Incidental Mutation 'IGL00945:Hcn2'
ID |
28361 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hcn2
|
Ensembl Gene |
ENSMUSG00000020331 |
Gene Name |
hyperpolarization-activated, cyclic nucleotide-gated K+ 2 |
Synonyms |
HAC1, trls |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00945
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
79552468-79571942 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 79569637 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 546
(R546*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097113
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020580]
[ENSMUST00000020581]
[ENSMUST00000099513]
[ENSMUST00000159016]
[ENSMUST00000162694]
|
AlphaFold |
O88703 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020580
|
SMART Domains |
Protein: ENSMUSP00000020580 Gene: ENSMUSG00000020329
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
45 |
N/A |
INTRINSIC |
low complexity region
|
159 |
168 |
N/A |
INTRINSIC |
low complexity region
|
175 |
189 |
N/A |
INTRINSIC |
low complexity region
|
326 |
339 |
N/A |
INTRINSIC |
RPOL_N
|
373 |
675 |
1.59e-92 |
SMART |
low complexity region
|
703 |
714 |
N/A |
INTRINSIC |
Pfam:RNA_pol
|
802 |
1207 |
5.6e-169 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000020581
AA Change: R546*
|
SMART Domains |
Protein: ENSMUSP00000020581 Gene: ENSMUSG00000020331 AA Change: R546*
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
47 |
N/A |
INTRINSIC |
low complexity region
|
106 |
128 |
N/A |
INTRINSIC |
Pfam:Ion_trans_N
|
140 |
183 |
5e-23 |
PFAM |
Pfam:Ion_trans
|
184 |
447 |
3.3e-24 |
PFAM |
low complexity region
|
448 |
459 |
N/A |
INTRINSIC |
Blast:cNMP
|
460 |
492 |
9e-13 |
BLAST |
cNMP
|
517 |
630 |
4.79e-22 |
SMART |
low complexity region
|
727 |
765 |
N/A |
INTRINSIC |
low complexity region
|
778 |
800 |
N/A |
INTRINSIC |
low complexity region
|
804 |
838 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000099513
AA Change: R546*
|
SMART Domains |
Protein: ENSMUSP00000097113 Gene: ENSMUSG00000020331 AA Change: R546*
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
47 |
N/A |
INTRINSIC |
low complexity region
|
106 |
128 |
N/A |
INTRINSIC |
Pfam:Ion_trans_N
|
139 |
215 |
2.6e-47 |
PFAM |
Pfam:Ion_trans
|
219 |
435 |
1.5e-20 |
PFAM |
low complexity region
|
448 |
459 |
N/A |
INTRINSIC |
Blast:cNMP
|
460 |
492 |
9e-13 |
BLAST |
cNMP
|
517 |
630 |
4.79e-22 |
SMART |
low complexity region
|
727 |
765 |
N/A |
INTRINSIC |
low complexity region
|
778 |
800 |
N/A |
INTRINSIC |
low complexity region
|
804 |
838 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159016
|
SMART Domains |
Protein: ENSMUSP00000124936 Gene: ENSMUSG00000020329
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
45 |
N/A |
INTRINSIC |
low complexity region
|
159 |
168 |
N/A |
INTRINSIC |
low complexity region
|
175 |
189 |
N/A |
INTRINSIC |
low complexity region
|
326 |
339 |
N/A |
INTRINSIC |
RPOL_N
|
373 |
601 |
6.27e-50 |
SMART |
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
Pfam:RNA_pol
|
727 |
1133 |
7.5e-157 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159082
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159289
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160595
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162679
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162687
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161098
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160838
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161765
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162694
|
SMART Domains |
Protein: ENSMUSP00000124556 Gene: ENSMUSG00000020329
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
45 |
N/A |
INTRINSIC |
low complexity region
|
159 |
168 |
N/A |
INTRINSIC |
low complexity region
|
175 |
189 |
N/A |
INTRINSIC |
low complexity region
|
326 |
339 |
N/A |
INTRINSIC |
RPOL_N
|
373 |
675 |
1.59e-92 |
SMART |
low complexity region
|
703 |
714 |
N/A |
INTRINSIC |
Pfam:RNA_pol
|
801 |
895 |
6.4e-34 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161662
|
SMART Domains |
Protein: ENSMUSP00000124230 Gene: ENSMUSG00000020329
Domain | Start | End | E-Value | Type |
Pfam:RNA_pol
|
29 |
120 |
6.7e-39 |
PFAM |
Pfam:RNA_pol
|
119 |
393 |
2.7e-100 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a hyperpolarization-activated cation channel involved in the generation of native pacemaker activity in the heart and in the brain. The encoded protein is activated by cAMP and can produce a fast, large current. Defects in this gene were noted as a possible cause of some forms of epilepsy. [provided by RefSeq, Jan 2017] PHENOTYPE: Mice homozygous for mutant alleles exhibit decreased body weight, behavioral/neurological abnormalities, and tremors or absence seizures. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
