Incidental Mutation 'R4529:Ankrd2'
| ID |
333060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd2
|
| Ensembl Gene |
ENSMUSG00000025172 |
| Gene Name |
ankyrin repeat domain 2 |
| Synonyms |
Arpp, mArpp |
| MMRRC Submission |
041592-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4529 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
42024439-42033549 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42032240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 231
(I231F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026172]
[ENSMUST00000081714]
[ENSMUST00000172244]
|
| AlphaFold |
Q9WV06 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026172
AA Change: I231F
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000026172
Gene: ENSMUSG00000025172
AA Change: I231F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
111 |
N/A |
INTRINSIC |
|
ANK
|
149 |
178 |
5.24e-4 |
SMART |
|
ANK
|
182 |
211 |
5.79e-6 |
SMART |
|
ANK
|
215 |
244 |
1.33e-5 |
SMART |
|
ANK
|
248 |
277 |
3.18e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081714
|
| SMART Domains |
Protein: ENSMUSP00000080414
Gene: ENSMUSG00000025176
| Domain | Start | End | E-Value | Type |
|---|
|
DHDPS
|
28 |
319 |
8.34e-81 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167381
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168414
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172244
|
| SMART Domains |
Protein: ENSMUSP00000126037
Gene: ENSMUSG00000025176
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DHDPS
|
57 |
156 |
5.8e-11 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a null allele are viable, fertile and free of cardiac defects but exhibit altered inflammatory responses and are prone to skeletal muscle fiber-type switching of slow fibers toward a faster phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
A |
G |
17: 57,727,519 (GRCm39) |
Y483C |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
| Aldh1a3 |
T |
C |
7: 66,051,742 (GRCm39) |
N404D |
probably benign |
Het |
| Apba1 |
A |
G |
19: 23,913,899 (GRCm39) |
N641D |
probably damaging |
Het |
| C1qbp |
T |
C |
11: 70,869,550 (GRCm39) |
T178A |
probably benign |
Het |
| Chtf18 |
T |
C |
17: 25,939,592 (GRCm39) |
Y64C |
probably damaging |
Het |
| Cyp1a1 |
A |
G |
9: 57,608,962 (GRCm39) |
H281R |
probably benign |
Het |
| Ehmt2 |
A |
G |
17: 35,132,707 (GRCm39) |
I1235V |
probably damaging |
Het |
| Fcamr |
A |
G |
1: 130,732,313 (GRCm39) |
H44R |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,747 (GRCm39) |
Y582C |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,921 (GRCm39) |
N524S |
possibly damaging |
Het |
| Gm5460 |
A |
C |
14: 33,767,769 (GRCm39) |
D459A |
probably damaging |
Het |
| H2-Q6 |
C |
T |
17: 35,644,820 (GRCm39) |
T203I |
probably null |
Het |
| Inmt |
T |
C |
6: 55,148,012 (GRCm39) |
M206V |
probably benign |
Het |
| Khdc3 |
T |
C |
9: 73,011,301 (GRCm39) |
S360P |
possibly damaging |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Ltbp1 |
T |
G |
17: 75,458,355 (GRCm39) |
V312G |
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,270,832 (GRCm39) |
L899P |
probably damaging |
Het |
| Or6c1b |
T |
C |
10: 129,273,287 (GRCm39) |
V202A |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pappa |
A |
G |
4: 65,149,419 (GRCm39) |
I920V |
probably benign |
Het |
| Parp1 |
T |
A |
1: 180,418,877 (GRCm39) |
V679E |
probably damaging |
Het |
| Pla2g4f |
C |
T |
2: 120,131,100 (GRCm39) |
R785Q |
probably damaging |
Het |
| Plbd1 |
T |
A |
6: 136,628,823 (GRCm39) |
I82F |
probably benign |
Het |
| Plekhm3 |
A |
G |
1: 64,976,984 (GRCm39) |
V162A |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,411,274 (GRCm39) |
L919P |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,473,831 (GRCm39) |
|
probably null |
Het |
| Pou3f3 |
C |
A |
1: 42,737,714 (GRCm39) |
T470K |
probably benign |
Het |
| Prss38 |
T |
C |
11: 59,264,325 (GRCm39) |
Y214C |
probably damaging |
Het |
| Retreg1 |
T |
A |
15: 25,968,600 (GRCm39) |
Y109N |
probably damaging |
Het |
| Slco1c1 |
A |
G |
6: 141,500,907 (GRCm39) |
Y413C |
probably damaging |
Het |
| Stk32a |
T |
C |
18: 43,376,044 (GRCm39) |
C38R |
possibly damaging |
Het |
| Themis |
T |
C |
10: 28,658,331 (GRCm39) |
F453L |
possibly damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Tubgcp3 |
G |
T |
8: 12,713,932 (GRCm39) |
L62I |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Xpo7 |
G |
A |
14: 70,906,188 (GRCm39) |
T986M |
probably damaging |
Het |
| Zfp51 |
C |
T |
17: 21,684,998 (GRCm39) |
L538F |
probably damaging |
Het |
| Zfy1 |
A |
G |
Y: 726,511 (GRCm39) |
L418S |
possibly damaging |
Het |
|
| Other mutations in Ankrd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01529:Ankrd2
|
APN |
19 |
42,028,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03088:Ankrd2
|
APN |
19 |
42,030,424 (GRCm39) |
missense |
probably null |
0.01 |
|
IGL03050:Ankrd2
|
UTSW |
19 |
42,028,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0133:Ankrd2
|
UTSW |
19 |
42,032,510 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0930:Ankrd2
|
UTSW |
19 |
42,032,292 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2135:Ankrd2
|
UTSW |
19 |
42,032,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2204:Ankrd2
|
UTSW |
19 |
42,032,558 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2205:Ankrd2
|
UTSW |
19 |
42,032,558 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4833:Ankrd2
|
UTSW |
19 |
42,032,296 (GRCm39) |
splice site |
probably null |
|
|
R5112:Ankrd2
|
UTSW |
19 |
42,028,326 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6005:Ankrd2
|
UTSW |
19 |
42,028,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6146:Ankrd2
|
UTSW |
19 |
42,028,544 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7382:Ankrd2
|
UTSW |
19 |
42,033,411 (GRCm39) |
missense |
|
|
|
R7556:Ankrd2
|
UTSW |
19 |
42,028,839 (GRCm39) |
missense |
|
|
|
R8485:Ankrd2
|
UTSW |
19 |
42,030,384 (GRCm39) |
splice site |
probably null |
|
|
R9200:Ankrd2
|
UTSW |
19 |
42,028,871 (GRCm39) |
missense |
|
|
|
R9786:Ankrd2
|
UTSW |
19 |
42,033,358 (GRCm39) |
missense |
|
|
|
X0063:Ankrd2
|
UTSW |
19 |
42,030,842 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Ankrd2
|
UTSW |
19 |
42,033,438 (GRCm39) |
missense |
|
|
|
Z1177:Ankrd2
|
UTSW |
19 |
42,028,598 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCTGTACGATCAGGCAAC -3'
(R):5'- GGCTAAAGACCTTGCTCAGAAG -3'
Sequencing Primer
(F):5'- GGTATGTTGGACCATTCTCTCCTG -3'
(R):5'- TCAGAAGCAGACACCCTAGGG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation