Mutagenetix > Incidental Mutation

Incidental Mutation 'R3196:Rrm2b'

267672

Institutional Source

Beutler Lab

Gene Symbol

Rrm2b

Ensembl Gene

ENSMUSG00000022292

Gene Name

ribonucleotide reductase M2 B (TP53 inducible)

Synonyms

p53R2

MMRRC Submission

040617-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.571) question?

Stock #

R3196 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37924196-37961562 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 37945391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114343 (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: Q116R

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

SMART Domains

Protein: ENSMUSP00000022901
Gene: ENSMUSG00000022292
AA Change: Q116R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127362

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137636
AA Change: Q64R

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119400
Gene: ENSMUSG00000022292
AA Change: Q64R

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: ENSMUST00000145155

Predicted Effect

probably null
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

noncoding transcript
Transcript: ENSMUST00000227688

Predicted Effect

probably benign
Transcript: ENSMUST00000153481

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,892,132 (GRCm39)	N158K	probably benign	Het
Acnat1	G	C	4: 49,447,457 (GRCm39)	P357A	probably damaging	Het
Akap6	T	A	12: 53,119,240 (GRCm39)	C1102*	probably null	Het
Amelx	T	C	X: 167,964,826 (GRCm39)		probably benign	Het
Brap	G	A	5: 121,803,259 (GRCm39)	V136I	possibly damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Csgalnact1	TGG	TG	8: 68,913,737 (GRCm39)		probably null	Het
Csk	A	T	9: 57,537,556 (GRCm39)	C119*	probably null	Het
Dcbld1	T	C	10: 52,195,587 (GRCm39)	L265P	probably damaging	Het
Desi1	T	A	15: 81,887,976 (GRCm39)	K31N	probably damaging	Het
Dpy19l2	C	A	9: 24,607,285 (GRCm39)	G59C	probably damaging	Het
Eif2b5	T	C	16: 20,324,272 (GRCm39)	V498A	probably benign	Het
Epdr1	A	T	13: 19,778,815 (GRCm39)	Y94N	probably damaging	Het
Fat1	T	C	8: 45,404,905 (GRCm39)	V552A	probably benign	Het
Focad	A	G	4: 88,325,588 (GRCm39)	E151G	possibly damaging	Het
Frem1	A	G	4: 82,932,351 (GRCm39)	F117L	probably damaging	Het
Frem2	A	T	3: 53,444,752 (GRCm39)	Y2460N	probably damaging	Het
Gm3604	A	T	13: 62,517,868 (GRCm39)	C163*	probably null	Het
Gpalpp1	A	C	14: 76,336,063 (GRCm39)		probably null	Het
Grid2ip	A	G	5: 143,373,933 (GRCm39)	I858V	probably damaging	Het
Grin2b	ATTGTTGT	ATTGT	6: 135,709,453 (GRCm39)		probably benign	Het
Hps4	A	G	5: 112,512,429 (GRCm39)	T182A	probably damaging	Het
Impa1	A	T	3: 10,394,075 (GRCm39)		probably null	Het
Kcnh3	T	C	15: 99,131,862 (GRCm39)	S606P	probably damaging	Het
Kif23	T	A	9: 61,839,193 (GRCm39)	R301*	probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lcp2	G	T	11: 34,040,670 (GRCm39)	A529S	probably benign	Het
Lhx8	G	A	3: 154,035,925 (GRCm39)	A22V	probably benign	Het
Lin28a	A	T	4: 133,735,235 (GRCm39)	S134T	possibly damaging	Het
Med27	T	A	2: 29,236,882 (GRCm39)	V9E	possibly damaging	Het
Mmp7	C	A	9: 7,692,219 (GRCm39)	S31R	probably benign	Het
Mtcl1	T	G	17: 66,650,829 (GRCm39)	E1545D	probably benign	Het
Muc16	A	G	9: 18,409,126 (GRCm39)	Y187H	probably damaging	Het
Myo3a	G	T	2: 22,404,679 (GRCm39)	K678N	possibly damaging	Het
Nsmce1	T	C	7: 125,085,645 (GRCm39)	M15V	probably benign	Het
Nxpe3	A	T	16: 55,670,078 (GRCm39)	N342K	probably damaging	Het
Or7g25	A	G	9: 19,160,495 (GRCm39)	S67P	probably damaging	Het
Or8g2	T	A	9: 39,821,756 (GRCm39)	I219N	probably damaging	Het
Pcdhb9	A	G	18: 37,534,663 (GRCm39)	N219S	probably benign	Het
Pck2	T	A	14: 55,781,449 (GRCm39)	V190E	probably damaging	Het
Pde4b	G	A	4: 102,456,840 (GRCm39)	A429T	probably damaging	Het
Phf1	T	C	17: 27,153,429 (GRCm39)	V54A	probably damaging	Het
Pla2r1	T	C	2: 60,353,127 (GRCm39)	E278G	probably damaging	Het
Ptges3	G	T	10: 127,908,016 (GRCm39)	R122L	probably benign	Het
Rnpepl1	C	T	1: 92,844,881 (GRCm39)	T391I	probably damaging	Het
Rps6kb1	G	A	11: 86,397,633 (GRCm39)	A404V	probably benign	Het
Sh3rf1	C	T	8: 61,679,321 (GRCm39)	P121L	probably benign	Het
Skint9	T	G	4: 112,248,148 (GRCm39)	I199L	probably benign	Het
Slc9b2	G	T	3: 135,042,290 (GRCm39)	R523L	probably benign	Het
Slco1c1	T	A	6: 141,477,174 (GRCm39)		probably null	Het
Stox2	T	C	8: 47,645,865 (GRCm39)	T532A	probably damaging	Het
Tbcel	A	G	9: 42,327,248 (GRCm39)	L385P	probably damaging	Het
Tle5	A	G	10: 81,401,474 (GRCm39)	N181D	probably benign	Het
Tmem268	G	A	4: 63,496,149 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Top3a	G	A	11: 60,650,182 (GRCm39)	T122M	probably damaging	Het
Trav7n-4	G	A	14: 53,329,088 (GRCm39)	V33I	probably benign	Het
Ttn	T	G	2: 76,539,551 (GRCm39)	E26151D	possibly damaging	Het
Ttn	C	T	2: 76,687,228 (GRCm39)		probably benign	Het
Tyk2	A	G	9: 21,035,328 (GRCm39)	C195R	possibly damaging	Het
Ugt2b38	T	C	5: 87,558,078 (GRCm39)	K528E	probably damaging	Het
Usp28	T	A	9: 48,937,125 (GRCm39)	D483E	probably benign	Het
Vldlr	A	G	19: 27,220,554 (GRCm39)	D598G	probably damaging	Het
Vmn1r51	T	G	6: 90,106,498 (GRCm39)	I138S	probably damaging	Het
Vps13b	G	A	15: 35,869,541 (GRCm39)	A2682T	probably damaging	Het
Wac	T	A	18: 7,917,568 (GRCm39)	V346E	probably damaging	Het
Zdbf2	T	C	1: 63,347,579 (GRCm39)	V1986A	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
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
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'- GTGAGTTATGTAAAGACTACCTGGTTC -3'
(R):5'- GCCCCATTTGTTGTATAACAGG -3'

Sequencing Primer
(F):5'- GGTTCTATACCGTGTTTTACTTGAAC -3'
(R):5'- TTAGGTTTGCCAGCAAGCAC -3'

Posted On

2015-02-18