A |
G |
5: 35,994,364 (GRCm39) |
I101V |
probably damaging |
Het |
Aldh5a1 |
A |
G |
13: 25,110,141 (GRCm39) |
|
probably benign |
Het |
Arhgef28 |
A |
C |
13: 98,103,907 (GRCm39) |
L728R |
possibly damaging |
Het |
Dct |
G |
A |
14: 118,277,916 (GRCm39) |
T218M |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Lap3 |
A |
G |
5: 45,662,115 (GRCm39) |
|
probably null |
Het |
Mettl16 |
C |
T |
11: 74,708,192 (GRCm39) |
H464Y |
probably benign |
Het |
Myh13 |
G |
A |
11: 67,238,832 (GRCm39) |
R725Q |
probably null |
Het |
Nf1 |
T |
C |
11: 79,360,629 (GRCm39) |
F1436L |
probably damaging |
Het |
Nod1 |
C |
T |
6: 54,921,571 (GRCm39) |
|
probably null |
Het |
Or6c215 |
A |
T |
10: 129,637,776 (GRCm39) |
V206E |
possibly damaging |
Het |
Pde5a |
T |
A |
3: 122,629,291 (GRCm39) |
|
probably null |
Het |
Pja2 |
T |
C |
17: 64,616,391 (GRCm39) |
Y168C |
probably benign |
Het |
Plod2 |
A |
G |
9: 92,466,549 (GRCm39) |
I170V |
probably benign |
Het |
Pop5 |
A |
G |
5: 115,378,618 (GRCm39) |
|
probably benign |
Het |
Sdk1 |
G |
T |
5: 142,070,368 (GRCm39) |
|
probably null |
Het |
Sema3f |
G |
A |
9: 107,562,721 (GRCm39) |
S420L |
probably benign |
Het |
Shtn1 |
C |
T |
19: 59,007,384 (GRCm39) |
E289K |
possibly damaging |
Het |
Smarca1 |
A |
T |
X: 46,947,178 (GRCm39) |
Y526* |
probably null |
Het |
Sptan1 |
T |
C |
2: 29,890,083 (GRCm39) |
|
probably benign |
Het |
St7l |
C |
A |
3: 104,833,798 (GRCm39) |
H486Q |
probably damaging |
Het |
Tcte1 |
C |
A |
17: 45,852,115 (GRCm39) |
F449L |
probably benign |
Het |
Tmem131 |
A |
G |
1: 36,866,086 (GRCm39) |
|
probably benign |
Het |
Trim46 |
A |
G |
3: 89,151,725 (GRCm39) |
|
probably benign |
Het |
Wwp1 |
A |
T |
4: 19,640,193 (GRCm39) |
|
probably null |
Het |
Zc3h13 |
A |
G |
14: 75,567,587 (GRCm39) |
D960G |
probably damaging |
Het |
|
Other mutations in Hcn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01339:Hcn2
|
APN |
10 |
79,564,902 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02183:Hcn2
|
APN |
10 |
79,560,647 (GRCm39) |
critical splice donor site |
probably null |
|
asombrarse
|
UTSW |
10 |
79,560,445 (GRCm39) |
missense |
probably damaging |
1.00 |
curveball
|
UTSW |
10 |
79,560,620 (GRCm39) |
missense |
probably damaging |
1.00 |
curveball2
|
UTSW |
10 |
79,569,607 (GRCm39) |
nonsense |
probably null |
|
mire
|
UTSW |
10 |
79,564,947 (GRCm39) |
critical splice donor site |
probably null |
|
R0269:Hcn2
|
UTSW |
10 |
79,570,075 (GRCm39) |
unclassified |
probably benign |
|
R0671:Hcn2
|
UTSW |
10 |
79,570,066 (GRCm39) |
splice site |
probably null |
|
R1879:Hcn2
|
UTSW |
10 |
79,562,023 (GRCm39) |
missense |
probably benign |
0.03 |
R1913:Hcn2
|
UTSW |
10 |
79,566,777 (GRCm39) |
missense |
probably benign |
0.14 |
R4051:Hcn2
|
UTSW |
10 |
79,569,521 (GRCm39) |
splice site |
probably null |
|
R4052:Hcn2
|
UTSW |
10 |
79,569,521 (GRCm39) |
splice site |
probably null |
|
R4328:Hcn2
|
UTSW |
10 |
79,560,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R4507:Hcn2
|
UTSW |
10 |
79,560,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R4518:Hcn2
|
UTSW |
10 |
79,560,536 (GRCm39) |
missense |
probably benign |
0.17 |
R4578:Hcn2
|
UTSW |
10 |
79,560,282 (GRCm39) |
splice site |
probably null |
|
R5334:Hcn2
|
UTSW |
10 |
79,562,125 (GRCm39) |
missense |
probably damaging |
0.99 |
R5788:Hcn2
|
UTSW |
10 |
79,552,945 (GRCm39) |
missense |
possibly damaging |
0.48 |
R6131:Hcn2
|
UTSW |
10 |
79,569,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R6457:Hcn2
|
UTSW |
10 |
79,569,607 (GRCm39) |
nonsense |
probably null |
|
R6547:Hcn2
|
UTSW |
10 |
79,552,986 (GRCm39) |
missense |
probably benign |
0.29 |
R6851:Hcn2
|
UTSW |
10 |
79,564,947 (GRCm39) |
critical splice donor site |
probably null |
|
R7276:Hcn2
|
UTSW |
10 |
79,564,934 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7706:Hcn2
|
UTSW |
10 |
79,570,017 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7893:Hcn2
|
UTSW |
10 |
79,560,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R8208:Hcn2
|
UTSW |
10 |
79,566,778 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8677:Hcn2
|
UTSW |
10 |
79,560,619 (GRCm39) |
missense |
probably benign |
0.28 |
R9333:Hcn2
|
UTSW |
10 |
79,561,991 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9527:Hcn2
|
UTSW |
10 |
79,570,706 (GRCm39) |
missense |
probably benign |
0.05 |
R9594:Hcn2
|
UTSW |
10 |
79,560,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R9602:Hcn2
|
UTSW |
10 |
79,562,128 (GRCm39) |
missense |
probably benign |
0.05 |
R9604:Hcn2
|
UTSW |
10 |
79,564,787 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Hcn2
|
UTSW |
10 |
79,569,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-04-17 |