Mutagenetix > Incidental Mutation

Incidental Mutation 'R1469:Primpol'

197827

Institutional Source

Beutler Lab

Gene Symbol

Primpol

Ensembl Gene

ENSMUSG00000038225

Gene Name

primase and polymerase (DNA-directed)

Synonyms

Ccdc111

MMRRC Submission

039522-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1469 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47028629-47070247 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47046672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 208 (V208A)

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
AA Change: V208A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036119
Gene: ENSMUSG00000038225
AA Change: V208A

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
AA Change: V208A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000209787
AA Change: V208A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000211400
AA Change: V208A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 90.6%

Validation Efficiency

98% (95/97)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 77,039,526 (GRCm39)	V261E	probably damaging	Het
Abca15	A	G	7: 119,981,720 (GRCm39)	E1058G	probably benign	Het
Abcb5	T	G	12: 118,831,681 (GRCm39)	I1224L	possibly damaging	Het
Actn4	G	A	7: 28,597,691 (GRCm39)		probably benign	Het
Actn4	A	G	7: 28,604,753 (GRCm39)	V348A	probably benign	Het
Agtr1b	A	T	3: 20,369,664 (GRCm39)	L314H	probably damaging	Het
Ankrd55	T	C	13: 112,504,460 (GRCm39)	M402T	probably benign	Het
Antxrl	T	C	14: 33,789,388 (GRCm39)		probably benign	Het
Asap2	A	G	12: 21,263,180 (GRCm39)	Q265R	probably benign	Het
Atp2b4	G	A	1: 133,634,677 (GRCm39)	R1124C	probably damaging	Het
Atp2c1	A	T	9: 105,312,351 (GRCm39)	C353*	probably null	Het
Atp8b5	T	A	4: 43,291,733 (GRCm39)		probably null	Het
Baz1b	T	A	5: 135,246,833 (GRCm39)	Y761N	probably damaging	Het
Bend6	A	G	1: 33,903,824 (GRCm39)	V38A	probably benign	Het
Camk1g	T	C	1: 193,044,399 (GRCm39)	E5G	possibly damaging	Het
Ccdc14	T	A	16: 34,527,152 (GRCm39)	H352Q	probably damaging	Het
Cdh2	A	G	18: 16,757,324 (GRCm39)	V641A	possibly damaging	Het
Celsr2	C	A	3: 108,321,424 (GRCm39)	D463Y	probably damaging	Het
Cldn16	C	A	16: 26,292,930 (GRCm39)		probably benign	Het
Clec7a	A	C	6: 129,449,535 (GRCm39)		probably benign	Het
Cnih2	T	C	19: 5,143,730 (GRCm39)	Y142C	probably damaging	Het
Coa5	T	A	1: 37,459,681 (GRCm39)	R71*	probably null	Het
Csmd3	A	T	15: 47,532,598 (GRCm39)	Y2532*	probably null	Het
Cytl1	A	T	5: 37,892,991 (GRCm39)	M34L	probably benign	Het
Dctn1	T	A	6: 83,169,871 (GRCm39)	I590N	probably damaging	Het
Dhx57	T	C	17: 80,561,847 (GRCm39)	H889R	probably damaging	Het
Dock10	A	G	1: 80,490,275 (GRCm39)	I1948T	probably benign	Het
Dock3	A	T	9: 106,832,908 (GRCm39)	N1034K	probably benign	Het
Dzip1l	G	A	9: 99,541,829 (GRCm39)		probably null	Het
Eif4g1	T	A	16: 20,498,758 (GRCm39)	V439E	possibly damaging	Het
Eml5	T	C	12: 98,825,082 (GRCm39)	I712V	probably benign	Het
Entrep1	G	A	19: 23,950,970 (GRCm39)	T537I	probably benign	Het
Epha3	C	T	16: 63,473,857 (GRCm39)	G300D	probably damaging	Het
Erbb4	A	C	1: 68,599,841 (GRCm39)	S79A	probably damaging	Het
Gclc	T	C	9: 77,688,419 (GRCm39)	V205A	probably benign	Het
Gdpd4	A	G	7: 97,623,673 (GRCm39)		probably null	Het
Gm11564	C	T	11: 99,706,058 (GRCm39)	C124Y	unknown	Het
Gm16494	T	C	17: 47,327,770 (GRCm39)	E38G	probably damaging	Het
Gtf2h1	T	C	7: 46,454,549 (GRCm39)		probably null	Het
Gtsf2	G	T	15: 103,349,644 (GRCm39)	R68S	probably benign	Het
Heatr5b	T	C	17: 79,115,813 (GRCm39)	Q881R	probably damaging	Het
Hmox1	C	A	8: 75,825,463 (GRCm39)	L236I	probably benign	Het
Ighv8-12	T	C	12: 115,611,963 (GRCm39)	I7V	probably benign	Het
Itprip	A	G	19: 47,885,314 (GRCm39)	Y434H	probably damaging	Het
Izumo1	T	C	7: 45,272,437 (GRCm39)	S73P	probably damaging	Het
Kifbp	A	T	10: 62,395,229 (GRCm39)	F471Y	probably damaging	Het
Knl1	A	G	2: 118,901,827 (GRCm39)	N1176S	possibly damaging	Het
Limch1	T	C	5: 67,039,323 (GRCm39)		probably benign	Het
Mecom	A	T	3: 30,034,197 (GRCm39)	L493Q	probably damaging	Het
Mprip	T	C	11: 59,650,016 (GRCm39)	V1240A	probably damaging	Het
Mrpl3	T	C	9: 104,954,201 (GRCm39)	S302P	probably damaging	Het
Muc19	T	C	15: 91,758,498 (GRCm39)		noncoding transcript	Het
Mycbp2	T	C	14: 103,425,956 (GRCm39)	T2390A	probably damaging	Het
Myo1c	T	C	11: 75,560,787 (GRCm39)	S766P	probably damaging	Het
Myo9b	A	G	8: 71,743,680 (GRCm39)	Q247R	probably damaging	Het
Nav3	G	A	10: 109,596,369 (GRCm39)	T1423I	probably damaging	Het
Nefh	A	T	11: 4,890,066 (GRCm39)	I851N	probably benign	Het
Nup98	T	C	7: 101,788,008 (GRCm39)	T1004A	probably benign	Het
Or1e17	T	C	11: 73,831,383 (GRCm39)	F104L	probably benign	Het
Or1e22	G	A	11: 73,377,149 (GRCm39)	S167L	possibly damaging	Het
Or5k8	G	A	16: 58,644,973 (GRCm39)	T33I	probably benign	Het
Or5p76	T	C	7: 108,122,411 (GRCm39)	T249A	probably benign	Het
Osgin1	G	T	8: 120,172,124 (GRCm39)	R306L	possibly damaging	Het
Otof	A	G	5: 30,537,571 (GRCm39)	L1246P	probably benign	Het
Pde8a	T	A	7: 80,952,019 (GRCm39)	N273K	probably damaging	Het
Phf14	T	A	6: 11,933,726 (GRCm39)	M196K	possibly damaging	Het
Pkd1l3	T	C	8: 110,373,585 (GRCm39)	S1374P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,400,282 (GRCm39)	V2142A	probably benign	Het
Plb1	A	G	5: 32,512,170 (GRCm39)	E1318G	possibly damaging	Het
Plekhh2	A	G	17: 84,883,199 (GRCm39)	I756V	probably benign	Het
Prag1	A	T	8: 36,613,452 (GRCm39)		probably benign	Het
Ptch2	C	A	4: 116,965,662 (GRCm39)	A389E	probably benign	Het
Pzp	A	G	6: 128,489,319 (GRCm39)	Y431H	probably benign	Het
Rnf43	G	A	11: 87,622,233 (GRCm39)	G445R	probably damaging	Het
Scn5a	A	T	9: 119,362,727 (GRCm39)		probably null	Het
Sf3a1	A	T	11: 4,125,380 (GRCm39)		probably benign	Het
Shisa9	T	A	16: 11,802,935 (GRCm39)	M164K	probably damaging	Het
Skint1	A	G	4: 111,882,708 (GRCm39)	I251V	probably benign	Het
Slc16a14	C	T	1: 84,907,182 (GRCm39)	D31N	probably damaging	Het
Slc22a13	T	C	9: 119,022,361 (GRCm39)	S548G	possibly damaging	Het
Slc4a9	T	C	18: 36,664,154 (GRCm39)	F316L	probably benign	Het
Smchd1	C	T	17: 71,656,725 (GRCm39)	R1914H	probably damaging	Het
Snx16	C	T	3: 10,499,431 (GRCm39)	D200N	probably damaging	Het
Spock3	A	G	8: 63,404,934 (GRCm39)	D34G	probably damaging	Het
Sspo	T	C	6: 48,467,916 (GRCm39)	C4154R	probably damaging	Het
Sytl3	C	T	17: 6,954,723 (GRCm39)	A131V	probably benign	Het
Tacc1	T	A	8: 25,672,271 (GRCm39)	D319V	probably benign	Het
Tead1	A	T	7: 112,475,391 (GRCm39)	K234I	probably damaging	Het
Tgfbrap1	C	T	1: 43,114,618 (GRCm39)	V161I	probably benign	Het
Tmem94	T	C	11: 115,685,917 (GRCm39)		probably benign	Het
Tnfaip3	A	G	10: 18,884,017 (GRCm39)	V121A	probably damaging	Het
Tnnt2	A	G	1: 135,779,793 (GRCm39)	T297A	possibly damaging	Het
Trappc11	G	A	8: 47,957,000 (GRCm39)	L809F	probably damaging	Het
Ttn	T	C	2: 76,601,869 (GRCm39)	I18598V	probably benign	Het
Ube2o	A	G	11: 116,436,650 (GRCm39)		probably benign	Het
Unc5a	A	G	13: 55,144,232 (GRCm39)	N186D	probably damaging	Het
Uqcrfs1	C	A	13: 30,724,784 (GRCm39)	G252V	probably damaging	Het
Vmn2r115	T	C	17: 23,564,992 (GRCm39)	I293T	probably damaging	Het
Vmn2r9	T	C	5: 108,991,694 (GRCm39)	T556A	probably benign	Het
Wnk1	G	A	6: 119,927,645 (GRCm39)		probably benign	Het
Ythdc2	T	A	18: 44,997,529 (GRCm39)	Y1029N	probably benign	Het
Zfp451	T	A	1: 33,808,894 (GRCm39)	K989M	possibly damaging	Het
Zfpm1	C	T	8: 123,062,585 (GRCm39)	T548M	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
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
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'- GGATGACAGCACCTAAGCATAGCC -3'
(R):5'- TCCTTCAGTCACTGCCTAGAAGCC -3'

Sequencing Primer
(F):5'- AGTGGACAGTGCCAATGTTACTC -3'
(R):5'- CCATCCTAGCAACATGGTGTG -3'

Posted On

2014-05-23