Mutagenetix > Incidental Mutation

Incidental Mutation 'R5497:Primpol'

432424

Institutional Source

Beutler Lab

Gene Symbol

Primpol

Ensembl Gene

ENSMUSG00000038225

Gene Name

primase and polymerase (DNA-directed)

Synonyms

Ccdc111

MMRRC Submission

043058-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5497 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47028629-47070247 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 47045657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 308 (Y308*)

Ref Sequence

ENSEMBL: ENSMUSP00000147574 (fasta)

Gene Model

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

AlphaFold

Q6P1E7

Predicted Effect

probably null
Transcript: ENSMUST00000040468
AA Change: Y308*

SMART Domains

Protein: ENSMUSP00000036119
Gene: ENSMUSG00000038225
AA Change: Y308*

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 null
Transcript: ENSMUST00000209787
AA Change: Y308*

Predicted Effect

probably null
Transcript: ENSMUST00000211400
AA Change: Y308*

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.2%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,056,360 (GRCm39)	M800K	probably benign	Het
Abca9	G	A	11: 110,021,518 (GRCm39)	A1064V	probably damaging	Het
Acsm2	A	T	7: 119,172,543 (GRCm39)	T129S	possibly damaging	Het
Adamts9	A	T	6: 92,831,346 (GRCm39)	C755S	probably damaging	Het
Adarb1	T	C	10: 77,161,723 (GRCm39)	D2G	probably damaging	Het
Apaf1	G	A	10: 90,835,518 (GRCm39)	A1098V	probably damaging	Het
Asap3	A	G	4: 135,966,533 (GRCm39)	H537R	probably benign	Het
Atp2a2	C	T	5: 122,596,232 (GRCm39)	C887Y	probably damaging	Het
Atp6v0a1	G	A	11: 100,920,011 (GRCm39)	V215M	probably damaging	Het
Cacng8	A	G	7: 3,464,069 (GRCm39)	E407G	probably benign	Het
Capn8	G	A	1: 182,447,745 (GRCm39)	E535K	probably benign	Het
Cebpe	A	G	14: 54,948,052 (GRCm39)	F264L	probably benign	Het
Ces1c	A	C	8: 93,857,343 (GRCm39)	N79K	possibly damaging	Het
Cfap58	T	G	19: 48,017,548 (GRCm39)	S803A	probably benign	Het
Cpa1	A	G	6: 30,640,729 (GRCm39)	T124A	probably benign	Het
Csmd1	A	G	8: 16,135,195 (GRCm39)	S1654P	probably benign	Het
Dmbt1	A	T	7: 130,665,133 (GRCm39)		probably benign	Het
Eif3e	T	C	15: 43,134,366 (GRCm39)	Y127C	probably damaging	Het
Fhip2a	G	C	19: 57,369,583 (GRCm39)		probably null	Het
Galnt5	T	C	2: 57,915,340 (GRCm39)	M632T	probably damaging	Het
Gja8	A	G	3: 96,827,513 (GRCm39)	S50P	probably damaging	Het
Gon7	A	G	12: 102,720,363 (GRCm39)	S90P	probably benign	Het
Gucy2g	C	T	19: 55,187,133 (GRCm39)	V1096I	probably benign	Het
Gxylt2	A	G	6: 100,764,290 (GRCm39)	N325S	probably benign	Het
H2-Ob	A	G	17: 34,460,144 (GRCm39)	D85G	probably benign	Het
Heatr1	T	A	13: 12,435,945 (GRCm39)	I1161N	possibly damaging	Het
Hjurp	G	A	1: 88,194,042 (GRCm39)	H289Y	possibly damaging	Het
Hsd3b7	A	G	7: 127,401,060 (GRCm39)	Y99C	probably damaging	Het
Ifnar1	T	G	16: 91,302,252 (GRCm39)	Y21D	probably benign	Het
Isoc2b	C	T	7: 4,853,782 (GRCm39)	V131I	probably benign	Het
Klc3	T	C	7: 19,128,595 (GRCm39)	I500V	probably benign	Het
Lrp5	C	A	19: 3,652,319 (GRCm39)	G1184W	probably damaging	Het
Map2k4	A	G	11: 65,626,031 (GRCm39)	I136T	probably damaging	Het
Map3k7	T	C	4: 31,991,719 (GRCm39)	F319S	possibly damaging	Het
Muc5ac	A	G	7: 141,361,380 (GRCm39)	T1564A	probably damaging	Het
Nptx2	A	T	5: 144,492,999 (GRCm39)	D362V	probably damaging	Het
Nutf2-ps1	A	T	19: 53,577,265 (GRCm39)	I52N	probably damaging	Het
Or2aj4	C	T	16: 19,385,080 (GRCm39)	M184I	probably benign	Het
Pkhd1	T	A	1: 20,447,628 (GRCm39)	Y2255F	possibly damaging	Het
Retreg2	G	A	1: 75,121,633 (GRCm39)	V219I	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rph3a	T	A	5: 121,080,253 (GRCm39)	E675V	probably benign	Het
Ryr2	A	T	13: 11,720,587 (GRCm39)	M2687K	probably null	Het
Shank2	A	G	7: 143,963,271 (GRCm39)	D293G	probably damaging	Het
Snx6	A	G	12: 54,803,846 (GRCm39)	V154A	probably damaging	Het
Srm	G	T	4: 148,678,566 (GRCm39)	Q264H	probably benign	Het
Styk1	A	T	6: 131,281,670 (GRCm39)	I316N	probably damaging	Het
Syne2	A	G	12: 75,927,163 (GRCm39)	N103S	probably benign	Het
Tas2r105	G	A	6: 131,663,805 (GRCm39)		probably null	Het
Tbcel	T	A	9: 42,363,041 (GRCm39)	M1L	possibly damaging	Het
Tlr3	C	T	8: 45,851,851 (GRCm39)	D349N	possibly damaging	Het
Tm9sf3	T	C	19: 41,203,555 (GRCm39)	S574G	probably benign	Het
Usp31	A	T	7: 121,250,824 (GRCm39)	V783E	probably damaging	Het
Vmn2r61	T	A	7: 41,924,906 (GRCm39)	Y487N	possibly damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Zfp980	A	G	4: 145,428,017 (GRCm39)	K249E	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
R1524:Primpol	UTSW	8	47,039,502 (GRCm39)	intron	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
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'- AACAGCGGGCTATGAATGGTC -3'
(R):5'- GCAGGAAAGTATTGTCTGCTGAC -3'

Sequencing Primer
(F):5'- GTGATTTTAGAATAACTGGAAAGTGC -3'
(R):5'- GTCTGCTGACATAAAACAAATTGTGG -3'

Posted On

2016-10-05