Incidental Mutation 'R4042:Rrm2'
| ID |
315782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrm2
|
| Ensembl Gene |
ENSMUSG00000020649 |
| Gene Name |
ribonucleotide reductase M2 |
| Synonyms |
R2 |
| MMRRC Submission |
040851-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4042 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
24758253-24764145 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24761450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 162
(Y162H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120893
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020980]
[ENSMUST00000153058]
[ENSMUST00000154588]
|
| AlphaFold |
P11157 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020980
AA Change: Y193H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020980
Gene: ENSMUSG00000020649
AA Change: Y193H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribonuc_red_sm
|
80 |
347 |
1.6e-124 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147789
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153058
AA Change: Y162H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120893
Gene: ENSMUSG00000020649
AA Change: Y162H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Ribonuc_red_sm
|
40 |
225 |
2.6e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154588
AA Change: Y105H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119502
Gene: ENSMUSG00000020649
AA Change: Y105H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribonuc_red_sm
|
1 |
181 |
2.7e-88 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two non-identical subunits for ribonucleotide reductase. This reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. Synthesis of the encoded protein (M2) is regulated in a cell-cycle dependent fashion. Transcription from this gene can initiate from alternative promoters, which results in two isoforms that differ in the lengths of their N-termini. Related pseudogenes have been identified on chromosomes 1 and X. [provided by RefSeq, Sep 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts10 |
A |
G |
17: 33,768,514 (GRCm39) |
H864R |
possibly damaging |
Het |
| Akap6 |
A |
T |
12: 53,186,162 (GRCm39) |
|
probably null |
Het |
| Alox5 |
A |
G |
6: 116,437,979 (GRCm39) |
S3P |
possibly damaging |
Het |
| Bcl2l2 |
G |
A |
14: 55,122,091 (GRCm39) |
E85K |
possibly damaging |
Het |
| Chd6 |
A |
T |
2: 160,830,253 (GRCm39) |
I1014N |
probably damaging |
Het |
| Cog1 |
A |
T |
11: 113,551,836 (GRCm39) |
Q156L |
probably damaging |
Het |
| Col28a1 |
G |
A |
6: 8,014,678 (GRCm39) |
S909F |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,477,480 (GRCm39) |
G3339D |
probably damaging |
Het |
| Cst11 |
A |
G |
2: 148,613,200 (GRCm39) |
S42P |
probably benign |
Het |
| Cyp2d10 |
C |
T |
15: 82,290,269 (GRCm39) |
R67H |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,813,896 (GRCm39) |
R3405L |
probably benign |
Het |
| H2-Ab1 |
T |
C |
17: 34,483,834 (GRCm39) |
V65A |
probably benign |
Het |
| Hdac6 |
T |
C |
X: 7,797,731 (GRCm39) |
T993A |
probably benign |
Het |
| Insrr |
T |
A |
3: 87,721,134 (GRCm39) |
M1095K |
probably damaging |
Het |
| Itih4 |
A |
T |
14: 30,616,995 (GRCm39) |
N517I |
probably damaging |
Het |
| Krt10 |
C |
T |
11: 99,277,819 (GRCm39) |
|
probably null |
Het |
| Mettl16 |
T |
A |
11: 74,683,118 (GRCm39) |
F187I |
probably damaging |
Het |
| Miga2 |
T |
C |
2: 30,257,738 (GRCm39) |
I12T |
possibly damaging |
Het |
| Muc5b |
T |
C |
7: 141,418,624 (GRCm39) |
Y3857H |
possibly damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,317,871 (GRCm39) |
S165P |
probably damaging |
Het |
| Or5bb10 |
A |
T |
19: 12,206,676 (GRCm39) |
I83N |
probably benign |
Het |
| Otol1 |
A |
G |
3: 69,935,112 (GRCm39) |
D368G |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,934,241 (GRCm39) |
D823G |
probably benign |
Het |
| Ppme1 |
A |
G |
7: 99,990,272 (GRCm39) |
S226P |
probably damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,975,909 (GRCm39) |
F96S |
probably damaging |
Het |
| Prss40 |
G |
T |
1: 34,599,960 (GRCm39) |
S9* |
probably null |
Het |
| Prune2 |
T |
C |
19: 16,981,190 (GRCm39) |
|
probably null |
Het |
| Radx |
C |
T |
X: 138,407,752 (GRCm39) |
S364L |
probably damaging |
Homo |
| Rgl2 |
C |
T |
17: 34,156,236 (GRCm39) |
R775W |
probably damaging |
Het |
| Rpp40 |
A |
G |
13: 36,082,549 (GRCm39) |
C275R |
probably benign |
Het |
| Spata6l |
A |
T |
19: 28,923,183 (GRCm39) |
C80S |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,991,584 (GRCm39) |
M8377V |
probably benign |
Het |
| Uchl4 |
A |
C |
9: 64,142,839 (GRCm39) |
I107L |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,870,952 (GRCm39) |
E276G |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
| Vcan |
T |
A |
13: 89,840,662 (GRCm39) |
L1627F |
probably benign |
Het |
| Ythdc1 |
T |
C |
5: 86,964,383 (GRCm39) |
I76T |
probably benign |
Het |
|
| Other mutations in Rrm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02354:Rrm2
|
APN |
12 |
24,761,438 (GRCm39) |
splice site |
probably benign |
|
|
IGL02361:Rrm2
|
APN |
12 |
24,761,438 (GRCm39) |
splice site |
probably benign |
|
|
IGL02957:Rrm2
|
APN |
12 |
24,758,440 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1804:Rrm2
|
UTSW |
12 |
24,758,611 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1854:Rrm2
|
UTSW |
12 |
24,763,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3826:Rrm2
|
UTSW |
12 |
24,758,598 (GRCm39) |
missense |
probably benign |
|
|
R3827:Rrm2
|
UTSW |
12 |
24,758,598 (GRCm39) |
missense |
probably benign |
|
|
R3828:Rrm2
|
UTSW |
12 |
24,758,598 (GRCm39) |
missense |
probably benign |
|
|
R3830:Rrm2
|
UTSW |
12 |
24,758,598 (GRCm39) |
missense |
probably benign |
|
|
R3851:Rrm2
|
UTSW |
12 |
24,758,598 (GRCm39) |
missense |
probably benign |
|
|
R3938:Rrm2
|
UTSW |
12 |
24,759,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4192:Rrm2
|
UTSW |
12 |
24,758,377 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5274:Rrm2
|
UTSW |
12 |
24,760,406 (GRCm39) |
nonsense |
probably null |
|
|
R8375:Rrm2
|
UTSW |
12 |
24,762,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8410:Rrm2
|
UTSW |
12 |
24,758,622 (GRCm39) |
missense |
probably benign |
|
|
R8505:Rrm2
|
UTSW |
12 |
24,759,384 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8815:Rrm2
|
UTSW |
12 |
24,760,470 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9716:Rrm2
|
UTSW |
12 |
24,760,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9765:Rrm2
|
UTSW |
12 |
24,758,956 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAGCTGACATTGCTCTGCTAG -3'
(R):5'- TGAGGCCTCGGTATTCTCAG -3'
Sequencing Primer
(F):5'- GACATTGCTCTGCTAGGACATTATAG -3'
(R):5'- TCGGTATTCTCAGCACAGGC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation