plekhh2	A	G	17: 84,874,125 (GRCm39)	N470S	possibly damaging	Het
Prkg1	T	C	19: 30,764,322 (GRCm39)	D256G	possibly damaging	Het
Prune2	A	G	19: 17,102,374 (GRCm39)	E2511G	probably benign	Het
Rassf8	T	C	6: 145,761,034 (GRCm39)	I120T	probably benign	Het
Rfx4	G	A	10: 84,716,839 (GRCm39)		probably null	Het
Rtp2	A	T	16: 23,746,423 (GRCm39)	N69K	probably benign	Het
Sh3d19	A	T	3: 86,027,913 (GRCm39)	I597F	probably damaging	Het
Sorl1	T	A	9: 42,001,261 (GRCm39)	E246D	probably benign	Het
Tet2	T	A	3: 133,187,148 (GRCm39)	I1094L	probably benign	Het
Tlr4	A	T	4: 66,759,313 (GRCm39)	H702L	probably benign	Het
Tnfrsf14	T	C	4: 155,009,788 (GRCm39)	D47G	probably damaging	Het
Ttn	T	C	2: 76,777,157 (GRCm39)	Y1415C	probably damaging	Het
Vmn2r17	T	A	5: 109,576,377 (GRCm39)	F416Y	probably benign	Het
Vmn2r54	A	G	7: 12,369,815 (GRCm39)	S83P	probably benign	Het
Vtn	A	G	11: 78,390,422 (GRCm39)	D53G	possibly damaging	Het
Vwde	A	T	6: 13,190,723 (GRCm39)	V456D	probably damaging	Het
Wdr91	G	A	6: 34,861,243 (GRCm39)	P653L	probably damaging	Het
Ythdf1	G	A	2: 180,553,285 (GRCm39)	A283V	probably benign	Het
Zfp975	C	A	7: 42,312,373 (GRCm39)	W80L	probably benign	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
R1524:Primpol	UTSW	8	47,039,502 (GRCm39)	intron	probably benign
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'- TGCAACCACCTCTTTCACAAAGGAAC -3'
(R):5'- GATAGCATGGGTCTGATGACTGTCTTG -3'

Sequencing Primer
(F):5'- tgacttcccatcctgactcc -3'
(R):5'- GCTATATCGAGTGACAAAGTTCATG -3'

Posted On

2014-05-23