Mutagenetix > Incidental Mutation

Incidental Mutation 'R7775:Primpol'

598831

Institutional Source

Beutler Lab

Gene Symbol

Primpol

Ensembl Gene

ENSMUSG00000038225

Gene Name

primase and polymerase (DNA-directed)

Synonyms

Ccdc111

MMRRC Submission

045831-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7775 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47028629-47070247 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 47039459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 387 (P387Q)

Ref Sequence

ENSEMBL: ENSMUSP00000036119 (fasta)

Gene Model

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

AlphaFold

Q6P1E7

Predicted Effect

probably damaging
Transcript: ENSMUST00000040468
AA Change: P387Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000036119
Gene: ENSMUSG00000038225
AA Change: P387Q

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 damaging
Transcript: ENSMUST00000209787
AA Change: P387Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211400
AA Change: P387Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.1973

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap35	T	C	7: 16,296,573 (GRCm39)	K831E	probably benign	Het
Arpc1a	C	T	5: 145,041,622 (GRCm39)	R302C	probably benign	Het
Asb5	A	C	8: 55,037,827 (GRCm39)	H173P		Het
Atp6v0a2	A	G	5: 124,779,443 (GRCm39)	E186G	probably damaging	Het
Bbs2	A	T	8: 94,816,388 (GRCm39)		probably null	Het
Capn7	A	G	14: 31,074,367 (GRCm39)	T257A	probably benign	Het
Car4	T	C	11: 84,856,449 (GRCm39)	S246P	probably damaging	Het
Chrm5	A	G	2: 112,310,301 (GRCm39)	S272P	probably benign	Het
Chrna6	T	C	8: 27,897,392 (GRCm39)	I162V	probably damaging	Het
Chst12	T	A	5: 140,509,376 (GRCm39)	M1K	probably null	Het
Cldn6	T	A	17: 23,900,581 (GRCm39)	C182S	probably damaging	Het
Coro6	T	G	11: 77,356,599 (GRCm39)	D102E	probably benign	Het
Cysltr2	A	G	14: 73,267,203 (GRCm39)	I169T	probably benign	Het
Dtx4	G	T	19: 12,469,374 (GRCm39)	P251Q	probably benign	Het
Dyrk3	C	T	1: 131,057,364 (GRCm39)	V270I	possibly damaging	Het
Efhc1	A	T	1: 21,049,685 (GRCm39)	Y515F	probably damaging	Het
Ep300	T	C	15: 81,470,887 (GRCm39)	S20P	unknown	Het
Fmnl2	C	T	2: 52,963,692 (GRCm39)	L275F	unknown	Het
Fstl4	C	T	11: 53,067,798 (GRCm39)	Q554*	probably null	Het
Gal3st2b	G	T	1: 93,868,506 (GRCm39)	D246Y	probably damaging	Het
Gkap1	A	T	13: 58,398,966 (GRCm39)	D188E	probably benign	Het
Gm14226	T	A	2: 154,866,630 (GRCm39)	C196S	possibly damaging	Het
Gm8297	A	G	14: 16,167,939 (GRCm39)	N193S	possibly damaging	Het
Grm8	T	C	6: 27,363,671 (GRCm39)	R615G	possibly damaging	Het
Ing1	A	G	8: 11,611,814 (GRCm39)	E178G	probably benign	Het
Kansl3	A	T	1: 36,387,758 (GRCm39)	L530H	probably damaging	Het
Kcna5	A	T	6: 126,511,768 (GRCm39)	L120*	probably null	Het
Kif26b	T	A	1: 178,692,441 (GRCm39)	S461T	probably benign	Het
L3mbtl3	A	T	10: 26,228,215 (GRCm39)	V15E	unknown	Het
Lama4	A	T	10: 38,954,843 (GRCm39)	H1132L	probably damaging	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Ldlrad4	T	C	18: 68,368,827 (GRCm39)	S95P	probably damaging	Het
Liph	G	T	16: 21,777,664 (GRCm39)	L379I	probably damaging	Het
Lrp2	T	A	2: 69,331,883 (GRCm39)	E1624V	possibly damaging	Het
Matn2	A	T	15: 34,399,223 (GRCm39)	H370L	possibly damaging	Het
Mettl23	T	G	11: 116,740,096 (GRCm39)	V189G	probably benign	Het
Mpp4	G	A	1: 59,162,672 (GRCm39)	T543M	not run	Het
Mrps15	A	T	4: 125,945,170 (GRCm39)	N119I	probably damaging	Het
Or10d4	C	A	9: 39,580,534 (GRCm39)	F60L	possibly damaging	Het
Or5ac21	A	T	16: 59,123,614 (GRCm39)	I33F	probably damaging	Het
Or7d9	A	G	9: 20,193,708 (GRCm39)		probably benign	Het
Or8b36	T	A	9: 37,937,963 (GRCm39)	I287N	probably damaging	Het
Or8g21	T	A	9: 38,906,203 (GRCm39)	H176L	probably damaging	Het
Pax8	A	G	2: 24,325,913 (GRCm39)	S324P	possibly damaging	Het
Pcdha11	A	T	18: 37,145,733 (GRCm39)	Y608F	possibly damaging	Het
Pcdhga5	A	G	18: 37,828,578 (GRCm39)	D342G	probably damaging	Het
Pde6d	A	G	1: 86,471,250 (GRCm39)	S143P	probably damaging	Het
Plau	A	G	14: 20,892,393 (GRCm39)	S393G	probably benign	Het
Plec	A	T	15: 76,061,135 (GRCm39)	I2934N	probably damaging	Het
Prph2	T	C	17: 47,221,732 (GRCm39)	L37S	possibly damaging	Het
Prrt4	A	G	6: 29,177,718 (GRCm39)	L17P	probably damaging	Het
Pycr3	T	C	15: 75,790,138 (GRCm39)	D171G	probably damaging	Het
Rapgefl1	A	G	11: 98,741,980 (GRCm39)	N648S	probably damaging	Het
Rapsn	A	G	2: 90,875,293 (GRCm39)	T359A	probably benign	Het
Sap25	C	T	5: 137,640,186 (GRCm39)	R66W	probably benign	Het
Setd6	A	T	8: 96,442,866 (GRCm39)	H101L	probably benign	Het
Slc22a3	G	T	17: 12,683,350 (GRCm39)	A171E	probably damaging	Het
Tbc1d2	C	T	4: 46,637,746 (GRCm39)		probably null	Het
Tfap2b	G	A	1: 19,304,531 (GRCm39)	G447D	probably damaging	Het
Txndc2	A	G	17: 65,945,238 (GRCm39)	V313A	probably benign	Het
Uevld	A	T	7: 46,576,100 (GRCm39)	I462N	probably damaging	Het
Vmn2r120	T	C	17: 57,832,942 (GRCm39)	Y79C	probably damaging	Het
Vwa8	T	C	14: 79,275,587 (GRCm39)	V790A	probably benign	Het
Zfp936	A	G	7: 42,839,720 (GRCm39)	T396A	possibly 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
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
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'- AAGCTGGTATGTGCTAGAAGTG -3'
(R):5'- AGGTAAGGCTTGGCTTTCTC -3'

Sequencing Primer
(F):5'- CTGGTATGTGCTAGAAGTGATTTAAC -3'
(R):5'- GTAAGGCTTGGCTTTCTCTCCTG -3'

Posted On

2019-11-26