Incidental Mutation 'R8273:Ano2'
| ID |
637842 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano2
|
| Ensembl Gene |
ENSMUSG00000038115 |
| Gene Name |
anoctamin 2 |
| Synonyms |
Tmem16b |
| MMRRC Submission |
067696-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R8273 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
125667382-126017089 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 125959683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 648
(V648M)
|
| 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 |
probably damaging
Transcript: ENSMUST00000160496
AA Change: V648M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125303
Gene: ENSMUSG00000038115
AA Change: V648M
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (62/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,772,211 (GRCm39) |
V467I |
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,575,668 (GRCm39) |
G167E |
probably damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,112,990 (GRCm39) |
C954R |
unknown |
Het |
| Atp13a4 |
T |
G |
16: 29,290,720 (GRCm39) |
Y243S |
|
Het |
| Bend3 |
T |
G |
10: 43,386,899 (GRCm39) |
C431G |
probably damaging |
Het |
| Ccdc57 |
G |
A |
11: 120,812,599 (GRCm39) |
R52C |
probably damaging |
Het |
| Ccl22 |
T |
C |
8: 95,473,619 (GRCm39) |
W55R |
probably damaging |
Het |
| Ccnk |
A |
G |
12: 108,152,758 (GRCm39) |
Y25C |
probably damaging |
Het |
| Cntnap5a |
C |
T |
1: 116,499,271 (GRCm39) |
P1174S |
probably damaging |
Het |
| Copa |
T |
C |
1: 171,946,546 (GRCm39) |
|
probably null |
Het |
| Copg2 |
C |
T |
6: 30,793,061 (GRCm39) |
V425M |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,172,664 (GRCm39) |
T265S |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,053,582 (GRCm39) |
E2936G |
probably benign |
Het |
| Dync2i2 |
A |
T |
2: 29,921,903 (GRCm39) |
V486D |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,499,096 (GRCm39) |
D324G |
probably benign |
Het |
| F11 |
T |
A |
8: 45,701,644 (GRCm39) |
H363L |
possibly damaging |
Het |
| F7 |
T |
C |
8: 13,083,981 (GRCm39) |
V222A |
probably benign |
Het |
| Fars2 |
A |
G |
13: 36,594,093 (GRCm39) |
D366G |
probably damaging |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Flot2 |
A |
G |
11: 77,950,021 (GRCm39) |
I417V |
probably benign |
Het |
| Fmnl1 |
T |
C |
11: 103,077,525 (GRCm39) |
F295S |
probably damaging |
Het |
| Gpr89 |
G |
A |
3: 96,812,505 (GRCm39) |
T12I |
probably benign |
Het |
| Gprc6a |
T |
C |
10: 51,507,370 (GRCm39) |
D53G |
probably benign |
Het |
| Gtf2e1 |
T |
A |
16: 37,343,213 (GRCm39) |
I184F |
probably damaging |
Het |
| Gtf2h1 |
G |
A |
7: 46,454,474 (GRCm39) |
R152H |
probably benign |
Het |
| Haus3 |
A |
G |
5: 34,311,435 (GRCm39) |
F532L |
probably benign |
Het |
| Inpp4a |
A |
G |
1: 37,407,520 (GRCm39) |
|
probably benign |
Het |
| Klc4 |
A |
T |
17: 46,953,080 (GRCm39) |
L150Q |
possibly damaging |
Het |
| Lzts3 |
C |
T |
2: 130,476,801 (GRCm39) |
R549Q |
possibly damaging |
Het |
| Mbd5 |
T |
A |
2: 49,168,891 (GRCm39) |
L1354Q |
probably damaging |
Het |
| Mtus2 |
A |
G |
5: 148,043,815 (GRCm39) |
D801G |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,226,795 (GRCm39) |
T1411S |
unknown |
Het |
| Nalcn |
C |
A |
14: 123,554,436 (GRCm39) |
G954C |
probably damaging |
Het |
| Nlrp9b |
G |
A |
7: 19,757,986 (GRCm39) |
E408K |
possibly damaging |
Het |
| Oaz3 |
A |
G |
3: 94,342,434 (GRCm39) |
L119P |
probably damaging |
Het |
| Or2w6 |
A |
G |
13: 21,843,377 (GRCm39) |
F39L |
probably damaging |
Het |
| Pcdhgb5 |
T |
C |
18: 37,865,240 (GRCm39) |
V345A |
probably benign |
Het |
| Pdzph1 |
A |
T |
17: 59,280,009 (GRCm39) |
Y758N |
probably benign |
Het |
| Pea15a |
T |
A |
1: 172,026,812 (GRCm39) |
H65L |
probably damaging |
Het |
| Pigm |
T |
A |
1: 172,205,524 (GRCm39) |
I420N |
probably benign |
Het |
| Pign |
A |
G |
1: 105,516,803 (GRCm39) |
F580L |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,607,644 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,649,105 (GRCm39) |
N1225D |
probably benign |
Het |
| Rbbp6 |
G |
A |
7: 122,589,547 (GRCm39) |
D412N |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rtl1 |
A |
G |
12: 109,559,149 (GRCm39) |
Y897H |
possibly damaging |
Het |
| Scube2 |
A |
T |
7: 109,408,383 (GRCm39) |
F688Y |
probably benign |
Het |
| Sgo2b |
C |
A |
8: 64,377,735 (GRCm39) |
R1166L |
unknown |
Het |
| Slc12a2 |
G |
T |
18: 58,047,338 (GRCm39) |
|
probably benign |
Het |
| Smpdl3b |
T |
A |
4: 132,465,712 (GRCm39) |
H236L |
probably damaging |
Het |
| Spata9 |
C |
A |
13: 76,125,666 (GRCm39) |
|
probably benign |
Het |
| St6galnac4 |
A |
G |
2: 32,477,667 (GRCm39) |
|
probably benign |
Het |
| Stc2 |
T |
A |
11: 31,319,777 (GRCm39) |
N29I |
possibly damaging |
Het |
| Sun5 |
A |
T |
2: 153,707,243 (GRCm39) |
M145K |
possibly damaging |
Het |
| Tas2r106 |
T |
C |
6: 131,655,018 (GRCm39) |
I278V |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,727,975 (GRCm39) |
I565M |
probably damaging |
Het |
| Ttl |
A |
G |
2: 128,910,853 (GRCm39) |
K79R |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,737,721 (GRCm39) |
Y4319N |
unknown |
Het |
| Usp28 |
T |
C |
9: 48,938,182 (GRCm39) |
L584P |
probably damaging |
Het |
| Wdr27 |
A |
G |
17: 15,049,838 (GRCm39) |
S777P |
probably benign |
Het |
| Wee1 |
A |
G |
7: 109,723,691 (GRCm39) |
D202G |
probably benign |
Het |
| Wnt5a |
T |
C |
14: 28,244,562 (GRCm39) |
Y270H |
probably damaging |
Het |
| Zfp318 |
G |
A |
17: 46,723,301 (GRCm39) |
C1768Y |
probably 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 |
|
R5513:Ano2
|
UTSW |
6 |
126,016,285 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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 |
|
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'- CGGCTGCTAAAGAACTGAACC -3'
(R):5'- GATGCACAGCTCCATGAGAC -3'
Sequencing Primer
(F):5'- CGGCTGCTAAAGAACTGAACCATAAG -3'
(R):5'- GCTCCATGAGACAGCCTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation