Incidental Mutation 'R5513:Ano2'
| ID |
440177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano2
|
| Ensembl Gene |
ENSMUSG00000038115 |
| Gene Name |
anoctamin 2 |
| Synonyms |
Tmem16b |
| MMRRC Submission |
043073-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R5513 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
125667382-126017089 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 126016285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 939
(K939N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159984]
[ENSMUST00000160496]
|
| AlphaFold |
Q8CFW1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159984
|
| SMART Domains |
Protein: ENSMUSP00000123965
Gene: ENSMUSG00000038115
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
21 |
181 |
1.7e-41 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160496
AA Change: K939N
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125303
Gene: ENSMUSG00000038115
AA Change: K939N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
69 |
N/A |
INTRINSIC |
|
Pfam:Anoct_dimer
|
91 |
348 |
5.7e-78 |
PFAM |
|
Pfam:Anoctamin
|
351 |
941 |
6.7e-138 |
PFAM |
|
low complexity region
|
964 |
991 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161619
|
| SMART Domains |
Protein: ENSMUSP00000125426
Gene: ENSMUSG00000038115
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
74 |
N/A |
INTRINSIC |
|
Pfam:Anoctamin
|
262 |
425 |
1.9e-39 |
PFAM |
|
| Meta Mutation Damage Score |
0.0876 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (59/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele lack calcium-activated chloride currents in the main olfactory epithelium and vomeronasal organ but normal olfaction in behavioral tasks. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
T |
2: 103,539,623 (GRCm39) |
|
probably null |
Het |
| Akr1b1 |
C |
A |
6: 34,293,581 (GRCm39) |
|
probably benign |
Het |
| Alppl2 |
T |
A |
1: 87,015,060 (GRCm39) |
N434Y |
probably benign |
Het |
| Ampd2 |
A |
G |
3: 107,982,983 (GRCm39) |
I648T |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,619,259 (GRCm39) |
E1510G |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,249,273 (GRCm39) |
Y8C |
probably damaging |
Het |
| Aspm |
A |
T |
1: 139,410,136 (GRCm39) |
I2609F |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,208,601 (GRCm39) |
S964T |
probably benign |
Het |
| Cd22 |
C |
T |
7: 30,566,450 (GRCm39) |
R823Q |
probably damaging |
Het |
| Cd74 |
T |
C |
18: 60,944,377 (GRCm39) |
C196R |
probably damaging |
Het |
| Cfap73 |
A |
T |
5: 120,769,777 (GRCm39) |
I82N |
probably damaging |
Het |
| Cidec |
A |
T |
6: 113,405,140 (GRCm39) |
Y177N |
probably damaging |
Het |
| Crb1 |
C |
T |
1: 139,164,559 (GRCm39) |
|
probably null |
Het |
| Cts7 |
T |
C |
13: 61,503,398 (GRCm39) |
K189E |
possibly damaging |
Het |
| Cyp2c68 |
A |
T |
19: 39,691,850 (GRCm39) |
Y358N |
probably damaging |
Het |
| Dab2ip |
A |
T |
2: 35,600,266 (GRCm39) |
H294L |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,167,402 (GRCm39) |
D502G |
probably null |
Het |
| Dnah8 |
T |
A |
17: 30,971,890 (GRCm39) |
M2768K |
probably damaging |
Het |
| Etl4 |
C |
A |
2: 20,748,638 (GRCm39) |
S405R |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,781,252 (GRCm39) |
L19F |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,815,542 (GRCm39) |
N3758K |
possibly damaging |
Het |
| Fsip2 |
C |
G |
2: 82,781,256 (GRCm39) |
Q217E |
probably benign |
Het |
| Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
| Hivep2 |
A |
T |
10: 14,008,417 (GRCm39) |
K1672* |
probably null |
Het |
| Igkv2-137 |
G |
A |
6: 67,532,998 (GRCm39) |
G54S |
possibly damaging |
Het |
| Ints8 |
A |
G |
4: 11,248,303 (GRCm39) |
V105A |
possibly damaging |
Het |
| Lrba |
C |
T |
3: 86,449,948 (GRCm39) |
S2089F |
probably damaging |
Het |
| Lrrc8b |
A |
G |
5: 105,633,850 (GRCm39) |
K774R |
probably damaging |
Het |
| Mcm4 |
T |
A |
16: 15,448,378 (GRCm39) |
Y393F |
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,309,479 (GRCm39) |
L324P |
probably damaging |
Het |
| Or4d6 |
A |
G |
19: 12,086,745 (GRCm39) |
L55P |
probably damaging |
Het |
| Or52n3 |
A |
T |
7: 104,530,706 (GRCm39) |
H264L |
probably damaging |
Het |
| Or5a3 |
G |
A |
19: 12,400,047 (GRCm39) |
V125I |
probably benign |
Het |
| Or9s13 |
T |
C |
1: 92,548,102 (GRCm39) |
V158A |
probably benign |
Het |
| Pld4 |
A |
G |
12: 112,728,988 (GRCm39) |
E19G |
probably benign |
Het |
| Plvap |
T |
C |
8: 71,964,173 (GRCm39) |
E63G |
probably damaging |
Het |
| Ppig |
A |
G |
2: 69,580,703 (GRCm39) |
T746A |
probably benign |
Het |
| Prdm2 |
GCTCCTCCTCCTCCTCCTCCTCCTC |
GCTCCTCCTCCTCCTCCTCCTC |
4: 142,862,463 (GRCm39) |
|
probably benign |
Het |
| Rbm15b |
A |
G |
9: 106,763,316 (GRCm39) |
L284P |
probably benign |
Het |
| Relch |
G |
A |
1: 105,678,698 (GRCm39) |
V1130I |
probably damaging |
Het |
| Rhbdl3 |
T |
C |
11: 80,222,668 (GRCm39) |
V239A |
probably damaging |
Het |
| Sae1 |
T |
C |
7: 16,100,781 (GRCm39) |
E197G |
probably benign |
Het |
| Sdhaf2 |
C |
T |
19: 10,494,394 (GRCm39) |
R105H |
probably damaging |
Het |
| Senp3 |
T |
C |
11: 69,567,965 (GRCm39) |
D425G |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc46a1 |
T |
C |
11: 78,357,376 (GRCm39) |
F143S |
probably benign |
Het |
| Tom1 |
T |
A |
8: 75,783,848 (GRCm39) |
N52K |
probably damaging |
Het |
| Vmn1r11 |
A |
T |
6: 57,114,617 (GRCm39) |
T94S |
probably damaging |
Het |
| Zfp236 |
A |
G |
18: 82,676,147 (GRCm39) |
I390T |
probably damaging |
Het |
| Zfp709 |
A |
T |
8: 72,643,900 (GRCm39) |
H443L |
probably damaging |
Het |
| Zfp960 |
C |
T |
17: 17,307,996 (GRCm39) |
P237S |
possibly damaging |
Het |
|
| Other mutations in Ano2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00766:Ano2
|
APN |
6 |
125,990,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01387:Ano2
|
APN |
6 |
125,990,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01772:Ano2
|
APN |
6 |
126,013,821 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01931:Ano2
|
APN |
6 |
125,959,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02066:Ano2
|
APN |
6 |
125,667,702 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02410:Ano2
|
APN |
6 |
125,792,496 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02526:Ano2
|
APN |
6 |
125,849,714 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03116:Ano2
|
APN |
6 |
125,957,134 (GRCm39) |
nonsense |
probably null |
|
|
IGL03183:Ano2
|
APN |
6 |
125,687,592 (GRCm39) |
missense |
probably benign |
|
|
IGL03391:Ano2
|
APN |
6 |
125,784,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0257:Ano2
|
UTSW |
6 |
125,857,676 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0462:Ano2
|
UTSW |
6 |
125,689,238 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0594:Ano2
|
UTSW |
6 |
125,959,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1072:Ano2
|
UTSW |
6 |
126,016,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1099:Ano2
|
UTSW |
6 |
125,784,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1436:Ano2
|
UTSW |
6 |
125,844,134 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1468:Ano2
|
UTSW |
6 |
125,773,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Ano2
|
UTSW |
6 |
125,773,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Ano2
|
UTSW |
6 |
125,840,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1901:Ano2
|
UTSW |
6 |
125,849,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Ano2
|
UTSW |
6 |
125,849,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1911:Ano2
|
UTSW |
6 |
125,990,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2040:Ano2
|
UTSW |
6 |
126,016,471 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2192:Ano2
|
UTSW |
6 |
125,992,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2307:Ano2
|
UTSW |
6 |
125,969,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2698:Ano2
|
UTSW |
6 |
125,689,309 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2878:Ano2
|
UTSW |
6 |
125,840,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3151:Ano2
|
UTSW |
6 |
125,990,280 (GRCm39) |
splice site |
probably null |
|
|
R4004:Ano2
|
UTSW |
6 |
125,990,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4664:Ano2
|
UTSW |
6 |
125,840,501 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4684:Ano2
|
UTSW |
6 |
125,767,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4685:Ano2
|
UTSW |
6 |
125,957,087 (GRCm39) |
nonsense |
probably null |
|
|
R4686:Ano2
|
UTSW |
6 |
125,767,254 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4852:Ano2
|
UTSW |
6 |
125,959,886 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4923:Ano2
|
UTSW |
6 |
125,880,018 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5488:Ano2
|
UTSW |
6 |
126,016,216 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5699:Ano2
|
UTSW |
6 |
125,849,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5876:Ano2
|
UTSW |
6 |
126,016,242 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6175:Ano2
|
UTSW |
6 |
125,969,918 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6219:Ano2
|
UTSW |
6 |
125,792,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6613:Ano2
|
UTSW |
6 |
125,783,619 (GRCm39) |
splice site |
probably null |
|
|
R6711:Ano2
|
UTSW |
6 |
125,752,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6982:Ano2
|
UTSW |
6 |
125,969,856 (GRCm39) |
missense |
probably benign |
|
|
R7153:Ano2
|
UTSW |
6 |
125,969,906 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7182:Ano2
|
UTSW |
6 |
125,767,256 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7312:Ano2
|
UTSW |
6 |
126,016,460 (GRCm39) |
nonsense |
probably null |
|
|
R7358:Ano2
|
UTSW |
6 |
125,687,696 (GRCm39) |
missense |
probably benign |
|
|
R7456:Ano2
|
UTSW |
6 |
125,940,508 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7532:Ano2
|
UTSW |
6 |
125,940,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7607:Ano2
|
UTSW |
6 |
125,689,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7623:Ano2
|
UTSW |
6 |
125,992,536 (GRCm39) |
nonsense |
probably null |
|
|
R7690:Ano2
|
UTSW |
6 |
125,990,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8273:Ano2
|
UTSW |
6 |
125,959,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8389:Ano2
|
UTSW |
6 |
125,957,132 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8392:Ano2
|
UTSW |
6 |
125,857,698 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8479:Ano2
|
UTSW |
6 |
125,689,123 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8488:Ano2
|
UTSW |
6 |
125,957,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8746:Ano2
|
UTSW |
6 |
125,840,513 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9136:Ano2
|
UTSW |
6 |
125,959,962 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9680:Ano2
|
UTSW |
6 |
125,857,382 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9752:Ano2
|
UTSW |
6 |
125,840,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ano2
|
UTSW |
6 |
125,840,416 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Ano2
|
UTSW |
6 |
125,687,670 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Ano2
|
UTSW |
6 |
125,992,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ano2
|
UTSW |
6 |
125,990,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCAGCACCGGGATAGTC -3'
(R):5'- TACATTGGTGTGCTGGGACC -3'
Sequencing Primer
(F):5'- CTCCGAAGAGGTCAAGGTG -3'
(R):5'- ACCCTGAGGATGCTATGCTG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation