Incidental Mutation 'R0269:Hcn2'
| ID |
35154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hcn2
|
| Ensembl Gene |
ENSMUSG00000020331 |
| Gene Name |
hyperpolarization-activated, cyclic nucleotide-gated K+ 2 |
| Synonyms |
HAC1, trls |
| MMRRC Submission |
038495-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0269 (G1)
|
| Quality Score |
171 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79552468-79571942 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 79570075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124556
(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 benign
Transcript: ENSMUST00000020581
|
| SMART Domains |
Protein: ENSMUSP00000020581
Gene: ENSMUSG00000020331
| 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 benign
Transcript: ENSMUST00000099513
|
| SMART Domains |
Protein: ENSMUSP00000097113
Gene: ENSMUSG00000020331
| 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: ENSMUST00000161098
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162687
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160838
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162679
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.8%
- 10x: 96.1%
- 20x: 93.6%
|
| Validation Efficiency |
100% (59/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
C |
T |
15: 84,838,201 (GRCm39) |
V231I |
possibly damaging |
Het |
| Abca1 |
T |
C |
4: 53,044,228 (GRCm39) |
D1798G |
probably benign |
Het |
| Adcy2 |
T |
A |
13: 68,826,725 (GRCm39) |
K660* |
probably null |
Het |
| Alk |
G |
T |
17: 72,910,578 (GRCm39) |
P43T |
probably damaging |
Het |
| Amhr2 |
T |
C |
15: 102,355,503 (GRCm39) |
C189R |
probably benign |
Het |
| Arrb1 |
T |
C |
7: 99,243,884 (GRCm39) |
L278P |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,511,246 (GRCm39) |
Y153C |
probably damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,054,867 (GRCm39) |
D253G |
possibly damaging |
Het |
| Bpifb9b |
C |
T |
2: 154,161,545 (GRCm39) |
T559M |
probably benign |
Het |
| Cd46 |
T |
G |
1: 194,746,996 (GRCm39) |
I339L |
probably benign |
Het |
| Cdkn2aip |
A |
G |
8: 48,165,012 (GRCm39) |
S234P |
probably damaging |
Het |
| Chil3 |
T |
C |
3: 106,063,072 (GRCm39) |
K173E |
probably benign |
Het |
| Csf2rb2 |
G |
T |
15: 78,173,065 (GRCm39) |
T265N |
probably benign |
Het |
| Cyp2c40 |
A |
G |
19: 39,762,340 (GRCm39) |
F436L |
probably damaging |
Het |
| D130040H23Rik |
T |
C |
8: 69,753,446 (GRCm39) |
F24S |
probably benign |
Het |
| Defb12 |
G |
T |
8: 19,164,375 (GRCm39) |
A34E |
probably damaging |
Het |
| Fam234a |
A |
T |
17: 26,435,591 (GRCm39) |
D264E |
probably benign |
Het |
| Fbxl17 |
A |
C |
17: 63,691,987 (GRCm39) |
F42V |
probably damaging |
Het |
| Gldc |
T |
A |
19: 30,096,002 (GRCm39) |
I670F |
probably damaging |
Het |
| Guf1 |
A |
C |
5: 69,716,942 (GRCm39) |
Q168P |
probably damaging |
Het |
| Hddc2 |
A |
G |
10: 31,203,942 (GRCm39) |
M190V |
probably benign |
Het |
| Kcnq2 |
T |
C |
2: 180,738,767 (GRCm39) |
E294G |
probably benign |
Het |
| Kdelr1 |
T |
A |
7: 45,523,463 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
T |
A |
12: 25,090,511 (GRCm39) |
H1158Q |
probably damaging |
Het |
| Laptm5 |
A |
T |
4: 130,658,127 (GRCm39) |
N185Y |
probably benign |
Het |
| Mgat4a |
A |
G |
1: 37,529,388 (GRCm39) |
Y164H |
possibly damaging |
Het |
| Mlh3 |
C |
A |
12: 85,315,179 (GRCm39) |
V336L |
probably benign |
Het |
| Myadm |
A |
G |
7: 3,345,273 (GRCm39) |
T12A |
unknown |
Het |
| Nol8 |
T |
C |
13: 49,807,921 (GRCm39) |
F46L |
possibly damaging |
Het |
| Ntrk1 |
T |
C |
3: 87,691,240 (GRCm39) |
D308G |
possibly damaging |
Het |
| Oog3 |
A |
T |
4: 143,886,784 (GRCm39) |
V112D |
probably benign |
Het |
| Or4a66 |
A |
G |
2: 88,531,040 (GRCm39) |
V211A |
probably damaging |
Het |
| Or5af2 |
T |
C |
11: 58,707,975 (GRCm39) |
V47A |
probably damaging |
Het |
| Or5m9b |
A |
G |
2: 85,905,485 (GRCm39) |
M134V |
probably benign |
Het |
| Or8g34 |
T |
C |
9: 39,373,090 (GRCm39) |
M118T |
probably damaging |
Het |
| Or9s18 |
A |
T |
13: 65,300,692 (GRCm39) |
Y218F |
possibly damaging |
Het |
| Pramel14 |
A |
G |
4: 143,720,088 (GRCm39) |
|
probably benign |
Het |
| Prss39 |
A |
T |
1: 34,539,279 (GRCm39) |
H173L |
probably damaging |
Het |
| Rabl6 |
A |
G |
2: 25,476,878 (GRCm39) |
|
probably null |
Het |
| Recql5 |
T |
C |
11: 115,819,050 (GRCm39) |
D172G |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,125,535 (GRCm39) |
D2716G |
probably damaging |
Het |
| Rgs7 |
A |
G |
1: 175,098,386 (GRCm39) |
S58P |
possibly damaging |
Het |
| Sema6d |
T |
A |
2: 124,502,665 (GRCm39) |
F583L |
possibly damaging |
Het |
| Sgsm1 |
T |
C |
5: 113,434,795 (GRCm39) |
|
probably null |
Het |
| Slc22a19 |
A |
T |
19: 7,686,986 (GRCm39) |
|
probably benign |
Het |
| Slc6a21 |
T |
A |
7: 44,936,332 (GRCm39) |
Y428* |
probably null |
Het |
| Smarca4 |
T |
G |
9: 21,547,497 (GRCm39) |
M260R |
probably benign |
Het |
| Smg6 |
C |
A |
11: 75,053,757 (GRCm39) |
T1413K |
probably benign |
Het |
| Spata17 |
T |
C |
1: 186,830,069 (GRCm39) |
I322V |
probably benign |
Het |
| Stxbp1 |
A |
C |
2: 32,692,795 (GRCm39) |
I407S |
probably damaging |
Het |
| Sult1d1 |
A |
T |
5: 87,712,661 (GRCm39) |
I61N |
probably damaging |
Het |
| Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
| Tm4sf5 |
T |
A |
11: 70,401,495 (GRCm39) |
S165T |
probably damaging |
Het |
| Tmx2 |
T |
C |
2: 84,502,740 (GRCm39) |
D256G |
probably benign |
Het |
| Trmt11 |
T |
A |
10: 30,463,485 (GRCm39) |
H210L |
probably benign |
Het |
| Tut7 |
A |
T |
13: 59,964,669 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
A |
1: 188,542,373 (GRCm39) |
M3313K |
probably benign |
Het |
| Zfp955b |
A |
T |
17: 33,524,437 (GRCm39) |
S43R |
probably damaging |
Het |
|
| Other mutations in Hcn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00945:Hcn2
|
APN |
10 |
79,569,637 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGTTTGGCTGCTGAGGCACCAC -3'
(R):5'- TATTGAGCCTGAGCCGTTCTCACC -3'
Sequencing Primer
(F):5'- ACAGAGATCTGCTTGCTCACG -3'
(R):5'- CACCAGGCCCTGTGATTC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation