Incidental Mutation 'R7312:Ano2'
ID |
567665 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano2
|
Ensembl Gene |
ENSMUSG00000038115 |
Gene Name |
anoctamin 2 |
Synonyms |
Tmem16b |
MMRRC Submission |
045410-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R7312 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
125667382-126017089 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 126016460 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 998
(Q998*)
|
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 null
Transcript: ENSMUST00000160496
AA Change: Q998*
|
SMART Domains |
Protein: ENSMUSP00000125303 Gene: ENSMUSG00000038115 AA Change: Q998*
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (60/60) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933434E20Rik |
T |
C |
3: 89,969,021 (GRCm39) |
S215P |
probably benign |
Het |
Atg9a |
A |
T |
1: 75,164,736 (GRCm39) |
V76E |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 119,034,172 (GRCm39) |
I118M |
|
Het |
Cacna1g |
T |
A |
11: 94,323,383 (GRCm39) |
I1274F |
probably damaging |
Het |
Cd300lg |
C |
T |
11: 101,937,767 (GRCm39) |
A199V |
probably benign |
Het |
Cfap61 |
C |
T |
2: 145,887,390 (GRCm39) |
R612* |
probably null |
Het |
Cpeb4 |
A |
T |
11: 31,881,417 (GRCm39) |
Y692F |
probably damaging |
Het |
Dcun1d1 |
A |
G |
3: 35,951,940 (GRCm39) |
|
probably null |
Het |
Dennd2d |
T |
A |
3: 106,398,579 (GRCm39) |
M188K |
probably benign |
Het |
Dmgdh |
A |
G |
13: 93,845,354 (GRCm39) |
|
probably null |
Het |
Efl1 |
T |
A |
7: 82,330,652 (GRCm39) |
M275K |
probably benign |
Het |
Erp29 |
G |
T |
5: 121,583,392 (GRCm39) |
A178D |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,308,594 (GRCm39) |
N156S |
possibly damaging |
Het |
Frrs1 |
C |
T |
3: 116,675,426 (GRCm39) |
T118I |
probably damaging |
Het |
Frrs1l |
A |
G |
4: 56,968,230 (GRCm39) |
W181R |
probably benign |
Het |
Gprc5b |
C |
A |
7: 118,583,482 (GRCm39) |
W129L |
probably damaging |
Het |
Hoxc9 |
A |
G |
15: 102,890,593 (GRCm39) |
H170R |
probably benign |
Het |
Il12rb2 |
C |
T |
6: 67,333,617 (GRCm39) |
D221N |
probably benign |
Het |
Lmo1 |
T |
C |
7: 108,742,819 (GRCm39) |
N28S |
probably benign |
Het |
Lrrfip2 |
T |
A |
9: 111,006,525 (GRCm39) |
|
probably null |
Het |
Macf1 |
A |
T |
4: 123,400,130 (GRCm39) |
F722I |
probably damaging |
Het |
Mical1 |
T |
C |
10: 41,355,772 (GRCm39) |
|
probably null |
Het |
Mtcl3 |
A |
G |
10: 29,073,240 (GRCm39) |
Y844C |
probably damaging |
Het |
Mtmr11 |
C |
T |
3: 96,071,855 (GRCm39) |
T223M |
possibly damaging |
Het |
Mup21 |
A |
G |
4: 62,068,468 (GRCm39) |
V66A |
probably benign |
Het |
Nav2 |
C |
A |
7: 49,111,672 (GRCm39) |
A726D |
possibly damaging |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Nudt21 |
A |
T |
8: 94,746,227 (GRCm39) |
V157D |
probably benign |
Het |
Numa1 |
T |
C |
7: 101,639,806 (GRCm39) |
I52T |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,946,442 (GRCm39) |
D4421G |
probably benign |
Het |
Oog3 |
T |
C |
4: 143,886,801 (GRCm39) |
I106M |
probably benign |
Het |
Or10g9 |
A |
T |
9: 39,912,106 (GRCm39) |
V139E |
probably benign |
Het |
Or2g25 |
T |
C |
17: 37,970,403 (GRCm39) |
T274A |
possibly damaging |
Het |
Or2z9 |
T |
C |
8: 72,853,793 (GRCm39) |
L63P |
probably damaging |
Het |
Or51f1 |
T |
A |
7: 102,505,706 (GRCm39) |
Y261F |
probably damaging |
Het |
Or5w20 |
T |
G |
2: 87,726,755 (GRCm39) |
C71G |
possibly damaging |
Het |
Orai2 |
T |
A |
5: 136,179,437 (GRCm39) |
I199F |
probably damaging |
Het |
P2rx5 |
C |
A |
11: 73,055,692 (GRCm39) |
L50M |
probably damaging |
Het |
Pdia2 |
T |
C |
17: 26,416,634 (GRCm39) |
E215G |
possibly damaging |
Het |
Pds5a |
A |
T |
5: 65,823,570 (GRCm39) |
S74T |
possibly damaging |
Het |
Phlpp2 |
A |
G |
8: 110,666,785 (GRCm39) |
S1105G |
probably damaging |
Het |
Pi4kb |
T |
A |
3: 94,891,888 (GRCm39) |
D189E |
probably benign |
Het |
Pigw |
G |
A |
11: 84,768,585 (GRCm39) |
T248M |
probably damaging |
Het |
Pnlip |
T |
A |
19: 58,670,134 (GRCm39) |
V458D |
probably damaging |
Het |
Ppm1l |
G |
A |
3: 69,225,044 (GRCm39) |
V49I |
probably benign |
Het |
Prl3b1 |
T |
A |
13: 27,426,473 (GRCm39) |
M1K |
probably null |
Het |
Rad1 |
T |
A |
15: 10,493,367 (GRCm39) |
C265S |
probably benign |
Het |
Rnaset2b |
C |
T |
17: 7,265,427 (GRCm39) |
S237F |
probably benign |
Het |
Rtl1 |
C |
T |
12: 109,561,672 (GRCm39) |
A56T |
unknown |
Het |
S1pr2 |
T |
C |
9: 20,879,238 (GRCm39) |
I197V |
probably benign |
Het |
Smyd4 |
A |
G |
11: 75,281,082 (GRCm39) |
Q185R |
probably benign |
Het |
Sox5 |
T |
A |
6: 144,100,759 (GRCm39) |
T77S |
probably benign |
Het |
Sox7 |
A |
G |
14: 64,185,291 (GRCm39) |
Y109C |
probably damaging |
Het |
Styxl2 |
C |
T |
1: 165,954,676 (GRCm39) |
V25I |
probably damaging |
Het |
Tln1 |
G |
A |
4: 43,545,922 (GRCm39) |
R898C |
probably damaging |
Het |
Tmprss11b |
T |
A |
5: 86,812,173 (GRCm39) |
E158V |
probably damaging |
Het |
Tnpo3 |
C |
A |
6: 29,562,875 (GRCm39) |
R614L |
possibly damaging |
Het |
Vmn2r100 |
T |
A |
17: 19,742,296 (GRCm39) |
D223E |
probably benign |
Het |
Zc3h12d |
A |
T |
10: 7,743,345 (GRCm39) |
M372L |
probably benign |
Het |
Zfp28 |
G |
T |
7: 6,386,593 (GRCm39) |
|
probably benign |
Het |
Zfp963 |
A |
T |
8: 70,195,759 (GRCm39) |
H231Q |
probably damaging |
Het |
Zscan4b |
A |
G |
7: 10,634,867 (GRCm39) |
S459P |
probably benign |
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 |
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'- GAAGAGCTTGCTGGTAGACTTC -3'
(R):5'- TCCCTGAAAGGACACAGCTC -3'
Sequencing Primer
(F):5'- CTTCTTTCTGAAGGAGGAGCATGAG -3'
(R):5'- TGAAAGGACACAGCTCAAAAGTC -3'
|
Posted On |
2019-06-26 |