Incidental Mutation 'R2918:Arrdc2'
| ID |
255373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arrdc2
|
| Ensembl Gene |
ENSMUSG00000002910 |
| Gene Name |
arrestin domain containing 2 |
| Synonyms |
4632416I05Rik |
| MMRRC Submission |
040503-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2918 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
71287773-71292364 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 71290171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 170
(R170Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002989]
[ENSMUST00000110078]
[ENSMUST00000110081]
[ENSMUST00000212405]
|
| AlphaFold |
Q9D668 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002989
AA Change: R170Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000002989
Gene: ENSMUSG00000002910
AA Change: R170Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
9 |
158 |
2.9e-43 |
PFAM |
|
Arrestin_C
|
180 |
307 |
2.14e-28 |
SMART |
|
low complexity region
|
311 |
322 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110078
|
| SMART Domains |
Protein: ENSMUSP00000105705
Gene: ENSMUSG00000002908
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
76 |
N/A |
INTRINSIC |
|
Pfam:SK_channel
|
90 |
208 |
3.7e-59 |
PFAM |
|
low complexity region
|
234 |
245 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_2
|
275 |
369 |
9.6e-16 |
PFAM |
|
CaMBD
|
382 |
461 |
1.99e-46 |
SMART |
|
low complexity region
|
467 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
516 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110081
|
| SMART Domains |
Protein: ENSMUSP00000105708
Gene: ENSMUSG00000002908
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
76 |
N/A |
INTRINSIC |
|
Pfam:SK_channel
|
90 |
203 |
4.9e-51 |
PFAM |
|
low complexity region
|
234 |
245 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_2
|
274 |
368 |
1.7e-15 |
PFAM |
|
CaMBD
|
382 |
462 |
3.71e-46 |
SMART |
|
low complexity region
|
468 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
517 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212405
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212508
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212770
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212855
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212898
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213095
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd5 |
A |
G |
2: 22,989,579 (GRCm39) |
N401D |
probably benign |
Het |
| Agtpbp1 |
T |
A |
13: 59,644,829 (GRCm39) |
D679V |
possibly damaging |
Het |
| Akap8 |
A |
G |
17: 32,524,622 (GRCm39) |
V558A |
probably benign |
Het |
| Atg10 |
A |
T |
13: 91,189,027 (GRCm39) |
H94Q |
probably damaging |
Het |
| Atg4a-ps |
G |
A |
3: 103,552,837 (GRCm39) |
A168V |
probably damaging |
Het |
| Crb2 |
G |
T |
2: 37,673,395 (GRCm39) |
R97L |
probably benign |
Het |
| Dnaja1 |
C |
T |
4: 40,724,052 (GRCm39) |
A71V |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| G6pd2 |
A |
G |
5: 61,966,869 (GRCm39) |
R215G |
probably damaging |
Het |
| Hcn3 |
A |
G |
3: 89,054,920 (GRCm39) |
S776P |
probably benign |
Het |
| Ift140 |
C |
A |
17: 25,254,805 (GRCm39) |
N159K |
possibly damaging |
Het |
| Mafa |
A |
G |
15: 75,619,147 (GRCm39) |
S209P |
probably benign |
Het |
| Mug2 |
A |
G |
6: 122,051,683 (GRCm39) |
|
probably null |
Het |
| Myh14 |
T |
C |
7: 44,265,687 (GRCm39) |
D1564G |
possibly damaging |
Het |
| Ncor2 |
T |
A |
5: 125,102,824 (GRCm39) |
I1792F |
probably damaging |
Het |
| Nod2 |
T |
C |
8: 89,379,519 (GRCm39) |
F7L |
probably benign |
Het |
| Odad2 |
G |
A |
18: 7,222,625 (GRCm39) |
S548L |
probably benign |
Het |
| Or10d5 |
A |
G |
9: 39,861,660 (GRCm39) |
S136P |
probably benign |
Het |
| Or1m1 |
T |
A |
9: 18,666,775 (GRCm39) |
D52V |
probably damaging |
Het |
| Or2aa1 |
T |
C |
11: 59,480,265 (GRCm39) |
T217A |
probably benign |
Het |
| Pak3 |
T |
C |
X: 142,547,972 (GRCm39) |
V318A |
probably damaging |
Het |
| Pik3ap1 |
T |
C |
19: 41,290,970 (GRCm39) |
T521A |
probably benign |
Het |
| Pkdcc |
G |
C |
17: 83,523,378 (GRCm39) |
A162P |
probably benign |
Het |
| Rassf4 |
A |
G |
6: 116,618,701 (GRCm39) |
V194A |
probably damaging |
Het |
| Scp2d1 |
T |
A |
2: 144,665,868 (GRCm39) |
I69N |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 121,905,782 (GRCm39) |
S1288P |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,645,532 (GRCm39) |
S2019P |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,021,004 (GRCm39) |
L630* |
probably null |
Het |
| Trim41 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCCTCCTCC |
11: 48,707,084 (GRCm39) |
|
probably benign |
Het |
| Trpc1 |
C |
T |
9: 95,605,182 (GRCm39) |
R159H |
probably damaging |
Het |
| Zbtb14 |
C |
T |
17: 69,695,214 (GRCm39) |
P304L |
probably damaging |
Het |
|
| Other mutations in Arrdc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02376:Arrdc2
|
APN |
8 |
71,291,623 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1593:Arrdc2
|
UTSW |
8 |
71,289,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4179:Arrdc2
|
UTSW |
8 |
71,289,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Arrdc2
|
UTSW |
8 |
71,291,921 (GRCm39) |
splice site |
probably null |
|
|
R4974:Arrdc2
|
UTSW |
8 |
71,290,162 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6851:Arrdc2
|
UTSW |
8 |
71,291,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7827:Arrdc2
|
UTSW |
8 |
71,292,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8035:Arrdc2
|
UTSW |
8 |
71,292,026 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8493:Arrdc2
|
UTSW |
8 |
71,289,501 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9269:Arrdc2
|
UTSW |
8 |
71,288,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9413:Arrdc2
|
UTSW |
8 |
71,288,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0012:Arrdc2
|
UTSW |
8 |
71,289,986 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGCAAAGATAGGGATGACC -3'
(R):5'- AACTTTTGGCTTCCTAAGATAGGG -3'
Sequencing Primer
(F):5'- GATGACCTCGCCTACAGCAG -3'
(R):5'- CAGCCTGGTCTACAAAGTGAGTTC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation