Incidental Mutation 'R2430:Arc'
| ID |
250384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arc
|
| Ensembl Gene |
ENSMUSG00000022602 |
| Gene Name |
activity regulated cytoskeletal-associated protein |
| Synonyms |
arg 3.1, Arc3.1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2430 (G1)
|
| Quality Score |
116 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
74540932-74544419 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74543740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 161
(E161G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023268]
[ENSMUST00000110009]
|
| AlphaFold |
Q9WV31 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023268
AA Change: E161G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110009
AA Change: E161G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous deletion of this gene results in embryonic lethality around E6.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ass1 |
A |
G |
2: 31,391,508 (GRCm39) |
H261R |
probably damaging |
Het |
| Car11 |
T |
A |
7: 45,353,072 (GRCm39) |
|
probably null |
Het |
| Crebbp |
T |
C |
16: 3,914,329 (GRCm39) |
H844R |
probably damaging |
Het |
| Dnai2 |
A |
G |
11: 114,648,012 (GRCm39) |
|
probably benign |
Het |
| Eya2 |
T |
C |
2: 165,558,050 (GRCm39) |
|
probably null |
Het |
| Klhl40 |
A |
G |
9: 121,609,667 (GRCm39) |
D484G |
possibly damaging |
Het |
| Knstrn |
A |
G |
2: 118,664,584 (GRCm39) |
|
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,842,494 (GRCm39) |
S1838P |
probably damaging |
Het |
| Nipsnap2 |
A |
G |
5: 129,821,855 (GRCm39) |
D117G |
possibly damaging |
Het |
| Nudt15 |
C |
T |
14: 73,762,742 (GRCm39) |
|
probably benign |
Het |
| Or5w16 |
T |
A |
2: 87,576,999 (GRCm39) |
M153K |
possibly damaging |
Het |
| Or8k35 |
A |
G |
2: 86,425,052 (GRCm39) |
I40T |
probably benign |
Het |
| Pcdh20 |
T |
C |
14: 88,704,984 (GRCm39) |
D772G |
probably damaging |
Het |
| Pdss1 |
T |
A |
2: 22,819,605 (GRCm39) |
Y289* |
probably null |
Het |
| Phc2 |
A |
T |
4: 128,601,776 (GRCm39) |
Y77F |
probably damaging |
Het |
| Ppip5k2 |
A |
T |
1: 97,662,755 (GRCm39) |
Y667N |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,859,733 (GRCm39) |
S1186P |
possibly damaging |
Het |
| Prr36 |
A |
T |
8: 4,263,488 (GRCm39) |
|
probably benign |
Het |
| Reck |
C |
T |
4: 43,930,202 (GRCm39) |
T592I |
possibly damaging |
Het |
| Rprd2 |
T |
A |
3: 95,672,107 (GRCm39) |
K1015* |
probably null |
Het |
| Tfrc |
T |
G |
16: 32,445,529 (GRCm39) |
Y617D |
probably damaging |
Het |
| Tnfsf11 |
A |
C |
14: 78,521,752 (GRCm39) |
D152E |
probably benign |
Het |
| Vmn2r54 |
T |
A |
7: 12,365,933 (GRCm39) |
I334F |
probably damaging |
Het |
|
| Other mutations in Arc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01778:Arc
|
APN |
15 |
74,544,204 (GRCm39) |
missense |
probably benign |
|
|
IGL02372:Arc
|
APN |
15 |
74,543,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03209:Arc
|
APN |
15 |
74,543,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0040:Arc
|
UTSW |
15 |
74,543,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0732:Arc
|
UTSW |
15 |
74,543,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1377:Arc
|
UTSW |
15 |
74,544,101 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4647:Arc
|
UTSW |
15 |
74,543,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4855:Arc
|
UTSW |
15 |
74,543,592 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6436:Arc
|
UTSW |
15 |
74,544,098 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6743:Arc
|
UTSW |
15 |
74,543,636 (GRCm39) |
missense |
probably benign |
|
|
R8678:Arc
|
UTSW |
15 |
74,543,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9041:Arc
|
UTSW |
15 |
74,543,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9070:Arc
|
UTSW |
15 |
74,543,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9184:Arc
|
UTSW |
15 |
74,543,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9428:Arc
|
UTSW |
15 |
74,543,063 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF003:Arc
|
UTSW |
15 |
74,543,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTCTTCCAGGTGGCTCAG -3'
(R):5'- GTCCATCAAGGCCTGTCTTTG -3'
Sequencing Primer
(F):5'- TTCCAGGTGGCTCAGGAACTC -3'
(R):5'- GAGACCATCGCCAACCTGGAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation