Incidental Mutation 'R3875:Rsrc2'
ID |
276784 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rsrc2
|
Ensembl Gene |
ENSMUSG00000029422 |
Gene Name |
arginine/serine-rich coiled-coil 2 |
Synonyms |
1500011J06Rik |
MMRRC Submission |
068967-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.932)
|
Stock # |
R3875 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
123866489-123887477 bp(-) (GRCm39) |
Type of Mutation |
utr 5 prime |
DNA Base Change (assembly) |
C to T
at 123874691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138301
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050827]
[ENSMUST00000057795]
[ENSMUST00000111515]
[ENSMUST00000182015]
[ENSMUST00000182093]
[ENSMUST00000182489]
[ENSMUST00000182556]
[ENSMUST00000182309]
[ENSMUST00000182241]
[ENSMUST00000182955]
[ENSMUST00000182411]
[ENSMUST00000183147]
|
AlphaFold |
A2RTL5 |
Predicted Effect |
unknown
Transcript: ENSMUST00000050827
AA Change: R160Q
|
SMART Domains |
Protein: ENSMUSP00000050563 Gene: ENSMUSG00000029422 AA Change: R160Q
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 |
unknown
Transcript: ENSMUST00000057795
AA Change: R160Q
|
SMART Domains |
Protein: ENSMUSP00000049942 Gene: ENSMUSG00000029422 AA Change: R160Q
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 |
unknown
Transcript: ENSMUST00000111515
AA Change: R160Q
|
SMART Domains |
Protein: ENSMUSP00000107140 Gene: ENSMUSG00000029422 AA Change: R160Q
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 |
unknown
Transcript: ENSMUST00000182489
AA Change: R171Q
|
SMART Domains |
Protein: ENSMUSP00000138518 Gene: ENSMUSG00000029422 AA Change: R171Q
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 |
unknown
Transcript: ENSMUST00000182556
AA Change: R160Q
|
SMART Domains |
Protein: ENSMUSP00000138631 Gene: ENSMUSG00000029422 AA Change: R160Q
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: ENSMUST00000182744
|
Predicted Effect |
unknown
Transcript: ENSMUST00000182309
AA Change: R218Q
|
SMART Domains |
Protein: ENSMUSP00000138691 Gene: ENSMUSG00000029422 AA Change: R218Q
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 |
noncoding transcript
Transcript: ENSMUST00000182968
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182948
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182809
|
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 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 |
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: ENSMUST00000182861
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182584
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182985
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183147
|
Meta Mutation Damage Score |
0.0806 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
T |
C |
2: 152,276,000 (GRCm39) |
S72P |
probably benign |
Het |
Abca5 |
T |
A |
11: 110,201,059 (GRCm39) |
Y447F |
probably damaging |
Het |
Adgrg2 |
A |
G |
X: 159,261,992 (GRCm39) |
S337G |
probably benign |
Het |
Akap12 |
G |
A |
10: 4,307,590 (GRCm39) |
V1467I |
probably benign |
Het |
Baz2a |
T |
A |
10: 127,959,979 (GRCm39) |
M1419K |
probably damaging |
Het |
Cacna1g |
G |
A |
11: 94,328,749 (GRCm39) |
T1033I |
probably damaging |
Het |
Car12 |
C |
A |
9: 66,624,834 (GRCm39) |
|
probably benign |
Het |
Cpne1 |
G |
A |
2: 155,918,202 (GRCm39) |
H352Y |
probably damaging |
Het |
D630039A03Rik |
T |
A |
4: 57,910,606 (GRCm39) |
T69S |
probably benign |
Het |
Dhodh |
T |
C |
8: 110,321,592 (GRCm39) |
D310G |
probably null |
Het |
Dnah2 |
A |
G |
11: 69,320,174 (GRCm39) |
I3965T |
probably damaging |
Het |
Drd5 |
T |
G |
5: 38,477,157 (GRCm39) |
V50G |
possibly damaging |
Het |
Dst |
C |
A |
1: 34,210,328 (GRCm39) |
H934Q |
probably damaging |
Het |
Eif1ad10 |
T |
C |
12: 88,216,476 (GRCm39) |
D132G |
unknown |
Het |
Far2 |
G |
A |
6: 148,052,089 (GRCm39) |
E123K |
probably benign |
Het |
Fbxo43 |
A |
T |
15: 36,162,249 (GRCm39) |
F319L |
probably benign |
Het |
Flii |
T |
C |
11: 60,611,318 (GRCm39) |
S418G |
probably benign |
Het |
Glyctk |
T |
A |
9: 106,034,820 (GRCm39) |
Y82F |
probably damaging |
Het |
Gm11353 |
G |
T |
13: 26,676,651 (GRCm39) |
|
noncoding transcript |
Het |
Gm6505 |
T |
A |
3: 28,819,286 (GRCm39) |
|
noncoding transcript |
Het |
Gpr151 |
A |
G |
18: 42,711,661 (GRCm39) |
V339A |
probably benign |
Het |
H2-T22 |
T |
C |
17: 36,351,195 (GRCm39) |
I296V |
probably benign |
Het |
Igfn1 |
T |
C |
1: 135,882,352 (GRCm39) |
N2831S |
probably damaging |
Het |
Igkv13-85 |
A |
G |
6: 68,907,484 (GRCm39) |
V39A |
probably damaging |
Het |
Irx5 |
A |
G |
8: 93,086,793 (GRCm39) |
T242A |
probably benign |
Het |
Krt26 |
T |
C |
11: 99,225,570 (GRCm39) |
K304E |
probably damaging |
Het |
Mcoln1 |
A |
G |
8: 3,558,355 (GRCm39) |
D203G |
probably benign |
Het |
Mlph |
T |
C |
1: 90,855,844 (GRCm39) |
C57R |
probably damaging |
Het |
Myh13 |
C |
A |
11: 67,249,020 (GRCm39) |
H1275Q |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,233,758 (GRCm39) |
|
probably benign |
Het |
Orc5 |
T |
A |
5: 22,742,564 (GRCm39) |
M115L |
probably benign |
Het |
Pcdha6 |
T |
A |
18: 37,101,119 (GRCm39) |
I104N |
probably damaging |
Het |
Plcb4 |
T |
C |
2: 135,844,552 (GRCm39) |
S157P |
probably damaging |
Het |
Polq |
A |
G |
16: 36,894,389 (GRCm39) |
D1787G |
probably damaging |
Het |
Prkar2b |
T |
G |
12: 32,015,122 (GRCm39) |
I142L |
probably benign |
Het |
Ptprq |
A |
G |
10: 107,520,965 (GRCm39) |
S736P |
possibly damaging |
Het |
Qrich2 |
A |
T |
11: 116,336,477 (GRCm39) |
V2046D |
probably damaging |
Het |
Rad21 |
A |
T |
15: 51,833,361 (GRCm39) |
F373I |
probably damaging |
Het |
Rcvrn |
A |
G |
11: 67,590,880 (GRCm39) |
I155V |
probably benign |
Het |
Sgsh |
A |
G |
11: 119,241,773 (GRCm39) |
L111P |
probably damaging |
Het |
Ssc5d |
A |
T |
7: 4,930,261 (GRCm39) |
D114V |
probably damaging |
Het |
St6gal2 |
C |
A |
17: 55,789,698 (GRCm39) |
P244Q |
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,165,538 (GRCm39) |
|
probably benign |
Het |
Tmem221 |
T |
C |
8: 72,008,399 (GRCm39) |
|
probably null |
Het |
Trh |
A |
T |
6: 92,220,679 (GRCm39) |
V61E |
possibly damaging |
Het |
Trim32 |
A |
T |
4: 65,531,703 (GRCm39) |
I87F |
possibly damaging |
Het |
Tti2 |
A |
G |
8: 31,641,175 (GRCm39) |
K100E |
probably benign |
Het |
Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
Vps13d |
A |
G |
4: 144,917,114 (GRCm39) |
Y17H |
probably damaging |
Het |
Zfp106 |
T |
C |
2: 120,365,094 (GRCm39) |
K438E |
probably benign |
Het |
Zfp60 |
T |
C |
7: 27,449,006 (GRCm39) |
I558T |
probably damaging |
Het |
Zzef1 |
A |
C |
11: 72,779,866 (GRCm39) |
I1880L |
probably benign |
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 |
|
R4914:Rsrc2
|
UTSW |
5 |
123,877,613 (GRCm39) |
utr 5 prime |
probably benign |
|
R5200:Rsrc2
|
UTSW |
5 |
123,877,562 (GRCm39) |
nonsense |
probably null |
|
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'- AATGTCAGTCTTCTTGAATGTGC -3'
(R):5'- CCAGCTATAGCATGGGTGTTG -3'
Sequencing Primer
(F):5'- CTTGAATGTGCAAATTAAAAACCGGC -3'
(R):5'- CCAGCTATAGCATGGGTGTTGTTAAC -3'
|
Posted On |
2015-04-06 |