Incidental Mutation 'R1371:Rrm2b'
| ID |
157342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrm2b
|
| Ensembl Gene |
ENSMUSG00000022292 |
| Gene Name |
ribonucleotide reductase M2 B (TP53 inducible) |
| Synonyms |
p53R2 |
| MMRRC Submission |
039435-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.599)
|
| Stock # |
R1371 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
37924196-37961562 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37947053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 83
(S83T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121069
(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: S83T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022901
Gene: ENSMUSG00000022292
AA Change: S83T
| 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
AA Change: S31T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000119400
Gene: ENSMUSG00000022292
AA Change: S31T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribonuc_red_sm
|
6 |
261 |
1.7e-112 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144498
AA Change: S83T
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000121069
Gene: ENSMUSG00000022292
AA Change: S83T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribonuc_red_sm
|
32 |
111 |
2.2e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145155
AA Change: S29T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145175
AA Change: S69T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000114343
Gene: ENSMUSG00000022292
AA Change: S69T
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.7%
- 20x: 89.0%
|
| Validation Efficiency |
100% (55/55) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,844,379 (GRCm39) |
D884V |
probably damaging |
Het |
| Acvr2a |
C |
T |
2: 48,789,628 (GRCm39) |
T457M |
probably damaging |
Het |
| Akr1b10 |
C |
T |
6: 34,369,394 (GRCm39) |
T208I |
probably benign |
Het |
| Aldh16a1 |
G |
T |
7: 44,796,674 (GRCm39) |
T275K |
possibly damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Asgr1 |
T |
G |
11: 69,946,923 (GRCm39) |
C56W |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,860,918 (GRCm39) |
I335T |
probably damaging |
Het |
| BC061237 |
A |
G |
14: 44,741,762 (GRCm39) |
|
probably benign |
Het |
| Bdh1 |
G |
T |
16: 31,275,720 (GRCm39) |
K280N |
probably benign |
Het |
| Bmp1 |
C |
T |
14: 70,729,906 (GRCm39) |
C466Y |
probably damaging |
Het |
| Ccdc181 |
A |
G |
1: 164,108,172 (GRCm39) |
E285G |
probably benign |
Het |
| Ces1f |
C |
T |
8: 94,006,277 (GRCm39) |
G18R |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,824,045 (GRCm39) |
I109L |
possibly damaging |
Het |
| Cma2 |
T |
C |
14: 56,210,283 (GRCm39) |
L56S |
probably damaging |
Het |
| Edc4 |
A |
G |
8: 106,617,382 (GRCm39) |
|
probably benign |
Het |
| F3 |
T |
C |
3: 121,526,159 (GRCm39) |
C241R |
probably damaging |
Het |
| Fhdc1 |
T |
A |
3: 84,352,310 (GRCm39) |
S972C |
probably damaging |
Het |
| Heatr1 |
T |
G |
13: 12,432,513 (GRCm39) |
I1086R |
possibly damaging |
Het |
| Hsh2d |
A |
T |
8: 72,950,738 (GRCm39) |
|
probably benign |
Het |
| Ice1 |
T |
C |
13: 70,744,340 (GRCm39) |
Y2081C |
probably damaging |
Het |
| Il1rl1 |
A |
G |
1: 40,481,873 (GRCm39) |
N194D |
probably damaging |
Het |
| Ip6k1 |
G |
A |
9: 107,923,022 (GRCm39) |
V385M |
probably damaging |
Het |
| Lig1 |
G |
A |
7: 13,022,611 (GRCm39) |
R147Q |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 40,537,165 (GRCm39) |
V41I |
probably damaging |
Het |
| Macroh2a2 |
A |
T |
10: 61,585,112 (GRCm39) |
D177E |
possibly damaging |
Het |
| Mst1r |
T |
A |
9: 107,794,424 (GRCm39) |
V1201E |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,892,116 (GRCm39) |
|
probably benign |
Het |
| Nbas |
G |
T |
12: 13,532,379 (GRCm39) |
|
probably benign |
Het |
| Ndst1 |
A |
G |
18: 60,840,719 (GRCm39) |
I321T |
possibly damaging |
Het |
| Nek10 |
G |
A |
14: 14,850,983 (GRCm38) |
G343R |
probably damaging |
Het |
| Or2a7 |
A |
T |
6: 43,151,234 (GRCm39) |
T105S |
probably benign |
Het |
| Or2y1 |
T |
A |
11: 49,385,650 (GRCm39) |
C97S |
probably damaging |
Het |
| Or4d2b |
A |
T |
11: 87,780,122 (GRCm39) |
I200N |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 109,253,595 (GRCm39) |
S141P |
probably benign |
Het |
| Pigm |
A |
T |
1: 172,204,381 (GRCm39) |
Q39L |
probably damaging |
Het |
| Prl7a2 |
T |
A |
13: 27,846,750 (GRCm39) |
I88F |
probably benign |
Het |
| Prss16 |
T |
A |
13: 22,192,856 (GRCm39) |
|
probably benign |
Het |
| Psmc4 |
G |
A |
7: 27,742,222 (GRCm39) |
|
probably benign |
Het |
| Ptger3 |
T |
A |
3: 157,273,365 (GRCm39) |
C237* |
probably null |
Het |
| Recql |
G |
A |
6: 142,318,601 (GRCm39) |
T214M |
probably damaging |
Het |
| Rfx7 |
T |
A |
9: 72,526,857 (GRCm39) |
V1349D |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,964,041 (GRCm39) |
S1740P |
probably damaging |
Het |
| Sall4 |
A |
G |
2: 168,598,394 (GRCm39) |
Y149H |
probably benign |
Het |
| Smad1 |
A |
G |
8: 80,076,207 (GRCm39) |
|
probably benign |
Het |
| Snrnp70 |
T |
C |
7: 45,030,129 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
C |
A |
15: 9,725,194 (GRCm39) |
|
probably benign |
Het |
| Sptlc1 |
T |
C |
13: 53,505,660 (GRCm39) |
T253A |
probably benign |
Het |
| Zbbx |
T |
C |
3: 74,959,784 (GRCm39) |
Y595C |
possibly damaging |
Het |
| Zfp382 |
T |
C |
7: 29,833,114 (GRCm39) |
V255A |
probably benign |
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 |
|
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'- TGGGAGACTTTCTTTCCTCAGGCAG -3'
(R):5'- TCACCACTTCCTTGAACATGCCAG -3'
Sequencing Primer
(F):5'- CTTTCCTCAGGCAGGAGATATG -3'
(R):5'- accactgagccatctctcc -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation