Mutagenetix > Incidental Mutation

Incidental Mutation 'R0415:Polr2k'

40279

Institutional Source

Beutler Lab

Gene Symbol

Polr2k

Ensembl Gene

ENSMUSG00000045996

Gene Name

polymerase (RNA) II (DNA directed) polypeptide K

Synonyms

RPB12, RPB7.0, ABC10-alpha, MafY, RPB10alpha, Mt1a, RPABC4

MMRRC Submission

038617-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.470) question?

Stock #

R0415 (G1)

Quality Score

155

Status

Validated

Chromosome

Chromosomal Location

36174010-36177010 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36175456 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 45 (Y45C)

Ref Sequence

ENSEMBL: ENSMUSP00000136975 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047348] [ENSMUST00000057177] [ENSMUST00000171205] [ENSMUST00000180159] [ENSMUST00000227623]

AlphaFold

Q63871

Predicted Effect

probably benign
Transcript: ENSMUST00000047348

SMART Domains

Protein: ENSMUSP00000047335
Gene: ENSMUSG00000037617

Domain	Start	End	E-Value	Type
TPR	213	246	1.88e0	SMART
TPR	247	279	3.47e-4	SMART
TPR	280	313	8.23e-6	SMART
low complexity region	383	400	N/A	INTRINSIC
TPR	430	463	5.92e1	SMART
TPR	472	505	2.49e-5	SMART
TPR	506	539	5.31e0	SMART
TPR	606	639	7.63e-1	SMART
TPR	640	673	1.38e-7	SMART
Pfam:RPAP3_C	777	869	1.7e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000057177
AA Change: Y86C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051968
Gene: ENSMUSG00000045996
AA Change: Y86C

Domain	Start	End	E-Value	Type
RPOLCX	56	99	6.19e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171205

SMART Domains

Protein: ENSMUSP00000132233
Gene: ENSMUSG00000037617

Domain	Start	End	E-Value	Type
TPR	213	246	1.88e0	SMART
TPR	247	279	3.47e-4	SMART
TPR	280	313	8.23e-6	SMART
low complexity region	383	400	N/A	INTRINSIC
TPR	430	463	5.92e1	SMART
TPR	472	505	2.49e-5	SMART
TPR	506	539	5.31e0	SMART
TPR	606	639	7.63e-1	SMART
TPR	640	673	1.38e-7	SMART
Pfam:RPAP3_C	777	869	1.7e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000180159
AA Change: Y45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136975
Gene: ENSMUSG00000045996
AA Change: Y45C

Domain	Start	End	E-Value	Type
RPOLCX	15	58	6.19e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000227623

Meta Mutation Damage Score

0.8538

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (99/102)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the smallest subunits of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427G23Rik	A	T	5: 23,831,050 (GRCm38)		noncoding transcript	Het
Acox2	A	G	14: 8,243,835 (GRCm38)		probably benign	Het
Adgb	T	C	10: 10,431,067 (GRCm38)		probably null	Het
Adgra3	C	A	5: 49,961,757 (GRCm38)		probably benign	Het
Adgre4	G	A	17: 55,852,288 (GRCm38)	V658I	probably benign	Het
Ahnak	A	G	19: 9,012,871 (GRCm38)		probably benign	Het
Anapc2	A	G	2: 25,278,325 (GRCm38)	T159A	probably damaging	Het
Arfgef3	A	G	10: 18,613,127 (GRCm38)		probably benign	Het
Atf7ip	C	T	6: 136,560,012 (GRCm38)	S81L	possibly damaging	Het
Cacna1i	A	G	15: 80,368,830 (GRCm38)		probably benign	Het
Camk1	A	T	6: 113,341,891 (GRCm38)	Y20*	probably null	Het
Ccdc40	T	C	11: 119,232,118 (GRCm38)	Y249H	possibly damaging	Het
Cd109	T	A	9: 78,712,615 (GRCm38)	S1380T	probably benign	Het
Cfap57	A	T	4: 118,569,431 (GRCm38)	L1107Q	possibly damaging	Het
Col6a4	C	T	9: 106,075,080 (GRCm38)	V540I	probably damaging	Het
Cst9	T	A	2: 148,838,442 (GRCm38)		probably benign	Het
Cul5	C	T	9: 53,667,070 (GRCm38)	V73I	probably benign	Het
Cxcl16	T	A	11: 70,458,748 (GRCm38)	K84*	probably null	Het
Cyp2c29	T	C	19: 39,329,095 (GRCm38)		probably benign	Het
D6Ertd527e	C	G	6: 87,111,524 (GRCm38)	T223S	unknown	Het
Dip2c	C	T	13: 9,568,289 (GRCm38)		probably benign	Het
Dis3	A	T	14: 99,087,456 (GRCm38)	I513N	probably damaging	Het
Dnajc16	A	T	4: 141,789,048 (GRCm38)	L3*	probably null	Het
Dop1a	T	A	9: 86,506,502 (GRCm38)	L480M	probably damaging	Het
Eml6	A	G	11: 29,749,392 (GRCm38)	V1787A	possibly damaging	Het
Etnk1	A	G	6: 143,180,774 (GRCm38)	N115S	probably damaging	Het
Fryl	T	C	5: 73,098,414 (GRCm38)	Y758C	probably damaging	Het
Gbp4	G	A	5: 105,121,106 (GRCm38)	R394C	possibly damaging	Het
Ggnbp2	A	C	11: 84,833,225 (GRCm38)		probably benign	Het
Gm7137	A	G	10: 77,788,173 (GRCm38)		probably benign	Het
Gstm2	T	A	3: 107,984,006 (GRCm38)	Q132L	probably benign	Het
Habp2	T	C	19: 56,317,717 (GRCm38)		probably benign	Het
Hectd2	T	C	19: 36,584,884 (GRCm38)		probably benign	Het
Htr6	A	G	4: 139,062,081 (GRCm38)	I291T	possibly damaging	Het
Ighg2c	T	C	12: 113,287,910 (GRCm38)	D199G	unknown	Het
Itih2	A	G	2: 10,105,615 (GRCm38)		probably benign	Het
Kcnab2	A	G	4: 152,395,136 (GRCm38)	F248S	probably benign	Het
Kcnc4	T	C	3: 107,445,433 (GRCm38)	K610E	probably damaging	Het
Kcnk16	T	A	14: 20,262,975 (GRCm38)		probably null	Het
Kndc1	C	T	7: 139,930,124 (GRCm38)	T1293I	probably damaging	Het
Lcp1	A	T	14: 75,227,006 (GRCm38)	I556F	possibly damaging	Het
Lrrc8d	T	C	5: 105,811,865 (GRCm38)	L47P	probably damaging	Het
Lyset	T	A	12: 102,744,876 (GRCm38)	Y119*	probably null	Het
Lyst	T	C	13: 13,711,610 (GRCm38)		probably benign	Het
Macrod2	G	A	2: 142,210,145 (GRCm38)		probably null	Het
Micalcl	C	T	7: 112,381,028 (GRCm38)	R70C	probably damaging	Het
Mllt3	ACTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCT	4: 87,841,339 (GRCm38)		probably benign	Het
Msh3	A	G	13: 92,346,786 (GRCm38)	V283A	possibly damaging	Het
Nup205	T	C	6: 35,214,634 (GRCm38)		probably benign	Het
Nxpe2	T	C	9: 48,326,614 (GRCm38)	T114A	probably damaging	Het
Or51e2	C	T	7: 102,742,087 (GRCm38)	M305I	probably benign	Het
Or5m10	A	T	2: 85,887,438 (GRCm38)	I213F	possibly damaging	Het
Or5m9	A	T	2: 86,047,055 (GRCm38)	H191L	probably benign	Het
Or8c15	A	T	9: 38,209,973 (GRCm38)	M305L	probably benign	Het
Or8g2	A	G	9: 39,909,983 (GRCm38)	Y60C	probably damaging	Het
Pard3	G	A	8: 127,610,566 (GRCm38)	G1221D	probably damaging	Het
Pax5	G	A	4: 44,691,886 (GRCm38)	A120V	probably damaging	Het
Pcsk6	C	T	7: 66,033,874 (GRCm38)	R746C	probably damaging	Het
Pif1	G	A	9: 65,588,051 (GRCm38)	C81Y	probably benign	Het
Plcb1	A	G	2: 135,337,499 (GRCm38)	Y609C	probably damaging	Het
Plcd4	C	A	1: 74,552,097 (GRCm38)	S217Y	probably damaging	Het
Plxna1	G	A	6: 89,357,336 (GRCm38)	H104Y	probably benign	Het
Prex1	A	G	2: 166,586,699 (GRCm38)		probably benign	Het
Pth2r	A	G	1: 65,388,439 (GRCm38)	M424V	probably benign	Het
Pygm	A	G	19: 6,391,366 (GRCm38)	R464G	probably benign	Het
Rad51c	A	G	11: 87,397,655 (GRCm38)	L234P	probably damaging	Het
Rnf145	A	G	11: 44,525,138 (GRCm38)	Y60C	probably damaging	Het
Rnf167	T	C	11: 70,649,699 (GRCm38)	I135T	probably damaging	Het
Rnf213	A	T	11: 119,414,469 (GRCm38)	I509F	probably damaging	Het
Ro60	G	T	1: 143,760,075 (GRCm38)	N444K	probably benign	Het
Ryr2	T	C	13: 11,869,156 (GRCm38)	S213G	probably damaging	Het
Selenbp1	T	C	3: 94,936,913 (GRCm38)	V27A	possibly damaging	Het
Selenof	T	G	3: 144,577,692 (GRCm38)	L14R	probably damaging	Het
Sfswap	A	T	5: 129,504,126 (GRCm38)	D121V	probably damaging	Het
Slc25a34	C	A	4: 141,620,469 (GRCm38)	M300I	possibly damaging	Het
Slc34a3	T	G	2: 25,229,110 (GRCm38)	T583P	probably benign	Het
Slc66a3	C	A	12: 16,997,710 (GRCm38)		probably benign	Het
Smg1	C	A	7: 118,182,468 (GRCm38)	A1199S	probably benign	Het
Spint1	A	G	2: 119,245,615 (GRCm38)	T231A	probably damaging	Het
Sptbn1	A	C	11: 30,149,576 (GRCm38)	N229K	probably damaging	Het
Sult2b1	A	G	7: 45,730,092 (GRCm38)		probably benign	Het
Tas2r123	A	T	6: 132,847,838 (GRCm38)	M233L	probably damaging	Het
Tbcel	C	A	9: 42,444,500 (GRCm38)	C139F	probably benign	Het
Thbs2	A	C	17: 14,679,973 (GRCm38)	S573A	probably benign	Het
Tmem132c	A	G	5: 127,563,705 (GRCm38)	E980G	probably damaging	Het
Tmem247	G	T	17: 86,922,322 (GRCm38)	C197F	probably damaging	Het
Tmem43	C	A	6: 91,482,318 (GRCm38)	P257Q	probably benign	Het
Tmprss13	A	G	9: 45,337,132 (GRCm38)		probably null	Het
Ubr5	T	C	15: 37,972,980 (GRCm38)	T2626A	probably damaging	Het
Vmn1r196	T	A	13: 22,293,836 (GRCm38)	V215D	probably damaging	Het
Vmn1r22	G	T	6: 57,900,332 (GRCm38)	T220K	probably benign	Het
Vmn2r116	G	A	17: 23,387,279 (GRCm38)	M388I	possibly damaging	Het
Vmn2r74	A	C	7: 85,961,410 (GRCm38)	C25G	probably damaging	Het
Xndc1	T	C	7: 102,080,616 (GRCm38)		probably benign	Het
Zfp282	A	G	6: 47,897,881 (GRCm38)	D340G	probably damaging	Het
Zfp282	T	A	6: 47,905,053 (GRCm38)	I558N	possibly damaging	Het
Zfp316	T	A	5: 143,264,491 (GRCm38)	T56S	unknown	Het
Zfp345	A	G	2: 150,474,559 (GRCm38)		probably benign	Het

Other mutations in Polr2k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03128:Polr2k	APN	15	36,174,191 (GRCm38)	missense	probably damaging	0.98
R3794:Polr2k	UTSW	15	36,175,047 (GRCm38)	missense	probably damaging	0.97
R3795:Polr2k	UTSW	15	36,175,047 (GRCm38)	missense	probably damaging	0.97
R5213:Polr2k	UTSW	15	36,174,997 (GRCm38)	start codon destroyed	probably null	0.82
R6986:Polr2k	UTSW	15	36,175,035 (GRCm38)	missense	probably benign	0.20
R8733:Polr2k	UTSW	15	36,176,767 (GRCm38)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GATGTTCAACCACCAAAGCAGCAG -3'
(R):5'- GGAGTCTCCACTCTCTCAGCTCTCA -3'

Sequencing Primer
(F):5'- TCTGGAAAAGGTGTACTGCCTAC -3'
(R):5'- ctctcagctctcattCTTAATAAGTC -3'

Posted On

2013-05-23