Mutagenetix > Incidental Mutation

Incidental Mutation 'R1710:Rrm2b'

190486

Institutional Source

Beutler Lab

Gene Symbol

Rrm2b

Ensembl Gene

ENSMUSG00000022292

Gene Name

ribonucleotide reductase M2 B (TP53 inducible)

Synonyms

p53R2

MMRRC Submission

039743-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.465) question?

Stock #

R1710 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37923952-37961318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37929096 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 70 (M70K)

Ref Sequence

ENSEMBL: ENSMUSP00000123691 (fasta)

Gene Model

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

AlphaFold

Q6PEE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000022901
AA Change: M282K

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

SMART Domains

Protein: ENSMUSP00000022901
Gene: ENSMUSG00000022292
AA Change: M282K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000137636
AA Change: M230K

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

SMART Domains

Protein: ENSMUSP00000119400
Gene: ENSMUSG00000022292
AA Change: M230K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144498

SMART Domains

Protein: ENSMUSP00000121069
Gene: ENSMUSG00000022292

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000146821
AA Change: M70K

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

SMART Domains

Protein: ENSMUSP00000123691
Gene: ENSMUSG00000022292
AA Change: M70K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153481

Meta Mutation Damage Score

0.9678

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (117/120)

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	A	T	18: 70,468,063	S249R	possibly damaging	Het
9130409I23Rik	A	G	1: 181,051,319	M1V	probably null	Het
Acadvl	T	A	11: 70,010,355	I638F	probably damaging	Het
Acnat2	T	A	4: 49,380,587	T264S	probably benign	Het
Acrv1	C	T	9: 36,694,255	Q33*	probably null	Het
Actrt3	T	A	3: 30,599,752	N33I	probably damaging	Het
Alyref2	T	C	1: 171,503,600		probably benign	Het
Ank2	C	A	3: 126,933,060	E3712*	probably null	Het
Ano7	C	A	1: 93,385,624	H161Q	probably benign	Het
Arhgap10	C	A	8: 77,358,587	E451*	probably null	Het
Arhgap29	T	A	3: 122,008,080	Y748N	probably damaging	Het
Arhgap45	C	T	10: 80,018,098	Q149*	probably null	Het
Asap2	C	T	12: 21,224,392	H371Y	probably damaging	Het
Atp6v1b1	T	C	6: 83,758,390	I480T	probably benign	Het
BC034090	T	C	1: 155,225,864	D218G	possibly damaging	Het
Brdt	A	T	5: 107,343,584	D74V	probably damaging	Het
C4b	A	G	17: 34,743,664		probably benign	Het
Card11	T	A	5: 140,902,905	K233*	probably null	Het
Catip	T	G	1: 74,362,770	F35V	possibly damaging	Het
Ccdc13	C	T	9: 121,819,581	G247R	probably damaging	Het
Cep97	T	A	16: 55,915,022	D471V	probably damaging	Het
Col17a1	A	T	19: 47,670,931	L403Q	probably damaging	Het
Crbn	A	G	6: 106,790,945	S194P	possibly damaging	Het
Dhx58	T	A	11: 100,703,574	H97L	probably benign	Het
Dnah8	T	C	17: 30,854,940	I4528T	probably damaging	Het
Dpyd	A	G	3: 118,610,443		probably null	Het
Entpd1	A	T	19: 40,726,236	Q263L	probably benign	Het
Esyt3	T	C	9: 99,336,191	I130M	probably benign	Het
Etv1	T	C	12: 38,852,262	F264S	probably benign	Het
Fam189a2	A	T	19: 23,979,695	I317N	probably damaging	Het
Fam196b	T	A	11: 34,404,263		probably null	Het
Fam45a	A	G	19: 60,817,583	Y102C	probably damaging	Het
Fat1	T	C	8: 45,010,482	S1354P	probably benign	Het
Fat4	C	A	3: 38,951,155	T1901N	probably damaging	Het
Fbxw13	C	T	9: 109,181,518	V351I	probably damaging	Het
Fmo3	A	G	1: 162,967,787	F160L	possibly damaging	Het
Fyb2	T	A	4: 105,003,916	D592E	probably damaging	Het
Gjb4	T	C	4: 127,351,870	M93V	possibly damaging	Het
Gm5089	C	A	14: 122,436,154	G52*	probably null	Het
Gm6401	G	T	14: 41,966,883	N76K	probably benign	Het
Gm6871	A	G	7: 41,546,477	S279P	probably damaging	Het
Gtf2ird2	T	G	5: 134,211,240	V301G	probably benign	Het
H2bfm	A	C	X: 136,927,467	D35A	unknown	Het
Hfm1	A	G	5: 106,880,514	F817L	probably damaging	Het
Hfm1	T	C	5: 106,896,003	E589G	probably damaging	Het
Hivep2	A	T	10: 14,129,505	K616*	probably null	Het
Hmcn1	A	T	1: 150,675,984	I2623N	probably damaging	Het
Igf2bp3	G	T	6: 49,105,631	A339E	probably damaging	Het
Irx4	T	C	13: 73,267,638	I182T	possibly damaging	Het
Jcad	T	C	18: 4,674,511	S758P	probably damaging	Het
Klhdc4	A	T	8: 121,799,487	Y304*	probably null	Het
Lama1	A	G	17: 67,753,791	I705V	probably benign	Het
Mbd5	A	G	2: 49,257,032	N418S	probably benign	Het
Mmp21	C	T	7: 133,677,285	V279I	probably damaging	Het
Morc4	A	C	X: 139,854,530	C272W	probably damaging	Het
Mrm1	A	T	11: 84,818,692	C180S	probably damaging	Het
Ncor1	T	C	11: 62,423,005	D103G	probably damaging	Het
Ndrg4	A	G	8: 95,710,686	D251G	probably damaging	Het
Ndufaf5	T	C	2: 140,193,602	V246A	possibly damaging	Het
Noa1	T	C	5: 77,309,725	E111G	possibly damaging	Het
Nod1	C	A	6: 54,944,059	V425F	probably damaging	Het
Nos1	A	T	5: 117,895,919	I369F	probably damaging	Het
Nsun5	C	T	5: 135,371,316	H98Y	probably damaging	Het
Olfr1013	C	T	2: 85,769,855	T18I	probably benign	Het
Olfr172	A	G	16: 58,761,141	F12L	probably benign	Het
Olfr292	G	A	7: 86,695,110	R218H	probably benign	Het
Olfr726	C	G	14: 50,084,370	V104L	probably benign	Het
Olfr933	A	G	9: 38,975,906	I77V	probably damaging	Het
Olfr945	T	C	9: 39,258,571	I37V	probably benign	Het
Optn	G	A	2: 5,053,130	T76I	possibly damaging	Het
Oscar	C	T	7: 3,611,856	W22*	probably null	Het
Palmd	T	A	3: 116,923,657	Y397F	probably damaging	Het
Plk1	A	G	7: 122,168,898	D447G	probably damaging	Het
Plscr5	T	A	9: 92,205,528	N183K	probably damaging	Het
Polk	T	G	13: 96,489,204	D364A	probably damaging	Het
Polr3d	T	C	14: 70,443,010	T36A	probably benign	Het
Ppp1r10	A	T	17: 35,926,536	R199S	probably damaging	Het
Prkcz	C	T	4: 155,262,512	D388N	probably damaging	Het
Prrc2b	T	C	2: 32,212,222	L769P	probably damaging	Het
Psg26	A	G	7: 18,480,041	V232A	probably damaging	Het
Pth2r	T	C	1: 65,336,838	V85A	possibly damaging	Het
Rbpms2	T	C	9: 65,659,212		probably benign	Het
Reps1	A	T	10: 18,118,950	D514V	possibly damaging	Het
Riok3	G	T	18: 12,142,961	R238L	probably benign	Het
Rnf19a	T	C	15: 36,244,207	Q569R	probably damaging	Het
Rorb	G	A	19: 18,960,501	T267I	probably damaging	Het
Rsf1	A	T	7: 97,662,349	E762V	possibly damaging	Het
S100a2	G	A	3: 90,591,392	V67I	probably benign	Het
Skp1a	T	A	11: 52,242,615	D42E	probably benign	Het
Slc22a4	A	T	11: 54,027,975	M1K	probably null	Het
Slc2a9	T	A	5: 38,382,044	Q371L	probably damaging	Het
Slc4a9	A	G	18: 36,532,022	T475A	probably benign	Het
Slc8b1	A	G	5: 120,519,652	N60S	probably damaging	Het
Slx4	A	C	16: 3,999,158	D66E	probably benign	Het
Smg8	A	T	11: 87,086,287	I156N	probably damaging	Het
Snx25	A	T	8: 46,116,207	C218S	possibly damaging	Het
Sulf2	T	C	2: 166,079,072	I784V	probably benign	Het
Tatdn2	G	T	6: 113,697,927	R72L	possibly damaging	Het
Tbc1d8	T	C	1: 39,406,837	D91G	possibly damaging	Het
Tifab	C	A	13: 56,176,620	R3S	probably benign	Het
Tm4sf1	A	T	3: 57,292,883	S104T	probably damaging	Het
Tmem132e	T	A	11: 82,443,517	I618N	probably damaging	Het
Ttc7b	A	T	12: 100,403,408	D367E	probably damaging	Het
Txlnb	A	G	10: 17,843,455	D678G	possibly damaging	Het
Vgll4	A	G	6: 114,957,934		probably null	Het
Vmn2r124	A	T	17: 18,061,925		probably benign	Het
Vmn2r2	T	C	3: 64,117,399	D587G	probably benign	Het
Vmn2r84	G	A	10: 130,391,099	A290V	probably benign	Het
Vps13c	T	A	9: 67,911,529	S1077R	probably benign	Het
Vsig10	C	T	5: 117,351,654	A495V	probably benign	Het
Vwa3a	A	T	7: 120,804,031		probably null	Het
Zfhx2	C	A	14: 55,065,998	A1510S	possibly damaging	Het
Zfp142	T	A	1: 74,572,230	D601V	probably damaging	Het
Zfp62	T	C	11: 49,217,683	I867T	probably benign	Het

Other mutations in Rrm2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00581:Rrm2b	APN	15	37929075	missense	probably damaging	1.00
IGL00806:Rrm2b	APN	15	37931622	missense	probably benign	0.02
IGL01145:Rrm2b	APN	15	37944560	missense	probably damaging	0.96
norfolk	UTSW	15	37937351	critical splice acceptor site	probably null
rememberance	UTSW	15	37946800	missense	possibly damaging	0.65
PIT4515001:Rrm2b	UTSW	15	37946804	missense	probably benign
R0026:Rrm2b	UTSW	15	37953741	missense	probably benign	0.19
R0044:Rrm2b	UTSW	15	37953688	missense	possibly damaging	0.83
R0044:Rrm2b	UTSW	15	37953688	missense	possibly damaging	0.83
R0624:Rrm2b	UTSW	15	37931645	missense	probably benign	0.00
R1371:Rrm2b	UTSW	15	37946809	missense	probably benign	0.06
R1635:Rrm2b	UTSW	15	37945084	missense	probably damaging	1.00
R1692:Rrm2b	UTSW	15	37927322	nonsense	probably null
R2273:Rrm2b	UTSW	15	37945051	missense	possibly damaging	0.92
R3196:Rrm2b	UTSW	15	37945147	splice site	probably null
R4459:Rrm2b	UTSW	15	37945153	splice site	probably null
R5310:Rrm2b	UTSW	15	37927327	missense	probably damaging	1.00
R5747:Rrm2b	UTSW	15	37927390	missense	probably benign
R7343:Rrm2b	UTSW	15	37944573	missense	probably benign	0.18
R7378:Rrm2b	UTSW	15	37931647	missense	probably benign
R7539:Rrm2b	UTSW	15	37937351	critical splice acceptor site	probably null
R7797:Rrm2b	UTSW	15	37927261	nonsense	probably null
R8077:Rrm2b	UTSW	15	37946800	missense	possibly damaging	0.65
R8856:Rrm2b	UTSW	15	37960614	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- tggcagactccaacaCTTTCAGTAAAAT -3'
(R):5'- TTCTGGCATACCTTGCCTTGAGTAAAAT -3'

Sequencing Primer
(F):5'- ttgaatgagaatagaccccagag -3'
(R):5'- gagttgggatggggaaaagg -3'

Posted On

2014-05-14