Mutagenetix > Incidental Mutation

Incidental Mutation 'R7797:Rrm2b'

600314

Institutional Source

Beutler Lab

Gene Symbol

Rrm2b

Ensembl Gene

ENSMUSG00000022292

Gene Name

ribonucleotide reductase M2 B (TP53 inducible)

Synonyms

p53R2

MMRRC Submission

045853-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.599) question?

Stock #

R7797 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37924196-37961562 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 37927505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 347 (L347*)

Ref Sequence

ENSEMBL: ENSMUSP00000022901 (fasta)

Gene Model

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

AlphaFold

Q6PEE3

Predicted Effect

probably null
Transcript: ENSMUST00000022901
AA Change: L347*

SMART Domains

Protein: ENSMUSP00000022901
Gene: ENSMUSG00000022292
AA Change: L347*

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

Predicted Effect

probably null
Transcript: ENSMUST00000137636
AA Change: L295*

SMART Domains

Protein: ENSMUSP00000119400
Gene: ENSMUSG00000022292
AA Change: L295*

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 null
Transcript: ENSMUST00000146821
AA Change: L135*

SMART Domains

Protein: ENSMUSP00000123691
Gene: ENSMUSG00000022292
AA Change: L135*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153481

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (68/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,862,509 (GRCm39)		probably null	Het
Adam3	T	G	8: 25,184,660 (GRCm39)	N535T	probably damaging	Het
Adam34l	T	A	8: 44,079,411 (GRCm39)	E271V	probably benign	Het
Adamts4	A	G	1: 171,085,387 (GRCm39)	K679E	probably damaging	Het
Arnt	G	A	3: 95,387,572 (GRCm39)		probably null	Het
Asah2	A	G	19: 31,999,761 (GRCm39)	F321L	probably damaging	Het
Asb15	T	C	6: 24,562,505 (GRCm39)	S156P	probably damaging	Het
Baiap2l1	A	C	5: 144,255,760 (GRCm39)	S65A	probably damaging	Het
Bend7	T	G	2: 4,754,455 (GRCm39)	M186R	probably damaging	Het
Blnk	T	C	19: 40,948,232 (GRCm39)	K146E	possibly damaging	Het
Cd19	A	G	7: 126,012,680 (GRCm39)	W238R	probably damaging	Het
Cd44	T	A	2: 102,679,079 (GRCm39)	N241I	probably benign	Het
Cdh23	T	C	10: 60,220,973 (GRCm39)	E1257G	probably benign	Het
Cfap300	G	T	9: 8,027,130 (GRCm39)	P136Q	possibly damaging	Het
Cntnap5c	T	C	17: 58,666,270 (GRCm39)	V1100A	probably benign	Het
Cul7	T	C	17: 46,969,568 (GRCm39)	V945A	possibly damaging	Het
Dock2	C	T	11: 34,232,652 (GRCm39)	C1116Y	probably damaging	Het
Ehbp1	T	C	11: 22,046,109 (GRCm39)	M547V	possibly damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Grhl3	C	G	4: 135,286,416 (GRCm39)	K88N	possibly damaging	Het
Hbb-y	T	A	7: 103,501,088 (GRCm39)	Y146F	probably damaging	Het
Hivep2	T	C	10: 14,005,847 (GRCm39)	V815A	probably benign	Het
Hoxa7	T	A	6: 52,192,870 (GRCm39)	I173F	probably damaging	Het
Igkv1-110	T	G	6: 68,247,977 (GRCm39)	S29A	probably benign	Het
Jade2	A	G	11: 51,708,126 (GRCm39)	S696P	probably benign	Het
Kif1b	T	A	4: 149,321,844 (GRCm39)	Q1025L	probably benign	Het
Kif2c	A	T	4: 117,028,940 (GRCm39)	C241S	probably benign	Het
Kmt2d	G	T	15: 98,762,287 (GRCm39)	H400N	probably benign	Het
Krt35	T	A	11: 99,985,713 (GRCm39)	N174Y	probably damaging	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Magi3	A	G	3: 103,958,618 (GRCm39)	V489A	probably damaging	Het
Mapk7	T	C	11: 61,380,241 (GRCm39)	E739G	possibly damaging	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Mdga1	C	T	17: 30,061,814 (GRCm39)		probably null	Het
Megf8	G	A	7: 25,034,022 (GRCm39)	R607H	probably damaging	Het
Met	T	A	6: 17,533,952 (GRCm39)	N634K	probably damaging	Het
Miip	C	T	4: 147,947,375 (GRCm39)	G236S	probably benign	Het
Mmp11	G	T	10: 75,759,314 (GRCm39)	T107K		Het
Mroh2b	A	C	15: 4,978,587 (GRCm39)	N1378H	probably benign	Het
Naa15	G	A	3: 51,356,031 (GRCm39)	C322Y	probably damaging	Het
Naip1	T	A	13: 100,580,986 (GRCm39)	Y87F	probably damaging	Het
Ngrn	A	G	7: 79,914,185 (GRCm39)	D112G	probably benign	Het
Osbpl1a	C	A	18: 13,015,321 (GRCm39)	C369F	probably damaging	Het
Pcnx2	G	C	8: 126,512,087 (GRCm39)	D1406E	possibly damaging	Het
Phf8-ps	T	C	17: 33,286,664 (GRCm39)	D46G	probably damaging	Het
Pold1	G	A	7: 44,191,213 (GRCm39)	P206L	probably benign	Het
Psen1	A	G	12: 83,746,396 (GRCm39)	S20G	probably benign	Het
Ptpn23	C	T	9: 110,222,875 (GRCm39)	D61N	possibly damaging	Het
Rbfox3	A	T	11: 118,387,310 (GRCm39)	L268Q	possibly damaging	Het
Rbm22	A	G	18: 60,694,344 (GRCm39)	T26A	probably damaging	Het
Rpgrip1	G	A	14: 52,371,277 (GRCm39)	R332Q	possibly damaging	Het
Rsf1	A	T	7: 97,310,692 (GRCm39)	D474V		Het
Ryr2	C	T	13: 11,816,066 (GRCm39)	R640Q	probably damaging	Het
Sec16b	A	G	1: 157,389,245 (GRCm39)	E691G	unknown	Het
Septin1	A	T	7: 126,813,937 (GRCm39)	V365E	unknown	Het
Tlk2	A	G	11: 105,101,444 (GRCm39)	H114R	probably benign	Het
Tmem200a	A	G	10: 25,869,864 (GRCm39)	I135T	possibly damaging	Het
Tpst2	T	A	5: 112,455,782 (GRCm39)	V107E	probably damaging	Het
Trim30a	A	T	7: 104,060,407 (GRCm39)	D456E	possibly damaging	Het
Ttll3	T	C	6: 113,371,738 (GRCm39)	V45A	possibly damaging	Het
Ulk2	A	G	11: 61,672,928 (GRCm39)	Y889H	probably benign	Het
Umodl1	A	G	17: 31,178,125 (GRCm39)	S34G	probably benign	Het
Vmn1r67	A	G	7: 10,180,903 (GRCm39)	I56V	probably benign	Het
Vmn2r120	C	T	17: 57,815,874 (GRCm39)	G827E	probably damaging	Het
Zc3h6	T	C	2: 128,857,555 (GRCm39)		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
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
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
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'- CAACAACAGGTTTCCATGTGTTTTG -3'
(R):5'- CTATGAAGTGGAGTCCTGCC -3'

Sequencing Primer
(F):5'- CCATGTGTTTTGTTTGTTTTCGC -3'
(R):5'- AAGTGGAGTCCTGCCCTCTG -3'

Posted On

2019-11-26