Mutagenetix > Incidental Mutation

Incidental Mutation 'R1635:Rrm2b'

173112

Institutional Source

Beutler Lab

Gene Symbol

Rrm2b

Ensembl Gene

ENSMUSG00000022292

Gene Name

ribonucleotide reductase M2 B (TP53 inducible)

Synonyms

p53R2

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.571) question?

Stock #

R1635 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37924196-37961562 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37945328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 137 (M137K)

Ref Sequence

ENSEMBL: ENSMUSP00000022901 (fasta)

Gene Model

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

AlphaFold

Q6PEE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000022901
AA Change: M137K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022901
Gene: ENSMUSG00000022292
AA Change: M137K

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 damaging
Transcript: ENSMUST00000137636
AA Change: M85K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119400
Gene: ENSMUSG00000022292
AA Change: M85K

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 benign
Transcript: ENSMUST00000145155

Predicted Effect

probably benign
Transcript: ENSMUST00000145175

SMART Domains

Protein: ENSMUSP00000114343
Gene: ENSMUSG00000022292

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

noncoding transcript
Transcript: ENSMUST00000148102

Predicted Effect

probably benign
Transcript: ENSMUST00000153481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227688

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.9%

Validation Efficiency

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	T	2: 25,334,868 (GRCm39)	I1947F	probably benign	Het
Adgrd1	G	T	5: 129,205,971 (GRCm39)	V182F	probably damaging	Het
Agmat	A	G	4: 141,474,380 (GRCm39)	D87G	probably damaging	Het
AI182371	T	C	2: 34,978,749 (GRCm39)		probably null	Het
Anapc1	G	T	2: 128,470,452 (GRCm39)	H1559Q	probably damaging	Het
Ankar	T	C	1: 72,689,297 (GRCm39)	Y1278C	probably damaging	Het
Arhgef2	A	T	3: 88,546,628 (GRCm39)		probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Banp	A	T	8: 122,727,750 (GRCm39)	I130F	probably damaging	Het
C130050O18Rik	G	T	5: 139,400,248 (GRCm39)	R100S	probably benign	Het
Carmil3	A	G	14: 55,733,739 (GRCm39)	T374A	possibly damaging	Het
Cc2d2a	T	A	5: 43,879,812 (GRCm39)	W1076R	probably damaging	Het
Cdc34	T	G	10: 79,523,888 (GRCm39)	S235A	probably benign	Het
Cdh8	G	T	8: 99,757,656 (GRCm39)	H647Q	probably damaging	Het
Cdk1	A	T	10: 69,174,377 (GRCm39)	L282Q	probably damaging	Het
Ceacam3	A	G	7: 16,893,902 (GRCm39)	D471G	probably damaging	Het
Ciao2b	A	T	8: 105,367,620 (GRCm39)	I108N	possibly damaging	Het
Cltc	A	T	11: 86,648,105 (GRCm39)	I4N	probably benign	Het
Cntfr	T	A	4: 41,658,816 (GRCm39)	E305V	probably damaging	Het
Cwh43	T	A	5: 73,591,653 (GRCm39)	I496N	probably damaging	Het
Cyp2f2	A	G	7: 26,829,149 (GRCm39)	N218S	probably benign	Het
D16Ertd472e	A	G	16: 78,343,392 (GRCm39)		probably null	Het
Dab2	A	G	15: 6,459,351 (GRCm39)	Q400R	possibly damaging	Het
Dapl1	A	T	2: 59,326,906 (GRCm39)	I51F	probably benign	Het
Drc7	G	A	8: 95,800,960 (GRCm39)		probably null	Het
Etl4	A	G	2: 20,811,219 (GRCm39)	T1101A	probably damaging	Het
Fam83c	C	A	2: 155,671,971 (GRCm39)	R488M	possibly damaging	Het
Fbxo42	A	G	4: 140,927,840 (GRCm39)	T707A	probably damaging	Het
Fcmr	A	T	1: 130,803,922 (GRCm39)		probably null	Het
Fer1l6	G	C	15: 58,518,930 (GRCm39)	K1687N	probably damaging	Het
Fgd4	G	A	16: 16,292,893 (GRCm39)	R275*	probably null	Het
Fxr2	G	A	11: 69,532,139 (GRCm39)	C87Y	possibly damaging	Het
Gja4	A	T	4: 127,206,472 (GRCm39)	I97N	probably damaging	Het
Gm136	A	G	4: 34,750,919 (GRCm39)		probably null	Het
Gm14496	A	G	2: 181,642,837 (GRCm39)	D836G	possibly damaging	Het
Grm3	T	A	5: 9,561,520 (GRCm39)	T777S	probably damaging	Het
Guca2b	A	G	4: 119,514,912 (GRCm39)	Y50H	probably damaging	Het
