Incidental Mutation 'IGL02836:Rps2'
| ID |
361661 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rps2
|
| Ensembl Gene |
ENSMUSG00000044533 |
| Gene Name |
ribosomal protein S2 |
| Synonyms |
Rps2, Llrep3 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.277)
|
| Stock # |
IGL02836
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24939037-24940901 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24939650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 107
(L107Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008626]
[ENSMUST00000045602]
[ENSMUST00000054289]
[ENSMUST00000146867]
[ENSMUST00000170715]
[ENSMUST00000152407]
[ENSMUST00000135708]
|
| AlphaFold |
P25444 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008626
|
| SMART Domains |
Protein: ENSMUSP00000008626
Gene: ENSMUSG00000008482
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
20 |
57 |
1.76e-5 |
SMART |
|
Pfam:zf-TRAF
|
102 |
158 |
7.5e-9 |
PFAM |
|
low complexity region
|
176 |
193 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
216 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045602
|
| SMART Domains |
Protein: ENSMUSP00000043543
Gene: ENSMUSG00000040048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
25 |
N/A |
INTRINSIC |
|
Pfam:NDUFB10
|
42 |
168 |
2.1e-52 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054289
AA Change: L107Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092502
Gene: ENSMUSG00000044533
AA Change: L107Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
53 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_S5
|
102 |
166 |
5.7e-34 |
PFAM |
|
Pfam:Ribosomal_S5_C
|
185 |
256 |
2.4e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104521
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129451
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129580
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146867
AA Change: L107Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120715
Gene: ENSMUSG00000044533
AA Change: L107Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
53 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_S5
|
102 |
166 |
1.7e-35 |
PFAM |
|
Pfam:Ribosomal_S5_C
|
185 |
256 |
8.3e-32 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170715
AA Change: L107Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131474
Gene: ENSMUSG00000044533
AA Change: L107Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
53 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_S5
|
101 |
167 |
1.1e-31 |
PFAM |
|
Pfam:Ribosomal_S5_C
|
184 |
257 |
1.3e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152407
AA Change: L107Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114529
Gene: ENSMUSG00000044533
AA Change: L107Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
53 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_S5
|
101 |
167 |
9.2e-32 |
PFAM |
|
Pfam:Ribosomal_S5_C
|
184 |
257 |
1.2e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129984
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141324
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158630
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161706
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147648
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132803
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144285
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135708
|
| SMART Domains |
Protein: ENSMUSP00000120091
Gene: ENSMUSG00000040048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
25 |
N/A |
INTRINSIC |
|
Pfam:NDUFB10
|
54 |
149 |
7.1e-40 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S5P family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with mouse LLRep3. It is co-transcribed with the small nucleolar RNA gene U64, which is located in its third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
T |
A |
4: 144,349,782 (GRCm39) |
N346K |
possibly damaging |
Het |
| Abca15 |
A |
G |
7: 119,987,439 (GRCm39) |
M1242V |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,139,374 (GRCm39) |
E33D |
probably damaging |
Het |
| Abca8a |
T |
C |
11: 109,961,177 (GRCm39) |
K582E |
possibly damaging |
Het |
| Abcb6 |
A |
G |
1: 75,154,646 (GRCm39) |
L263P |
probably damaging |
Het |
| Adamts2 |
A |
C |
11: 50,678,106 (GRCm39) |
E795A |
probably damaging |
Het |
| Avil |
T |
A |
10: 126,844,864 (GRCm39) |
I292N |
probably damaging |
Het |
| Cd300ld2 |
T |
C |
11: 114,904,576 (GRCm39) |
D97G |
probably benign |
Het |
| Cfh |
A |
C |
1: 140,030,137 (GRCm39) |
I912R |
probably damaging |
Het |
| Cyp26c1 |
A |
T |
19: 37,675,604 (GRCm39) |
Q156L |
probably benign |
Het |
| Dhx57 |
T |
C |
17: 80,574,978 (GRCm39) |
I614V |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,660,826 (GRCm39) |
S896T |
probably damaging |
Het |
| Dmtn |
G |
T |
14: 70,853,518 (GRCm39) |
P97Q |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,713,160 (GRCm39) |
V1931E |
probably damaging |
Het |
| Dpep2 |
C |
A |
8: 106,717,227 (GRCm39) |
|
probably null |
Het |
| Dsg1c |
T |
A |
18: 20,400,986 (GRCm39) |
L163Q |
probably benign |
Het |
| Esyt3 |
A |
G |
9: 99,202,960 (GRCm39) |
|
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,816,783 (GRCm39) |
I2415N |
possibly damaging |
Het |
| Fpr-rs6 |
T |
C |
17: 20,403,307 (GRCm39) |
D18G |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,682,725 (GRCm39) |
V74A |
possibly damaging |
Het |
| Frem3 |
T |
C |
8: 81,341,010 (GRCm39) |
V1101A |
probably benign |
Het |
| Fut8 |
T |
A |
12: 77,496,987 (GRCm39) |
V399E |
probably benign |
Het |
| Galntl5 |
G |
T |
5: 25,391,237 (GRCm39) |
K45N |
probably benign |
Het |
| Gbe1 |
A |
G |
16: 70,357,983 (GRCm39) |
Y669C |
possibly damaging |
Het |
| Gcnt1 |
T |
C |
19: 17,307,493 (GRCm39) |
I77M |
probably benign |
Het |
| Itprid1 |
T |
A |
6: 55,875,075 (GRCm39) |
W342R |
probably damaging |
Het |
| Mark2 |
A |
G |
19: 7,255,405 (GRCm39) |
|
probably null |
Het |
| Muc2 |
A |
T |
7: 141,300,450 (GRCm39) |
|
probably benign |
Het |
| Nacc2 |
C |
T |
2: 25,980,329 (GRCm39) |
V36I |
probably damaging |
Het |
| Nphp1 |
T |
C |
2: 127,611,543 (GRCm39) |
I268V |
probably benign |
Het |
| Oosp3 |
A |
G |
19: 11,678,332 (GRCm39) |
I5V |
probably benign |
Het |
| Or9m1 |
T |
G |
2: 87,733,724 (GRCm39) |
T99P |
possibly damaging |
Het |
| Pex7 |
A |
G |
10: 19,769,990 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,988,440 (GRCm39) |
K352E |
probably benign |
Het |
| Rheb |
T |
A |
5: 25,008,709 (GRCm39) |
I170F |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,382,714 (GRCm39) |
|
probably null |
Het |
| Rrp1 |
A |
T |
10: 78,240,874 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
A |
T |
10: 85,779,806 (GRCm39) |
V288D |
possibly damaging |
Het |
| Sec14l3 |
T |
C |
11: 4,020,084 (GRCm39) |
F174L |
probably benign |
Het |
| Slc28a1 |
G |
A |
7: 80,775,909 (GRCm39) |
V202M |
probably damaging |
Het |
| Slc44a3 |
A |
T |
3: 121,325,366 (GRCm39) |
C32S |
probably damaging |
Het |
| Syne1 |
G |
A |
10: 5,359,875 (GRCm39) |
|
probably benign |
Het |
| Synrg |
C |
A |
11: 83,892,804 (GRCm39) |
|
probably benign |
Het |
| Tmem219 |
A |
T |
7: 126,488,121 (GRCm39) |
F265I |
probably benign |
Het |
| Tmem94 |
T |
C |
11: 115,683,765 (GRCm39) |
I726T |
probably damaging |
Het |
| Trim37 |
T |
C |
11: 87,087,785 (GRCm39) |
M632T |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,790,846 (GRCm39) |
Q627L |
probably damaging |
Het |
| Uvrag |
A |
G |
7: 98,628,984 (GRCm39) |
V361A |
possibly damaging |
Het |
| Yipf3 |
C |
A |
17: 46,562,520 (GRCm39) |
N308K |
possibly damaging |
Het |
| Zfp438 |
A |
G |
18: 5,245,427 (GRCm39) |
|
probably benign |
Het |
| Zmiz1 |
T |
A |
14: 25,657,166 (GRCm39) |
|
probably benign |
Het |
| Zranb3 |
A |
G |
1: 127,888,562 (GRCm39) |
V841A |
probably benign |
Het |
|
| Other mutations in Rps2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02981:Rps2
|
APN |
17 |
24,940,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03123:Rps2
|
APN |
17 |
24,939,263 (GRCm39) |
unclassified |
probably benign |
|
|
R2504:Rps2
|
UTSW |
17 |
24,939,353 (GRCm39) |
unclassified |
probably benign |
|
|
R3160:Rps2
|
UTSW |
17 |
24,939,952 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3161:Rps2
|
UTSW |
17 |
24,939,952 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3162:Rps2
|
UTSW |
17 |
24,939,952 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5877:Rps2
|
UTSW |
17 |
24,939,890 (GRCm39) |
intron |
probably benign |
|
|
R7247:Rps2
|
UTSW |
17 |
24,939,554 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8135:Rps2
|
UTSW |
17 |
24,939,409 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8351:Rps2
|
UTSW |
17 |
24,939,334 (GRCm39) |
unclassified |
probably benign |
|
|
R8862:Rps2
|
UTSW |
17 |
24,940,662 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8947:Rps2
|
UTSW |
17 |
24,940,227 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9536:Rps2
|
UTSW |
17 |
24,940,851 (GRCm39) |
missense |
unknown |
|
|
R9762:Rps2
|
UTSW |
17 |
24,940,810 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation