Mutagenetix > Incidental Mutation

Incidental Mutation 'R0026:Rrm2b'

64505

Institutional Source

Beutler Lab

Gene Symbol

Rrm2b

Ensembl Gene

ENSMUSG00000022292

Gene Name

ribonucleotide reductase M2 B (TP53 inducible)

Synonyms

p53R2

MMRRC Submission

038321-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.571) question?

Stock #

R0026 (G1)

Quality Score

120

Status

Validated

Chromosome

Chromosomal Location

37924196-37961562 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37953985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 21 (E21G)

Ref Sequence

ENSEMBL: ENSMUSP00000121188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022901] [ENSMUST00000137636] [ENSMUST00000144498] [ENSMUST00000145155] [ENSMUST00000145175] [ENSMUST00000146821] [ENSMUST00000153481]

AlphaFold

Q6PEE3

Predicted Effect

probably benign
Transcript: ENSMUST00000022901
AA Change: E21G

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

SMART Domains

Protein: ENSMUSP00000022901
Gene: ENSMUSG00000022292
AA Change: E21G

Domain	Start	End	E-Value	Type
Pfam:Ribonuc_red_sm	41	308	4.2e-120	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127362

Predicted Effect

probably benign
Transcript: ENSMUST00000137636

SMART Domains

Protein: ENSMUSP00000119400
Gene: ENSMUSG00000022292

Domain	Start	End	E-Value	Type
Pfam:Ribonuc_red_sm	6	261	1.7e-112	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144498
AA Change: E21G

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

SMART Domains

Protein: ENSMUSP00000121069
Gene: ENSMUSG00000022292
AA Change: E21G

Domain	Start	End	E-Value	Type
Pfam:Ribonuc_red_sm	32	111	2.2e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145155

Predicted Effect

probably benign
Transcript: ENSMUST00000145175
AA Change: E7G

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

SMART Domains

Protein: ENSMUSP00000114343
Gene: ENSMUSG00000022292
AA Change: E7G

Domain	Start	End	E-Value	Type
Pfam:Ribonuc_red_sm	18	99	1.5e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146821

SMART Domains

Protein: ENSMUSP00000123691
Gene: ENSMUSG00000022292

Domain	Start	End	E-Value	Type
Pfam:Ribonuc_red_sm	13	101	1e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153481
AA Change: E21G

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.8%
20x: 96.3%

Validation Efficiency

93% (70/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
PHENOTYPE: Loss of both functional copies of this gene results in growth retardation, multiple organ failure, and ultimately premature death due to kidney failure. Spontaneous mutation rates and apoptosis are increased in the kidneys due to an attenuation of dNTP pools and a resulting impairment of DNA repair. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,772,566 (GRCm39)	I585N	possibly damaging	Het
A830005F24Rik	C	T	13: 48,667,848 (GRCm39)		probably benign	Het
Abca16	C	T	7: 120,077,146 (GRCm39)		probably benign	Het
Acot10	G	A	15: 20,666,322 (GRCm39)	L140F	probably benign	Het
Adam19	G	T	11: 46,027,086 (GRCm39)	C573F	probably damaging	Het
Aff3	A	G	1: 38,242,974 (GRCm39)	S948P	probably benign	Het
Anxa3	T	A	5: 96,986,260 (GRCm39)	Y300N	probably benign	Het
BC016579	T	C	16: 45,460,730 (GRCm39)	T113A	probably benign	Het
Bmpr1b	A	G	3: 141,576,494 (GRCm39)	L113P	probably benign	Het
Casq1	T	C	1: 172,046,967 (GRCm39)		probably benign	Het
Cdc16	T	A	8: 13,809,130 (GRCm39)		probably null	Het
Cep135	C	T	5: 76,754,581 (GRCm39)	R353*	probably null	Het
Cma1	A	T	14: 56,179,621 (GRCm39)	C188S	probably damaging	Het
Csf3r	A	G	4: 125,925,677 (GRCm39)	T151A	probably benign	Het
Cyp4b1	C	T	4: 115,504,718 (GRCm39)	G56D	possibly damaging	Het
Dbn1	T	C	13: 55,625,597 (GRCm39)	E275G	probably damaging	Het
Dlgap2	C	T	8: 14,777,363 (GRCm39)	Q203*	probably null	Het
Ephb3	A	G	16: 21,033,667 (GRCm39)	D251G	probably damaging	Het
Fancd2os	G	T	6: 113,574,652 (GRCm39)	T118N	probably damaging	Het
Gm10801	T	C	2: 98,494,254 (GRCm39)		probably benign	Het
Got1l1	C	T	8: 27,690,276 (GRCm39)	V132I	probably benign	Het
H2-M9	T	C	17: 36,952,419 (GRCm39)		probably benign	Het
Ibtk	A	G	9: 85,572,356 (GRCm39)	V1278A	probably benign	Het
Kctd3	T	C	1: 188,708,818 (GRCm39)	T519A	probably damaging	Het
Lgsn	T	A	1: 31,242,524 (GRCm39)	V202D	probably damaging	Het
Madd	A	G	2: 91,006,053 (GRCm39)	F381L	possibly damaging	Het
Map1s	G	A	8: 71,367,282 (GRCm39)	G729D	probably damaging	Het
Mlycd	A	G	8: 120,137,174 (GRCm39)	I465V	probably benign	Het
Mrgprb1	T	C	7: 48,096,952 (GRCm39)	R108G	possibly damaging	Het
Mrgprx2	T	A	7: 48,131,771 (GRCm39)	H106L	possibly damaging	Het
Ncor1	T	C	11: 62,329,255 (GRCm39)	Y6C	probably damaging	Het
Nfkb1	T	C	3: 135,297,334 (GRCm39)	D773G	probably damaging	Het
Nxnl1	A	G	8: 72,019,217 (GRCm39)	S3P	probably damaging	Het
Or12d17	T	A	17: 37,777,694 (GRCm39)	V199D	probably damaging	Het
Or8b54	G	A	9: 38,686,892 (GRCm39)	V114I	probably benign	Het
Otud7a	T	C	7: 63,385,549 (GRCm39)	F338L	probably benign	Het
Pdcl3	T	A	1: 39,030,361 (GRCm39)	L14Q	probably damaging	Het
Pla2g7	T	A	17: 43,905,821 (GRCm39)		probably benign	Het
Prpf31	T	A	7: 3,642,667 (GRCm39)	N413K	probably benign	Het
Rapgef5	T	C	12: 117,652,896 (GRCm39)	S307P	probably benign	Het
Relt	C	A	7: 100,499,428 (GRCm39)	E164*	probably null	Het
Rnf185	T	C	11: 3,376,617 (GRCm39)	D86G	probably damaging	Het
Scn5a	A	G	9: 119,351,632 (GRCm39)	I783T	probably damaging	Het
Senp1	T	C	15: 97,974,549 (GRCm39)	R88G	probably damaging	Het
Skint5	A	T	4: 113,403,665 (GRCm39)		probably benign	Het
Slc35b1	T	C	11: 95,281,468 (GRCm39)	S294P	probably benign	Het
Slc5a2	T	A	7: 127,869,225 (GRCm39)	I335N	probably damaging	Het
Spata31e2	T	A	1: 26,722,450 (GRCm39)	D910V	probably benign	Het
Sstr1	T	A	12: 58,259,644 (GRCm39)	M89K	probably damaging	Het
Szt2	A	T	4: 118,241,969 (GRCm39)	S1612R	possibly damaging	Het
Taf1c	T	C	8: 120,330,975 (GRCm39)		probably null	Het
Taf1d	T	A	9: 15,219,944 (GRCm39)	S64R	probably damaging	Het
Tmem125	A	G	4: 118,399,270 (GRCm39)	S54P	possibly damaging	Het
Ttf1	T	A	2: 28,961,361 (GRCm39)	I583N	possibly damaging	Het
Uchl4	A	T	9: 64,142,653 (GRCm39)		probably null	Het
Unc5b	A	T	10: 60,610,371 (GRCm39)	I482N	possibly damaging	Het
Unc80	C	A	1: 66,560,743 (GRCm39)	Q824K	probably benign	Het
Utrn	T	C	10: 12,601,940 (GRCm39)		probably benign	Het
Vmn2r61	T	G	7: 41,924,898 (GRCm39)	I484R	possibly damaging	Het
Vps13b	T	C	15: 35,923,447 (GRCm39)	I3774T	possibly damaging	Het
Yipf1	T	A	4: 107,202,357 (GRCm39)	L240*	probably null	Het

Other mutations in Rrm2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00581:Rrm2b	APN	15	37,929,319 (GRCm39)	missense	probably damaging	1.00
IGL00806:Rrm2b	APN	15	37,931,866 (GRCm39)	missense	probably benign	0.02
IGL01145:Rrm2b	APN	15	37,944,804 (GRCm39)	missense	probably damaging	0.96
norfolk	UTSW	15	37,937,595 (GRCm39)	critical splice acceptor site	probably null
rememberance	UTSW	15	37,947,044 (GRCm39)	missense	possibly damaging	0.65
PIT4515001:Rrm2b	UTSW	15	37,947,048 (GRCm39)	missense	probably benign
R0044:Rrm2b	UTSW	15	37,953,932 (GRCm39)	missense	possibly damaging	0.83
R0044:Rrm2b	UTSW	15	37,953,932 (GRCm39)	missense	possibly damaging	0.83
R0624:Rrm2b	UTSW	15	37,931,889 (GRCm39)	missense	probably benign	0.00
R1371:Rrm2b	UTSW	15	37,947,053 (GRCm39)	missense	probably benign	0.06
R1635:Rrm2b	UTSW	15	37,945,328 (GRCm39)	missense	probably damaging	1.00
R1692:Rrm2b	UTSW	15	37,927,566 (GRCm39)	nonsense	probably null
R1710:Rrm2b	UTSW	15	37,929,340 (GRCm39)	missense	probably damaging	1.00
R2273:Rrm2b	UTSW	15	37,945,295 (GRCm39)	missense	possibly damaging	0.92
R3196:Rrm2b	UTSW	15	37,945,391 (GRCm39)	splice site	probably null
R4459:Rrm2b	UTSW	15	37,945,397 (GRCm39)	splice site	probably null
R5310:Rrm2b	UTSW	15	37,927,571 (GRCm39)	missense	probably damaging	1.00
R5747:Rrm2b	UTSW	15	37,927,634 (GRCm39)	missense	probably benign
R7343:Rrm2b	UTSW	15	37,944,817 (GRCm39)	missense	probably benign	0.18
R7378:Rrm2b	UTSW	15	37,931,891 (GRCm39)	missense	probably benign
R7539:Rrm2b	UTSW	15	37,937,595 (GRCm39)	critical splice acceptor site	probably null
R7797:Rrm2b	UTSW	15	37,927,505 (GRCm39)	nonsense	probably null
R8077:Rrm2b	UTSW	15	37,947,044 (GRCm39)	missense	possibly damaging	0.65
R8856:Rrm2b	UTSW	15	37,960,858 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- ACATACCTCCTCTGCTGTCCAGAAAG -3'
(R):5'- TGGAAGGGACATTTCGTTCACAGAC -3'

Sequencing Primer
(F):5'- TCTGCTGTCCAGAAAGATGCC -3'
(R):5'- gtaagtatatccgaagaaagcgag -3'

Posted On

2013-08-06