Herc2	C	T	7: 55,786,415 (GRCm39)	P1587S	probably benign	Het
Hmcn1	C	T	1: 150,545,309 (GRCm39)	S2766N	probably benign	Het
Idi2	T	A	13: 9,009,455 (GRCm39)	I224K	probably damaging	Het
Kmt2a	A	T	9: 44,735,666 (GRCm39)		probably benign	Het
Lonp2	A	T	8: 87,440,078 (GRCm39)	M693L	possibly damaging	Het
Megf8	G	T	7: 25,046,172 (GRCm39)	M1525I	possibly damaging	Het
Mgme1	T	C	2: 144,121,018 (GRCm39)	V276A	possibly damaging	Het
Mief2	G	T	11: 60,622,234 (GRCm39)	W268L	probably damaging	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Mreg	T	C	1: 72,231,356 (GRCm39)	N34S	probably benign	Het
Myf6	T	C	10: 107,330,534 (GRCm39)	Y11C	probably damaging	Het
Myh9	C	A	15: 77,655,367 (GRCm39)	Q1196H	probably benign	Het
Myh9	A	T	15: 77,660,099 (GRCm39)	D56E	probably benign	Het
Myo5c	A	T	9: 75,184,357 (GRCm39)	R949S	probably benign	Het
Ncapg2	TAA	TA	12: 116,398,305 (GRCm39)		probably null	Het
Nfx1	T	A	4: 40,977,004 (GRCm39)	V226E	probably benign	Het
Nlrp10	T	A	7: 108,523,737 (GRCm39)	K581M	possibly damaging	Het
Nmd3	T	G	3: 69,647,317 (GRCm39)	I273S	probably benign	Het
Or4c3	A	T	2: 89,852,314 (GRCm39)	I32N	possibly damaging	Het
P4hb	T	C	11: 120,462,442 (GRCm39)	E88G	probably damaging	Het
Pcnx3	A	T	19: 5,715,773 (GRCm39)	H1444Q	probably benign	Het
Pdia4	A	T	6: 47,776,133 (GRCm39)	F421L	possibly damaging	Het
Picalm	T	A	7: 89,840,459 (GRCm39)	S538T	probably damaging	Het
Ppp2r2b	T	A	18: 43,192,275 (GRCm39)	I11F	probably benign	Het
Prb1c	A	G	6: 132,339,969 (GRCm39)		probably null	Het
Ptk7	C	T	17: 46,884,460 (GRCm39)	E757K	possibly damaging	Het
Rbm22	T	G	18: 60,694,340 (GRCm39)	C24W	probably damaging	Het
Rev3l	A	G	10: 39,682,658 (GRCm39)	D288G	probably damaging	Het
Rgs18	T	A	1: 144,629,791 (GRCm39)	H156L	probably benign	Het
Rnf213	A	G	11: 119,333,405 (GRCm39)	I2871M	probably damaging	Het
Rrp12	A	T	19: 41,857,224 (GRCm39)	D1183E	probably benign	Het
Sacs	G	A	14: 61,441,277 (GRCm39)	V1108M	probably damaging	Het
Scube2	A	T	7: 109,442,421 (GRCm39)	D270E	possibly damaging	Het
Serpina3a	T	A	12: 104,082,737 (GRCm39)	F170Y	probably damaging	Het
Serpinb3b	T	C	1: 107,082,403 (GRCm39)	E287G	probably benign	Het
Slamf8	C	T	1: 172,412,186 (GRCm39)	V130M	probably damaging	Het
Slc5a3	T	C	16: 91,874,284 (GRCm39)	S114P	possibly damaging	Het
Sos1	T	A	17: 80,730,108 (GRCm39)		probably null	Het
Sox10	A	T	15: 79,040,660 (GRCm39)	D293E	probably damaging	Het
Sphk1	A	G	11: 116,426,596 (GRCm39)	D177G	probably damaging	Het
Sphkap	T	G	1: 83,256,121 (GRCm39)	M543L	probably benign	Het
Syt13	A	T	2: 92,783,760 (GRCm39)	K343N	probably damaging	Het
Tatdn3	A	G	1: 190,792,373 (GRCm39)	M34T	probably benign	Het
Timd4	T	G	11: 46,732,989 (GRCm39)	V305G	possibly damaging	Het
Tnnc2	T	C	2: 164,619,512 (GRCm39)	I111V	probably benign	Het
Togaram2	C	T	17: 72,004,846 (GRCm39)	P301L	probably benign	Het
Trpc3	T	C	3: 36,694,776 (GRCm39)	N726S	probably damaging	Het
Tspear	T	A	10: 77,706,253 (GRCm39)	L341H	possibly damaging	Het
Ugt1a5	T	A	1: 88,093,805 (GRCm39)		probably benign	Het
Ulk3	A	T	9: 57,500,443 (GRCm39)		probably null	Het
Unc5d	T	A	8: 29,250,777 (GRCm39)	I297L	probably benign	Het
Usp20	A	G	2: 30,908,830 (GRCm39)	I804V	probably benign	Het
Usp22	G	T	11: 61,052,144 (GRCm39)	C278*	probably null	Het
Usp53	A	T	3: 122,727,872 (GRCm39)	N903K	probably benign	Het
V1rd19	T	C	7: 23,702,812 (GRCm39)	F93L	probably benign	Het
Zdbf2	T	A	1: 63,343,493 (GRCm39)	V624E	possibly damaging	Het
Zfyve16	A	T	13: 92,645,528 (GRCm39)	S1073T	probably damaging	Het
Zkscan8	T	C	13: 21,710,765 (GRCm39)	H115R	possibly damaging	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
R0026:Rrm2b	UTSW	15	37,953,985 (GRCm39)	missense	probably benign	0.19
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
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'- TCTGATGCAACATGACCTGCAAGG -3'
(R):5'- TGTGAGCAGAGTTAAGTGAGAGCCT -3'

Sequencing Primer
(F):5'- AAGACTACCTGGTTCTATACCGTG -3'
(R):5'- AAGTGAGAGCCTGCTCATTG -3'

Posted On

2014-04-24