Mutagenetix > Incidental Mutation

Incidental Mutation 'R3826:Rrm2'

275423

Institutional Source

Beutler Lab

Gene Symbol

Rrm2

Ensembl Gene

ENSMUSG00000020649

Gene Name

ribonucleotide reductase M2

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24758253-24764145 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24758598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 47 (A47S)

Ref Sequence

ENSEMBL: ENSMUSP00000020980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020980] [ENSMUST00000153058] [ENSMUST00000154588]

AlphaFold

P11157

PDB Structure

SMALL SUBUNIT C-TERMINAL INHIBITORY PEPTIDE OF MOUSE RIBONUCLEOTIDE REDUCTASE AS BOUND TO THE LARGE SUBUNIT, NMR, 26 STRUCTURES [SOLUTION NMR]
COBALT SUBSTITUTION OF MOUSE R2 RIBONUCLEOTIDE REDUCTASE TO MODEL THE REACTIVE DIFERROUS STATE [X-RAY DIFFRACTION]
COBALT SUBSTITUTION OF MOUSE R2 RIBONUCLEOTIDE REDUCTASE TO MODEL THE REACTIVE DIFERROUS STATE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MOUSE RIBONUCLEOTIDE REDUCTASE SUBUNIT R2 UNDER OXIDIZING CONDITIONS. A FULLY OCCUPIED DINUCLEAR IRON CLUSTER. [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MOUSE RIBONUCLEOTIDE REDUCTASE SUBUNIT R2 UNDER REDUCING CONDITIONS. A FULLY OCCUPIED DINUCLEAR IRON CLUSTER AND BOUND ACETATE. [X-RAY DIFFRACTION]
PROTEIN R2 OF RIBONUCLEOTIDE REDUCTASE FROM MOUSE [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000020980
AA Change: A47S

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

SMART Domains

Protein: ENSMUSP00000020980
Gene: ENSMUSG00000020649
AA Change: A47S

Domain	Start	End	E-Value	Type
Pfam:Ribonuc_red_sm	80	347	1.6e-124	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147789

Predicted Effect

probably benign
Transcript: ENSMUST00000153058

SMART Domains

Protein: ENSMUSP00000120893
Gene: ENSMUSG00000020649

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Ribonuc_red_sm	40	225	2.6e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154588

SMART Domains

Protein: ENSMUSP00000119502
Gene: ENSMUSG00000020649

Domain	Start	End	E-Value	Type
Pfam:Ribonuc_red_sm	1	181	2.7e-88	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two non-identical subunits for ribonucleotide reductase. This reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. Synthesis of the encoded protein (M2) is regulated in a cell-cycle dependent fashion. Transcription from this gene can initiate from alternative promoters, which results in two isoforms that differ in the lengths of their N-termini. Related pseudogenes have been identified on chromosomes 1 and X. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	T	A	3: 59,843,896 (GRCm39)	S197T	possibly damaging	Het
Actl6b	T	C	5: 137,565,535 (GRCm39)	L377P	probably damaging	Het
Apc	C	A	18: 34,412,388 (GRCm39)	Q236K	possibly damaging	Het
Atn1	G	A	6: 124,723,182 (GRCm39)		probably benign	Het
Ccr3	A	G	9: 123,829,714 (GRCm39)	T350A	possibly damaging	Het
Cdc42bpg	T	C	19: 6,367,675 (GRCm39)	V1015A	probably damaging	Het
Chd2	A	G	7: 73,141,163 (GRCm39)	Y577H	possibly damaging	Het
Col1a2	A	G	6: 4,516,960 (GRCm39)		probably benign	Het
Col4a1	C	A	8: 11,259,650 (GRCm39)	G1341V	probably damaging	Het
Commd9	C	A	2: 101,727,486 (GRCm39)	N93K	probably benign	Het
Cplane2	C	T	4: 140,945,900 (GRCm39)	R148C	probably damaging	Het
Cx3cl1	A	T	8: 95,503,934 (GRCm39)		probably benign	Het
Dhx37	T	C	5: 125,508,677 (GRCm39)	K86R	probably benign	Het
Dlec1	T	C	9: 118,972,129 (GRCm39)		probably benign	Het
Dnah17	G	A	11: 117,931,984 (GRCm39)		probably benign	Het
Fam234a	T	C	17: 26,437,163 (GRCm39)	E172G	probably benign	Het
Ffar2	A	T	7: 30,519,510 (GRCm39)	I10N	possibly damaging	Het
Gas2	T	C	7: 51,586,367 (GRCm39)		probably null	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Grpel1	T	A	5: 36,626,827 (GRCm39)	N36K	probably benign	Het
Hgfac	C	A	5: 35,205,506 (GRCm39)	D595E	probably damaging	Het
Kcnj10	A	T	1: 172,197,616 (GRCm39)	S377C	probably damaging	Het
Kcnq2	C	T	2: 180,746,693 (GRCm39)	V369I	possibly damaging	Het
Kcnt1	T	C	2: 25,805,880 (GRCm39)		probably null	Het
Lpcat1	T	C	13: 73,637,212 (GRCm39)	I114T	possibly damaging	Het
Mast4	G	T	13: 102,875,319 (GRCm39)	H1350N	probably damaging	Het
Mcts1	T	C	X: 37,691,445 (GRCm39)		probably benign	Het
Muc21	A	G	17: 35,932,504 (GRCm39)		probably benign	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Ncor2	T	C	5: 125,195,756 (GRCm39)		probably benign	Het
Or1o4	T	A	17: 37,591,140 (GRCm39)	Y57F	probably damaging	Het
Or5t17	T	A	2: 86,832,388 (GRCm39)	I25K	probably damaging	Het
Or9g4b	C	T	2: 85,616,559 (GRCm39)	R235*	probably null	Het
Panx2	A	G	15: 88,952,664 (GRCm39)	D377G	probably damaging	Het
Pcdhb10	C	A	18: 37,545,470 (GRCm39)	T182N	probably damaging	Het
Pdha2	G	T	3: 140,916,889 (GRCm39)	F206L	possibly damaging	Het
Pgd	T	C	4: 149,250,461 (GRCm39)		probably benign	Het
Pgs1	C	T	11: 117,910,584 (GRCm39)		probably null	Het
Rere	T	C	4: 150,554,785 (GRCm39)	V161A	probably benign	Het
Rgs12	G	A	5: 35,123,359 (GRCm39)	V381M	possibly damaging	Het
Rsph6a	T	C	7: 18,791,539 (GRCm39)	L236P	probably damaging	Het
Rtkn2	A	T	10: 67,833,456 (GRCm39)		probably null	Het
Rubcnl	C	T	14: 75,269,665 (GRCm39)	L108F	possibly damaging	Het
Sap18b	T	C	8: 96,552,185 (GRCm39)	F65S	probably damaging	Het
Scap	A	G	9: 110,210,365 (GRCm39)	M925V	probably benign	Het
Slc7a8	A	G	14: 54,975,029 (GRCm39)	I200T	probably damaging	Het
Srrm3	A	G	5: 135,886,068 (GRCm39)	D336G	probably damaging	Het
Stk11	T	C	10: 79,963,782 (GRCm39)		probably null	Het
Tiam2	C	G	17: 3,557,976 (GRCm39)		probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Trio	T	A	15: 27,833,156 (GRCm39)	K75N	probably damaging	Het
Tspan18	T	C	2: 93,050,453 (GRCm39)	I57V	probably benign	Het
Ube3b	C	A	5: 114,538,012 (GRCm39)	Q368K	probably damaging	Het
Zfhx4	A	T	3: 5,466,269 (GRCm39)	K2142N	probably damaging	Het
Zfp37	T	C	4: 62,110,800 (GRCm39)	N88S	probably benign	Het
Zswim8	C	T	14: 20,761,157 (GRCm39)	R142*	probably null	Het

Other mutations in Rrm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02354:Rrm2	APN	12	24,761,438 (GRCm39)	splice site	probably benign
IGL02361:Rrm2	APN	12	24,761,438 (GRCm39)	splice site	probably benign
IGL02957:Rrm2	APN	12	24,758,440 (GRCm39)	missense	probably damaging	0.99
R1804:Rrm2	UTSW	12	24,758,611 (GRCm39)	missense	probably benign	0.42
R1854:Rrm2	UTSW	12	24,763,151 (GRCm39)	missense	probably damaging	1.00
R3827:Rrm2	UTSW	12	24,758,598 (GRCm39)	missense	probably benign
R3828:Rrm2	UTSW	12	24,758,598 (GRCm39)	missense	probably benign
R3830:Rrm2	UTSW	12	24,758,598 (GRCm39)	missense	probably benign
R3851:Rrm2	UTSW	12	24,758,598 (GRCm39)	missense	probably benign
R3938:Rrm2	UTSW	12	24,759,431 (GRCm39)	missense	probably damaging	1.00
R4042:Rrm2	UTSW	12	24,761,450 (GRCm39)	missense	probably benign	0.00
R4192:Rrm2	UTSW	12	24,758,377 (GRCm39)	missense	probably benign	0.04
R5274:Rrm2	UTSW	12	24,760,406 (GRCm39)	nonsense	probably null
R8375:Rrm2	UTSW	12	24,762,751 (GRCm39)	missense	probably damaging	1.00
R8410:Rrm2	UTSW	12	24,758,622 (GRCm39)	missense	probably benign
R8505:Rrm2	UTSW	12	24,759,384 (GRCm39)	missense	probably benign	0.37
R8815:Rrm2	UTSW	12	24,760,470 (GRCm39)	missense	possibly damaging	0.90
R9716:Rrm2	UTSW	12	24,760,446 (GRCm39)	missense	probably damaging	1.00
R9765:Rrm2	UTSW	12	24,758,956 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGGCTGACAAGGAGAACAC -3'
(R):5'- TCGTGTGCTTAGCTGTCACG -3'

Sequencing Primer
(F):5'- AACACGGTGAGGGCGGC -3'
(R):5'- GACCCGAGTAGGACATTCTG -3'

Posted On

2015-04-02