Incidental Mutation 'R7045:Hcn1'
| ID |
547273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hcn1
|
| Ensembl Gene |
ENSMUSG00000021730 |
| Gene Name |
hyperpolarization activated cyclic nucleotide gated potassium channel 1 |
| Synonyms |
C630013B14Rik, HAC2, hyperpolarization-activated, cyclic nucleotide-gated K+ 1, Bcng1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7045 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
117738856-118117564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 118111998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 654
(P654L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006991]
|
| AlphaFold |
O88704 |
| PDB Structure |
Tetramerization dynamics of the C-terminus underlies isoform-specific cAMP-gating in HCN channels [X-RAY DIFFRACTION]
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000006991
AA Change: P654L
|
| SMART Domains |
Protein: ENSMUSP00000006991
Gene: ENSMUSG00000021730
AA Change: P654L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans_N
|
87 |
130 |
8.2e-24 |
PFAM |
|
Pfam:Ion_trans
|
131 |
394 |
2.1e-23 |
PFAM |
|
low complexity region
|
395 |
406 |
N/A |
INTRINSIC |
|
Blast:cNMP
|
407 |
439 |
4e-13 |
BLAST |
|
cNMP
|
464 |
580 |
1.95e-22 |
SMART |
|
low complexity region
|
639 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
660 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
720 |
779 |
N/A |
INTRINSIC |
|
low complexity region
|
878 |
886 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to form a potassium channel. This channel may act as a receptor for sour tastes. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for disruptions in this allele display learning deficiencies but are otherwise normal. Mice homozygous for another targeted knock-out exhibit deficit in hyperpolarization-activated currents and cold allodynia following partial nerve ligation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt1 |
A |
T |
12: 112,628,735 (GRCm39) |
Y18* |
probably null |
Het |
| Ank2 |
C |
A |
3: 126,806,393 (GRCm39) |
A583S |
probably damaging |
Het |
| Aoc1l3 |
T |
C |
6: 48,965,546 (GRCm39) |
V518A |
possibly damaging |
Het |
| Atp8b4 |
T |
C |
2: 126,214,115 (GRCm39) |
N706S |
probably benign |
Het |
| Bace2 |
A |
G |
16: 97,200,865 (GRCm39) |
N111S |
probably damaging |
Het |
| Cnp |
A |
T |
11: 100,471,184 (GRCm39) |
R275S |
probably benign |
Het |
| Cs |
T |
A |
10: 128,188,586 (GRCm39) |
M104K |
probably benign |
Het |
| Ctcfl |
G |
A |
2: 172,954,167 (GRCm39) |
T310I |
probably damaging |
Het |
| Cyp2d40 |
T |
C |
15: 82,645,763 (GRCm39) |
I81V |
probably benign |
Het |
| Ddx19a |
A |
G |
8: 111,719,706 (GRCm39) |
V30A |
probably benign |
Het |
| Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
| Dock6 |
G |
A |
9: 21,733,107 (GRCm39) |
A1062V |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,067,395 (GRCm39) |
D172G |
probably benign |
Het |
| Eml2 |
A |
G |
7: 18,935,504 (GRCm39) |
D638G |
probably damaging |
Het |
| Epb41l4b |
C |
A |
4: 57,103,522 (GRCm39) |
A105S |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 38,942,750 (GRCm39) |
I548V |
probably benign |
Het |
| Gabrb2 |
G |
A |
11: 42,484,758 (GRCm39) |
A272T |
probably damaging |
Het |
| Gask1a |
T |
C |
9: 121,794,707 (GRCm39) |
L287P |
probably damaging |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Hk1 |
C |
A |
10: 62,122,349 (GRCm39) |
G477C |
probably damaging |
Het |
| Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
| Kiss1r |
A |
G |
10: 79,755,259 (GRCm39) |
|
probably null |
Het |
| L3mbtl4 |
G |
T |
17: 68,768,561 (GRCm39) |
R223L |
probably benign |
Het |
| Loxl4 |
G |
T |
19: 42,595,074 (GRCm39) |
N200K |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,192,398 (GRCm39) |
V104A |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,812,293 (GRCm39) |
C902S |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,809,485 (GRCm39) |
V385D |
probably benign |
Het |
| Mrpl28 |
T |
C |
17: 26,345,261 (GRCm39) |
F227S |
probably benign |
Het |
| Mtmr3 |
A |
T |
11: 4,448,896 (GRCm39) |
V289E |
possibly damaging |
Het |
| Ndst3 |
A |
G |
3: 123,465,732 (GRCm39) |
V80A |
probably damaging |
Het |
| Nid2 |
C |
T |
14: 19,829,749 (GRCm39) |
A680V |
possibly damaging |
Het |
| Nudcd1 |
T |
C |
15: 44,269,226 (GRCm39) |
N145D |
probably benign |
Het |
| Nup210 |
A |
T |
6: 91,031,433 (GRCm39) |
I812N |
probably damaging |
Het |
| Or2ak6 |
A |
T |
11: 58,592,495 (GRCm39) |
|
probably benign |
Het |
| Or2g7 |
C |
T |
17: 38,378,862 (GRCm39) |
H267Y |
probably benign |
Het |
| Or2y17 |
A |
T |
11: 49,231,757 (GRCm39) |
T133S |
probably damaging |
Het |
| Or52n4b |
A |
G |
7: 108,144,452 (GRCm39) |
K238R |
probably damaging |
Het |
| Or5b114-ps1 |
C |
A |
19: 13,352,336 (GRCm39) |
N3K |
probably damaging |
Het |
| Or8c11 |
T |
A |
9: 38,289,729 (GRCm39) |
M184K |
probably damaging |
Het |
| Or8k16 |
A |
G |
2: 85,520,255 (GRCm39) |
S161G |
possibly damaging |
Het |
| Pcdhb6 |
A |
C |
18: 37,469,329 (GRCm39) |
Q750P |
possibly damaging |
Het |
| Plppr4 |
T |
C |
3: 117,153,683 (GRCm39) |
Y72C |
probably damaging |
Het |
| Rasgrf2 |
G |
T |
13: 92,159,100 (GRCm39) |
|
probably benign |
Het |
| Sbk2 |
A |
G |
7: 4,961,905 (GRCm39) |
I127T |
probably damaging |
Het |
| Smchd1 |
A |
C |
17: 71,722,039 (GRCm39) |
S817A |
probably benign |
Het |
| Speer4b |
A |
T |
5: 27,705,123 (GRCm39) |
N83K |
probably damaging |
Het |
| Strc |
A |
T |
2: 121,201,207 (GRCm39) |
L1296Q |
probably damaging |
Het |
| Thap11 |
C |
A |
8: 106,582,215 (GRCm39) |
R75S |
possibly damaging |
Het |
| Unc13a |
A |
C |
8: 72,111,407 (GRCm39) |
L268R |
possibly damaging |
Het |
| Zfp39 |
A |
T |
11: 58,781,269 (GRCm39) |
C498S |
unknown |
Het |
| Zfp507 |
T |
C |
7: 35,494,978 (GRCm39) |
T22A |
possibly damaging |
Het |
| Zfp85 |
T |
C |
13: 67,897,712 (GRCm39) |
Y120C |
probably benign |
Het |
| Zfp882 |
G |
A |
8: 72,667,093 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Hcn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Hcn1
|
APN |
13 |
118,112,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00340:Hcn1
|
APN |
13 |
117,739,513 (GRCm39) |
missense |
unknown |
|
|
IGL01161:Hcn1
|
APN |
13 |
117,793,458 (GRCm39) |
missense |
unknown |
|
|
IGL01723:Hcn1
|
APN |
13 |
118,112,591 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02324:Hcn1
|
APN |
13 |
118,039,422 (GRCm39) |
missense |
unknown |
|
|
IGL02491:Hcn1
|
APN |
13 |
117,946,576 (GRCm39) |
missense |
unknown |
|
|
Thump
|
UTSW |
13 |
118,010,441 (GRCm39) |
nonsense |
probably null |
|
|
FR4976:Hcn1
|
UTSW |
13 |
118,112,344 (GRCm39) |
small insertion |
probably benign |
|
|
PIT4504001:Hcn1
|
UTSW |
13 |
118,112,411 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0420:Hcn1
|
UTSW |
13 |
118,111,911 (GRCm39) |
missense |
unknown |
|
|
R1546:Hcn1
|
UTSW |
13 |
118,112,302 (GRCm39) |
small insertion |
probably benign |
|
|
R1558:Hcn1
|
UTSW |
13 |
118,112,112 (GRCm39) |
missense |
unknown |
|
|
R1659:Hcn1
|
UTSW |
13 |
118,112,610 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1667:Hcn1
|
UTSW |
13 |
117,739,609 (GRCm39) |
missense |
unknown |
|
|
R1766:Hcn1
|
UTSW |
13 |
117,793,270 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1842:Hcn1
|
UTSW |
13 |
118,112,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2051:Hcn1
|
UTSW |
13 |
118,112,619 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3605:Hcn1
|
UTSW |
13 |
118,111,788 (GRCm39) |
missense |
unknown |
|
|
R4259:Hcn1
|
UTSW |
13 |
118,111,884 (GRCm39) |
missense |
unknown |
|
|
R4284:Hcn1
|
UTSW |
13 |
118,112,269 (GRCm39) |
small deletion |
probably benign |
|
|
R4637:Hcn1
|
UTSW |
13 |
118,112,249 (GRCm39) |
missense |
unknown |
|
|
R4679:Hcn1
|
UTSW |
13 |
117,793,551 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4777:Hcn1
|
UTSW |
13 |
118,112,269 (GRCm39) |
small deletion |
probably benign |
|
|
R4839:Hcn1
|
UTSW |
13 |
118,062,246 (GRCm39) |
missense |
unknown |
|
|
R4883:Hcn1
|
UTSW |
13 |
118,039,431 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5015:Hcn1
|
UTSW |
13 |
117,739,556 (GRCm39) |
missense |
unknown |
|
|
R5060:Hcn1
|
UTSW |
13 |
118,010,441 (GRCm39) |
nonsense |
probably null |
|
|
R5748:Hcn1
|
UTSW |
13 |
118,112,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5823:Hcn1
|
UTSW |
13 |
117,739,388 (GRCm39) |
missense |
unknown |
|
|
R6900:Hcn1
|
UTSW |
13 |
117,793,363 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7049:Hcn1
|
UTSW |
13 |
118,111,998 (GRCm39) |
missense |
unknown |
|
|
R7163:Hcn1
|
UTSW |
13 |
118,062,083 (GRCm39) |
missense |
unknown |
|
|
R7534:Hcn1
|
UTSW |
13 |
118,111,961 (GRCm39) |
missense |
unknown |
|
|
R7722:Hcn1
|
UTSW |
13 |
118,039,314 (GRCm39) |
missense |
unknown |
|
|
R7984:Hcn1
|
UTSW |
13 |
118,112,609 (GRCm39) |
nonsense |
probably null |
|
|
R8083:Hcn1
|
UTSW |
13 |
118,112,296 (GRCm39) |
small insertion |
probably benign |
|
|
R8171:Hcn1
|
UTSW |
13 |
117,739,270 (GRCm39) |
missense |
unknown |
|
|
R8223:Hcn1
|
UTSW |
13 |
118,010,406 (GRCm39) |
missense |
unknown |
|
|
R8240:Hcn1
|
UTSW |
13 |
118,112,269 (GRCm39) |
small deletion |
probably benign |
|
|
R8853:Hcn1
|
UTSW |
13 |
118,112,269 (GRCm39) |
small deletion |
probably benign |
|
|
R9054:Hcn1
|
UTSW |
13 |
118,108,171 (GRCm39) |
missense |
unknown |
|
|
R9224:Hcn1
|
UTSW |
13 |
118,062,254 (GRCm39) |
missense |
unknown |
|
|
R9241:Hcn1
|
UTSW |
13 |
117,793,249 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9324:Hcn1
|
UTSW |
13 |
118,111,901 (GRCm39) |
missense |
unknown |
|
|
R9632:Hcn1
|
UTSW |
13 |
118,010,522 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9758:Hcn1
|
UTSW |
13 |
118,112,305 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTCTATTCTCCTGCAGAAGTTC -3'
(R):5'- TGCTGCATGAGTGACAGCTG -3'
Sequencing Primer
(F):5'- TTCTCCTGCAGAAGTTCCAGAAGG -3'
(R):5'- TGAGTGACAGCTGGGACGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation