Incidental Mutation 'R7456:Ano2'
| ID |
578124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano2
|
| Ensembl Gene |
ENSMUSG00000038115 |
| Gene Name |
anoctamin 2 |
| Synonyms |
Tmem16b |
| MMRRC Submission |
045530-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R7456 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
125667382-126017089 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 125940508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 544
(I544F)
|
| 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 benign
Transcript: ENSMUST00000160496
AA Change: I544F
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000125303
Gene: ENSMUSG00000038115
AA Change: I544F
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer2 |
A |
G |
4: 86,792,748 (GRCm39) |
D8G |
possibly damaging |
Het |
| Angpt4 |
T |
C |
2: 151,780,987 (GRCm39) |
Y412H |
probably damaging |
Het |
| Ankef1 |
A |
G |
2: 136,387,734 (GRCm39) |
D217G |
probably benign |
Het |
| App |
G |
A |
16: 84,970,448 (GRCm39) |
|
|
Het |
| Arhgef26 |
A |
G |
3: 62,247,476 (GRCm39) |
T187A |
probably benign |
Het |
| Axin1 |
T |
A |
17: 26,362,139 (GRCm39) |
V161E |
probably damaging |
Het |
| Bbs7 |
A |
T |
3: 36,648,527 (GRCm39) |
V407D |
probably damaging |
Het |
| C1qtnf3 |
A |
T |
15: 10,972,137 (GRCm39) |
E141V |
probably benign |
Het |
| C2 |
A |
G |
17: 35,083,558 (GRCm39) |
I469T |
probably damaging |
Het |
| Cc2d1a |
A |
G |
8: 84,866,868 (GRCm39) |
|
probably null |
Het |
| Cd226 |
A |
T |
18: 89,224,747 (GRCm39) |
I10F |
probably damaging |
Het |
| Cep295nl |
T |
C |
11: 118,224,376 (GRCm39) |
K156R |
possibly damaging |
Het |
| Cfap20dc |
A |
T |
14: 8,442,933 (GRCm38) |
L612* |
probably null |
Het |
| Cfap44 |
A |
G |
16: 44,252,305 (GRCm39) |
T805A |
probably benign |
Het |
| Chd9 |
G |
T |
8: 91,659,153 (GRCm39) |
E38* |
probably null |
Het |
| Cldnd2 |
C |
T |
7: 43,091,109 (GRCm39) |
L14F |
not run |
Het |
| Cyp11b2 |
T |
C |
15: 74,725,379 (GRCm39) |
T247A |
probably benign |
Het |
| Dennd11 |
T |
G |
6: 40,383,774 (GRCm39) |
M423L |
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,219,879 (GRCm39) |
S764G |
probably benign |
Het |
| Dsg3 |
A |
T |
18: 20,664,420 (GRCm39) |
T473S |
probably benign |
Het |
| Fam193a |
A |
T |
5: 34,578,132 (GRCm39) |
I209F |
possibly damaging |
Het |
| Foxs1 |
T |
C |
2: 152,775,045 (GRCm39) |
K3E |
probably benign |
Het |
| Gabrr3 |
C |
T |
16: 59,227,853 (GRCm39) |
Q37* |
probably null |
Het |
| Gcm2 |
A |
T |
13: 41,256,751 (GRCm39) |
W333R |
probably benign |
Het |
| Gcn1 |
C |
T |
5: 115,743,005 (GRCm39) |
Q1559* |
probably null |
Het |
| Gfm2 |
A |
T |
13: 97,282,211 (GRCm39) |
K69* |
probably null |
Het |
| Gm14295 |
T |
G |
2: 176,500,943 (GRCm39) |
C144W |
possibly damaging |
Het |
| Gm32742 |
G |
A |
9: 51,071,270 (GRCm39) |
T5I |
probably damaging |
Het |
| Gm5093 |
T |
C |
17: 46,750,679 (GRCm39) |
D116G |
probably damaging |
Het |
| Gsn |
A |
T |
2: 35,172,718 (GRCm39) |
K3N |
possibly damaging |
Het |
| H2-M2 |
C |
T |
17: 37,792,552 (GRCm39) |
D240N |
possibly damaging |
Het |
| Habp2 |
G |
C |
19: 56,307,957 (GRCm39) |
G482R |
probably damaging |
Het |
| Hnrnpm |
A |
T |
17: 33,865,622 (GRCm39) |
Y680N |
possibly damaging |
Het |
| Hrc |
T |
A |
7: 44,986,320 (GRCm39) |
D490E |
possibly damaging |
Het |
| Impg2 |
A |
G |
16: 56,080,276 (GRCm39) |
I693M |
probably benign |
Het |
| Itga7 |
A |
G |
10: 128,777,805 (GRCm39) |
Y262C |
probably damaging |
Het |
| Kif1c |
A |
G |
11: 70,619,424 (GRCm39) |
T1020A |
probably benign |
Het |
| Kif23 |
T |
C |
9: 61,844,402 (GRCm39) |
I139V |
probably benign |
Het |
| Klk1b5 |
A |
G |
7: 43,500,255 (GRCm39) |
E281G |
probably benign |
Het |
| Kpna4 |
A |
G |
3: 69,000,181 (GRCm39) |
V275A |
probably damaging |
Het |
| Lamb2 |
C |
A |
9: 108,362,979 (GRCm39) |
D787E |
possibly damaging |
Het |
| Ldlrad3 |
A |
C |
2: 101,785,270 (GRCm39) |
V235G |
probably damaging |
Het |
| Maneal |
A |
G |
4: 124,750,767 (GRCm39) |
S330P |
probably damaging |
Het |
| Maz |
G |
A |
7: 126,625,489 (GRCm39) |
Q35* |
probably null |
Het |
| Mthfd1l |
C |
T |
10: 4,039,998 (GRCm39) |
T803M |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,346,904 (GRCm39) |
Q325R |
probably benign |
Het |
| Myo3a |
C |
A |
2: 22,412,255 (GRCm39) |
A758E |
probably benign |
Het |
| Ndufb7 |
A |
G |
8: 84,293,482 (GRCm39) |
D12G |
probably benign |
Het |
| Nsun2 |
T |
A |
13: 69,781,725 (GRCm39) |
C677S |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,899,384 (GRCm39) |
F6471S |
probably benign |
Het |
| Or4c106 |
A |
T |
2: 88,682,563 (GRCm39) |
I90F |
probably damaging |
Het |
| Or51k1 |
A |
G |
7: 103,661,045 (GRCm39) |
V288A |
possibly damaging |
Het |
| Or7g32 |
T |
C |
9: 19,408,844 (GRCm39) |
S267P |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,552,005 (GRCm39) |
D313G |
probably damaging |
Het |
| Paqr5 |
T |
C |
9: 61,880,072 (GRCm39) |
D74G |
probably benign |
Het |
| Pigq |
A |
G |
17: 26,153,580 (GRCm39) |
V365A |
unknown |
Het |
| Podn |
A |
T |
4: 107,875,002 (GRCm39) |
N588K |
probably benign |
Het |
| Polr3b |
G |
A |
10: 84,458,355 (GRCm39) |
G9R |
probably benign |
Het |
| Proser1 |
A |
G |
3: 53,385,939 (GRCm39) |
H607R |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,767,168 (GRCm39) |
V1241I |
probably benign |
Het |
| Sar1b |
G |
A |
11: 51,682,181 (GRCm39) |
A170T |
probably benign |
Het |
| Slc22a17 |
T |
C |
14: 55,149,716 (GRCm39) |
T191A |
probably benign |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,779 (GRCm39) |
|
unknown |
Het |
| Slco6d1 |
A |
T |
1: 98,349,082 (GRCm39) |
D51V |
possibly damaging |
Het |
| Snx16 |
G |
A |
3: 10,500,541 (GRCm39) |
R143* |
probably null |
Het |
| Sytl2 |
T |
A |
7: 89,998,055 (GRCm39) |
L19Q |
probably damaging |
Het |
| Tmcc3 |
A |
G |
10: 94,418,174 (GRCm39) |
E345G |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,555,998 (GRCm39) |
A30336T |
probably damaging |
Het |
| Vmn1r44 |
A |
G |
6: 89,870,401 (GRCm39) |
D49G |
probably benign |
Het |
| Vps35l |
C |
T |
7: 118,403,340 (GRCm39) |
P628S |
probably benign |
Het |
| Vps41 |
T |
A |
13: 19,048,204 (GRCm39) |
D801E |
probably benign |
Het |
| Wif1 |
G |
A |
10: 120,932,554 (GRCm39) |
E311K |
probably benign |
Het |
| Zfp513 |
G |
T |
5: 31,357,759 (GRCm39) |
R207S |
possibly damaging |
Het |
| Zfp52 |
C |
A |
17: 21,781,615 (GRCm39) |
H488N |
probably damaging |
Het |
| Zfp738 |
A |
G |
13: 67,817,619 (GRCm39) |
Y791H |
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 |
|
|
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'- ACTGGGATCTGATAAAAGCTGG -3'
(R):5'- ACTTGGCCACAGCACCATAG -3'
Sequencing Primer
(F):5'- CTGATAAAAGCTGGAGATGTTCTGCC -3'
(R):5'- TTGGCCACAGCACCATAGATCTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation