Mutagenetix > Incidental Mutation

Incidental Mutation 'R6042:Polr2m'

483619

Institutional Source

Beutler Lab

Gene Symbol

Polr2m

Ensembl Gene

ENSMUSG00000032199

Gene Name

polymerase (RNA) II (DNA directed) polypeptide M

Synonyms

D9Wsu138e, Grinl1a

MMRRC Submission

044210-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R6042 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71385719-71393217 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71391080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 41 (I41V)

Ref Sequence

ENSEMBL: ENSMUSP00000034720 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034720] [ENSMUST00000163972] [ENSMUST00000163998] [ENSMUST00000164962] [ENSMUST00000165936] [ENSMUST00000166843] [ENSMUST00000169804]

AlphaFold

Q6P6I6

Predicted Effect

probably damaging
Transcript: ENSMUST00000034720
AA Change: I41V

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034720
Gene: ENSMUSG00000032199
AA Change: I41V

Domain	Start	End	E-Value	Type
Pfam:GCOM2	28	239	2.1e-79	PFAM
coiled coil region	299	328	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163972

SMART Domains

Protein: ENSMUSP00000132335
Gene: ENSMUSG00000032199

Domain	Start	End	E-Value	Type
Pfam:GCOM2	1	142	1.6e-27	PFAM
coiled coil region	195	224	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163998

SMART Domains

Protein: ENSMUSP00000131267
Gene: ENSMUSG00000092137

Domain	Start	End	E-Value	Type
coiled coil region	105	138	N/A	INTRINSIC
coiled coil region	187	415	N/A	INTRINSIC
coiled coil region	483	512	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164962

SMART Domains

Protein: ENSMUSP00000131353
Gene: ENSMUSG00000092137

Domain	Start	End	E-Value	Type
Pfam:GCOM2	96	390	7.5e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165936

SMART Domains

Protein: ENSMUSP00000127356
Gene: ENSMUSG00000092137

Domain	Start	End	E-Value	Type
Pfam:GCOM2	96	379	4.2e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166843

SMART Domains

Protein: ENSMUSP00000128698
Gene: ENSMUSG00000092137

Domain	Start	End	E-Value	Type
Pfam:GCOM2	96	416	4.6e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169804

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a specific form of RNA polymerase II termed Pol II(G). The encoded protein may act as a negative regulator of transcriptional activation by the Mediator complex. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 4. Readthrough transcription between this gene and the neighboring upstream gene MYZAP (myocardial zonula adherens protein) is represented with GeneID 145781. [provided by RefSeq, Oct 2013]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,224,023 (GRCm39)	K478M	probably benign	Het
Ankar	G	T	1: 72,713,213 (GRCm39)	S474*	probably null	Het
Barx2	C	A	9: 31,758,199 (GRCm39)	E246D	probably benign	Het
Cdh20	A	T	1: 110,065,997 (GRCm39)	Q757L	probably damaging	Het
Cnr1	T	C	4: 33,944,751 (GRCm39)	F380L	probably damaging	Het
Cntnap5b	G	A	1: 100,318,317 (GRCm39)	A655T	probably benign	Het
Col2a1	T	A	15: 97,898,451 (GRCm39)		probably benign	Het
Crybg3	C	T	16: 59,370,838 (GRCm39)	R2340Q	possibly damaging	Het
Ctsb	G	T	14: 63,379,305 (GRCm39)	D306Y	probably damaging	Het
Cyp2a22	A	C	7: 26,633,664 (GRCm39)	Y349D	probably damaging	Het
Dcpp2	T	C	17: 24,117,886 (GRCm39)	L22S	probably damaging	Het
Dnah8	G	T	17: 30,966,239 (GRCm39)	M2476I	probably damaging	Het
Dst	A	G	1: 34,228,053 (GRCm39)	E1882G	probably damaging	Het
Esrp1	T	C	4: 11,357,580 (GRCm39)	K511E	possibly damaging	Het
Fat3	T	A	9: 16,289,113 (GRCm39)	T137S	probably benign	Het
Fbxw24	T	A	9: 109,436,079 (GRCm39)	M318L	probably benign	Het
Fpr-rs7	T	A	17: 20,333,477 (GRCm39)	T338S	probably benign	Het
Gcgr	T	C	11: 120,425,584 (GRCm39)	M1T	probably null	Het
Grifin	C	A	5: 140,549,311 (GRCm39)	R135L	possibly damaging	Het
Helz	T	C	11: 107,504,946 (GRCm39)		probably null	Het
Hivep3	C	G	4: 119,955,061 (GRCm39)	Q1126E	possibly damaging	Het
Htr3a	T	A	9: 48,815,999 (GRCm39)	H146L	probably damaging	Het
Lama3	T	A	18: 12,707,311 (GRCm39)	V3081E	probably damaging	Het
Mgat5	T	A	1: 127,387,636 (GRCm39)	C531S	probably damaging	Het
Mical2	A	G	7: 111,979,619 (GRCm39)	D106G	probably benign	Het
Nectin2	C	T	7: 19,472,063 (GRCm39)	A109T	probably benign	Het
Olig3	T	C	10: 19,232,503 (GRCm39)	S43P	probably damaging	Het
Or5an9	A	T	19: 12,187,286 (GRCm39)	M119L	probably damaging	Het
Or8b39	T	A	9: 37,996,390 (GRCm39)	V86E	probably damaging	Het
Pcdh12	T	C	18: 38,414,558 (GRCm39)	R856G	probably damaging	Het
Phpt1	T	A	2: 25,464,851 (GRCm39)	M1L	probably benign	Het
Pramel28	G	T	4: 143,692,631 (GRCm39)	D123E	probably benign	Het
Pzp	A	G	6: 128,500,977 (GRCm39)	V127A	possibly damaging	Het
Rgs7	G	T	1: 174,977,226 (GRCm39)	T126K	probably damaging	Het
RP23-399J5.1	T	C	8: 71,542,571 (GRCm39)		noncoding transcript	Het
Rras	A	T	7: 44,669,820 (GRCm39)	D112V	probably damaging	Het
Sdcbp2	T	A	2: 151,424,646 (GRCm39)	Y5*	probably null	Het
Slc43a2	T	C	11: 75,461,433 (GRCm39)	F462L	probably damaging	Het
Smchd1	T	A	17: 71,684,052 (GRCm39)	K1436*	probably null	Het
Snrnp27	A	C	6: 86,659,902 (GRCm39)	S31A	unknown	Het
Sqstm1	A	C	11: 50,098,251 (GRCm39)	F172V	probably benign	Het
Stk32b	T	A	5: 37,806,458 (GRCm39)	I29F	probably damaging	Het
Syt10	G	A	15: 89,725,824 (GRCm39)	T50I	probably benign	Het
Syt16	T	C	12: 74,313,504 (GRCm39)	Y477H	probably damaging	Het
Tacr3	A	T	3: 134,638,153 (GRCm39)	T437S	probably benign	Het
Tg	G	A	15: 66,555,842 (GRCm39)	D845N	probably benign	Het
Uqcc1	G	T	2: 155,763,564 (GRCm39)	S36R	possibly damaging	Het
Vmn1r20	T	C	6: 57,409,391 (GRCm39)	V239A	possibly damaging	Het
Xpo7	T	A	14: 70,933,103 (GRCm39)	Q263L	possibly damaging	Het
Zfp442	T	C	2: 150,250,016 (GRCm39)	K572E	probably damaging	Het
Zswim5	A	C	4: 116,819,818 (GRCm39)	S408R	probably benign	Het

Other mutations in Polr2m

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02810:Polr2m	APN	9	71,390,848 (GRCm39)	missense	probably benign	0.42
IGL02956:Polr2m	APN	9	71,390,911 (GRCm39)	missense	possibly damaging	0.88
R1604:Polr2m	UTSW	9	71,390,959 (GRCm39)	missense	probably damaging	1.00
R4828:Polr2m	UTSW	9	71,391,050 (GRCm39)	missense	possibly damaging	0.65
R5748:Polr2m	UTSW	9	71,390,918 (GRCm39)	missense	probably benign	0.02
R5990:Polr2m	UTSW	9	71,386,602 (GRCm39)	splice site	probably null
R6476:Polr2m	UTSW	9	71,390,752 (GRCm39)	missense	probably benign	0.02
R6579:Polr2m	UTSW	9	71,393,002 (GRCm39)	missense	probably damaging	1.00
R7150:Polr2m	UTSW	9	71,390,815 (GRCm39)	missense	probably benign	0.00
R7150:Polr2m	UTSW	9	71,390,626 (GRCm39)	missense	probably damaging	1.00
R7631:Polr2m	UTSW	9	71,390,757 (GRCm39)	nonsense	probably null
R8203:Polr2m	UTSW	9	71,386,768 (GRCm39)	missense	probably benign	0.07
R8233:Polr2m	UTSW	9	71,390,866 (GRCm39)	missense	probably benign
R9571:Polr2m	UTSW	9	71,386,710 (GRCm39)	missense	possibly damaging	0.93
X0067:Polr2m	UTSW	9	71,386,742 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCTGGGCCTTGTCTACATCG -3'
(R):5'- ATTCAGAGCACTCCCTTGGG -3'

Sequencing Primer
(F):5'- ACATCGGTGTCAGCTCTTG -3'
(R):5'- GGGAGGGGTTAGAATAATTTTACG -3'

Posted On

2017-07-14