Incidental Mutation 'R5200:Rsrc2'
ID |
400670 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rsrc2
|
Ensembl Gene |
ENSMUSG00000029422 |
Gene Name |
arginine/serine-rich coiled-coil 2 |
Synonyms |
1500011J06Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.932)
|
Stock # |
R5200 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
123866489-123887477 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 123877562 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 140
(R140*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138631
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050827]
[ENSMUST00000057795]
[ENSMUST00000111515]
[ENSMUST00000182015]
[ENSMUST00000182093]
[ENSMUST00000182241]
[ENSMUST00000182556]
[ENSMUST00000182309]
[ENSMUST00000182489]
[ENSMUST00000182955]
[ENSMUST00000183147]
[ENSMUST00000182411]
|
AlphaFold |
A2RTL5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000050827
AA Change: R140*
|
SMART Domains |
Protein: ENSMUSP00000050563 Gene: ENSMUSG00000029422 AA Change: R140*
Domain | Start | End | E-Value | Type |
low complexity region
|
36 |
54 |
N/A |
INTRINSIC |
low complexity region
|
108 |
208 |
N/A |
INTRINSIC |
low complexity region
|
209 |
226 |
N/A |
INTRINSIC |
coiled coil region
|
228 |
272 |
N/A |
INTRINSIC |
low complexity region
|
294 |
308 |
N/A |
INTRINSIC |
Pfam:SMAP
|
354 |
423 |
6.7e-21 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000057795
AA Change: R140*
|
SMART Domains |
Protein: ENSMUSP00000049942 Gene: ENSMUSG00000029422 AA Change: R140*
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
150 |
N/A |
INTRINSIC |
low complexity region
|
151 |
168 |
N/A |
INTRINSIC |
coiled coil region
|
170 |
214 |
N/A |
INTRINSIC |
low complexity region
|
236 |
250 |
N/A |
INTRINSIC |
Pfam:SMAP
|
295 |
365 |
4.7e-16 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000111515
AA Change: R140*
|
SMART Domains |
Protein: ENSMUSP00000107140 Gene: ENSMUSG00000029422 AA Change: R140*
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
150 |
N/A |
INTRINSIC |
low complexity region
|
151 |
168 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181980
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182015
|
SMART Domains |
Protein: ENSMUSP00000138210 Gene: ENSMUSG00000029422
Domain | Start | End | E-Value | Type |
low complexity region
|
36 |
69 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182093
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182241
|
SMART Domains |
Protein: ENSMUSP00000138162 Gene: ENSMUSG00000029422
Domain | Start | End | E-Value | Type |
low complexity region
|
36 |
69 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000182556
AA Change: R140*
|
SMART Domains |
Protein: ENSMUSP00000138631 Gene: ENSMUSG00000029422 AA Change: R140*
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
150 |
N/A |
INTRINSIC |
low complexity region
|
151 |
168 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000182309
AA Change: R198*
|
SMART Domains |
Protein: ENSMUSP00000138691 Gene: ENSMUSG00000029422 AA Change: R198*
Domain | Start | End | E-Value | Type |
low complexity region
|
36 |
54 |
N/A |
INTRINSIC |
low complexity region
|
108 |
208 |
N/A |
INTRINSIC |
low complexity region
|
209 |
226 |
N/A |
INTRINSIC |
coiled coil region
|
228 |
272 |
N/A |
INTRINSIC |
low complexity region
|
294 |
308 |
N/A |
INTRINSIC |
Pfam:SMAP
|
353 |
423 |
4.7e-16 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000182489
AA Change: R151*
|
SMART Domains |
Protein: ENSMUSP00000138518 Gene: ENSMUSG00000029422 AA Change: R151*
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
10 |
46 |
8.8e-5 |
PROSPERO |
low complexity region
|
61 |
161 |
N/A |
INTRINSIC |
low complexity region
|
162 |
179 |
N/A |
INTRINSIC |
coiled coil region
|
181 |
225 |
N/A |
INTRINSIC |
low complexity region
|
247 |
261 |
N/A |
INTRINSIC |
Pfam:SMAP
|
306 |
376 |
4e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182948
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182968
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182955
|
SMART Domains |
Protein: ENSMUSP00000138280 Gene: ENSMUSG00000029422
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
41 |
N/A |
INTRINSIC |
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
Pfam:SMAP
|
122 |
192 |
1.8e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182809
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182744
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182542
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182612
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183147
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182861
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182411
|
SMART Domains |
Protein: ENSMUSP00000138439 Gene: ENSMUSG00000029422
Domain | Start | End | E-Value | Type |
low complexity region
|
36 |
54 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182584
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183253
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
T |
C |
5: 4,010,734 (GRCm39) |
V497A |
probably benign |
Het |
Alx3 |
T |
C |
3: 107,507,980 (GRCm39) |
F163S |
possibly damaging |
Het |
Ankmy1 |
T |
C |
1: 92,798,014 (GRCm39) |
R997G |
probably benign |
Het |
Arfgef2 |
T |
C |
2: 166,702,604 (GRCm39) |
S848P |
probably benign |
Het |
Atp11b |
A |
G |
3: 35,891,156 (GRCm39) |
I810V |
probably benign |
Het |
C1ql4 |
T |
G |
15: 98,982,718 (GRCm39) |
I212L |
probably benign |
Het |
Cep63 |
T |
C |
9: 102,475,387 (GRCm39) |
Y443C |
probably benign |
Het |
Cfap45 |
C |
T |
1: 172,372,696 (GRCm39) |
Q464* |
probably null |
Het |
Clcn3 |
T |
C |
8: 61,376,039 (GRCm39) |
K618R |
probably damaging |
Het |
Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
Dnaaf4 |
T |
C |
9: 72,879,713 (GRCm39) |
S418P |
probably damaging |
Het |
H2-M10.2 |
T |
G |
17: 36,595,641 (GRCm39) |
R216S |
probably benign |
Het |
Hook1 |
A |
G |
4: 95,881,367 (GRCm39) |
D113G |
probably damaging |
Het |
Ift122 |
A |
G |
6: 115,897,340 (GRCm39) |
E914G |
probably damaging |
Het |
Insr |
A |
G |
8: 3,248,059 (GRCm39) |
|
probably null |
Het |
Itpr2 |
A |
T |
6: 146,045,605 (GRCm39) |
|
probably null |
Het |
Myo6 |
C |
T |
9: 80,183,656 (GRCm39) |
Q684* |
probably null |
Het |
Nrde2 |
T |
A |
12: 100,096,756 (GRCm39) |
I1015F |
possibly damaging |
Het |
Or12e9 |
T |
A |
2: 87,202,446 (GRCm39) |
V190E |
probably damaging |
Het |
Or2d4 |
G |
A |
7: 106,544,187 (GRCm39) |
T7I |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pappa |
A |
T |
4: 65,074,076 (GRCm39) |
N210I |
probably damaging |
Het |
Pax4 |
G |
A |
6: 28,445,138 (GRCm39) |
P179L |
probably damaging |
Het |
Pcx |
G |
A |
19: 4,668,532 (GRCm39) |
D656N |
probably damaging |
Het |
Pms1 |
T |
A |
1: 53,245,916 (GRCm39) |
H541L |
probably benign |
Het |
Pten |
C |
T |
19: 32,777,291 (GRCm39) |
P95L |
probably damaging |
Het |
Shc3 |
T |
C |
13: 51,670,601 (GRCm39) |
M49V |
probably damaging |
Het |
Snap91 |
C |
G |
9: 86,697,497 (GRCm39) |
K288N |
probably damaging |
Het |
Spag17 |
C |
T |
3: 99,970,787 (GRCm39) |
Q1324* |
probably null |
Het |
Tasor |
A |
G |
14: 27,151,183 (GRCm39) |
E53G |
probably benign |
Het |
Tfr2 |
A |
G |
5: 137,569,242 (GRCm39) |
|
probably benign |
Het |
Tgfbrap1 |
A |
T |
1: 43,114,803 (GRCm39) |
I99K |
probably damaging |
Het |
Tmem38a |
T |
A |
8: 73,333,878 (GRCm39) |
V119E |
probably damaging |
Het |
Tmtc4 |
T |
G |
14: 123,182,969 (GRCm39) |
D243A |
probably benign |
Het |
Tnc |
A |
T |
4: 63,889,515 (GRCm39) |
S1755T |
probably damaging |
Het |
Trim67 |
T |
C |
8: 125,551,589 (GRCm39) |
S590P |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,590,287 (GRCm39) |
T12814S |
probably damaging |
Het |
Uspl1 |
T |
A |
5: 149,150,923 (GRCm39) |
S708T |
probably benign |
Het |
Vmn2r69 |
A |
T |
7: 85,055,717 (GRCm39) |
F807Y |
probably damaging |
Het |
Vmn2r97 |
C |
T |
17: 19,148,615 (GRCm39) |
P170L |
probably damaging |
Het |
Zfp612 |
C |
T |
8: 110,816,532 (GRCm39) |
Q580* |
probably null |
Het |
|
Other mutations in Rsrc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00646:Rsrc2
|
APN |
5 |
123,877,685 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL03268:Rsrc2
|
APN |
5 |
123,878,790 (GRCm39) |
nonsense |
probably null |
|
PIT4519001:Rsrc2
|
UTSW |
5 |
123,883,135 (GRCm39) |
missense |
unknown |
|
R0254:Rsrc2
|
UTSW |
5 |
123,878,910 (GRCm39) |
utr 5 prime |
probably benign |
|
R2889:Rsrc2
|
UTSW |
5 |
123,874,620 (GRCm39) |
critical splice donor site |
probably benign |
|
R3875:Rsrc2
|
UTSW |
5 |
123,874,691 (GRCm39) |
utr 5 prime |
probably benign |
|
R4914:Rsrc2
|
UTSW |
5 |
123,877,613 (GRCm39) |
utr 5 prime |
probably benign |
|
R5237:Rsrc2
|
UTSW |
5 |
123,877,645 (GRCm39) |
utr 5 prime |
probably benign |
|
R5473:Rsrc2
|
UTSW |
5 |
123,869,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R6263:Rsrc2
|
UTSW |
5 |
123,877,751 (GRCm39) |
start gained |
probably benign |
|
R6657:Rsrc2
|
UTSW |
5 |
123,877,630 (GRCm39) |
utr 5 prime |
probably benign |
|
R6806:Rsrc2
|
UTSW |
5 |
123,877,594 (GRCm39) |
utr 5 prime |
probably benign |
|
R7145:Rsrc2
|
UTSW |
5 |
123,877,630 (GRCm39) |
utr 5 prime |
probably benign |
|
R8894:Rsrc2
|
UTSW |
5 |
123,878,793 (GRCm39) |
missense |
unknown |
|
R9648:Rsrc2
|
UTSW |
5 |
123,877,688 (GRCm39) |
missense |
unknown |
|
R9768:Rsrc2
|
UTSW |
5 |
123,868,561 (GRCm39) |
missense |
probably benign |
0.08 |
X0020:Rsrc2
|
UTSW |
5 |
123,867,286 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCGCTCAAGGCACAGAATC -3'
(R):5'- TTTAATTTCAGGCGCCATCG -3'
Sequencing Primer
(F):5'- AGTATAGTAAAGCACGCTCACTG -3'
(R):5'- CGCCATCGCAGTAGAAGCAG -3'
|
Posted On |
2016-07-06 |