Incidental Mutation 'R9241:Hcn1'
| ID |
700758 |
| 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 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9241 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
117738856-118117564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117793249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 167
(F167S)
|
| 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 |
probably benign
Transcript: ENSMUST00000006991
AA Change: F167S
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000006991
Gene: ENSMUSG00000021730
AA Change: F167S
| 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: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (51/52) |
| 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 |
|---|
| 1700030J22Rik |
A |
G |
8: 117,697,937 (GRCm39) |
L390P |
probably damaging |
Het |
| AL732309.1 |
T |
A |
2: 25,135,919 (GRCm39) |
E98D |
possibly damaging |
Het |
| Aldh2 |
T |
C |
5: 121,710,220 (GRCm39) |
I372V |
probably benign |
Het |
| Amph |
G |
T |
13: 19,278,972 (GRCm39) |
R149L |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,688,887 (GRCm39) |
V8A |
probably benign |
Het |
| Aox4 |
T |
A |
1: 58,291,345 (GRCm39) |
V821E |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,743,993 (GRCm39) |
Q1504L |
probably benign |
Het |
| Cdcp1 |
C |
A |
9: 123,014,301 (GRCm39) |
G158W |
probably damaging |
Het |
| Cryge |
T |
G |
1: 65,088,018 (GRCm39) |
D97A |
possibly damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Dyrk1b |
A |
G |
7: 27,886,058 (GRCm39) |
T594A |
probably benign |
Het |
| Emilin3 |
T |
C |
2: 160,750,177 (GRCm39) |
D477G |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,147,566 (GRCm39) |
H3892R |
probably benign |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Gm9922 |
A |
T |
14: 101,967,220 (GRCm39) |
S11T |
unknown |
Het |
| Hcfc2 |
T |
C |
10: 82,568,485 (GRCm39) |
V43A |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,926,507 (GRCm39) |
I1012M |
probably damaging |
Het |
| Kash5 |
A |
G |
7: 44,833,313 (GRCm39) |
I603T |
probably benign |
Het |
| Lepr |
G |
T |
4: 101,671,788 (GRCm39) |
M937I |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,271,952 (GRCm39) |
D6532G |
probably damaging |
Het |
| Mapk13 |
A |
T |
17: 28,990,187 (GRCm39) |
D102V |
probably damaging |
Het |
| Mapt |
A |
T |
11: 104,189,797 (GRCm39) |
T272S |
probably benign |
Het |
| Mfap3 |
A |
G |
11: 57,420,672 (GRCm39) |
T218A |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,297,653 (GRCm39) |
H2460Q |
possibly damaging |
Het |
| Nalcn |
G |
T |
14: 123,809,429 (GRCm39) |
P241Q |
probably benign |
Het |
| Nup50 |
A |
G |
15: 84,822,611 (GRCm39) |
T378A |
possibly damaging |
Het |
| Oprl1 |
C |
T |
2: 181,360,405 (GRCm39) |
R154C |
probably damaging |
Het |
| Or2n1e |
A |
G |
17: 38,585,781 (GRCm39) |
M40V |
probably benign |
Het |
| Pcdha8 |
C |
T |
18: 37,127,008 (GRCm39) |
R497W |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 116,017,115 (GRCm39) |
V214A |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,525,204 (GRCm39) |
|
probably null |
Het |
| Pole3 |
A |
G |
4: 62,442,845 (GRCm39) |
|
probably benign |
Het |
| Prkn |
A |
T |
17: 11,456,382 (GRCm39) |
I69L |
probably benign |
Het |
| Psd3 |
G |
T |
8: 68,415,967 (GRCm39) |
N357K |
probably benign |
Het |
| Psme4 |
A |
T |
11: 30,815,576 (GRCm39) |
D1696V |
probably damaging |
Het |
| Reln |
C |
T |
5: 22,174,067 (GRCm39) |
R2012Q |
probably damaging |
Het |
| Saxo2 |
T |
C |
7: 82,284,250 (GRCm39) |
T203A |
probably benign |
Het |
| Scgb1a1 |
T |
C |
19: 9,065,293 (GRCm39) |
|
probably benign |
Het |
| Selplg |
T |
A |
5: 113,957,647 (GRCm39) |
N220Y |
possibly damaging |
Het |
| Septin9 |
C |
A |
11: 117,109,724 (GRCm39) |
R15S |
probably benign |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Smarca4 |
T |
G |
9: 21,550,604 (GRCm39) |
S446A |
possibly damaging |
Het |
| Smc1b |
T |
C |
15: 84,976,209 (GRCm39) |
N833D |
probably benign |
Het |
| Son |
T |
A |
16: 91,454,122 (GRCm39) |
D956E |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,885,420 (GRCm39) |
Y2060* |
probably null |
Het |
| Tesmin |
T |
C |
19: 3,439,010 (GRCm39) |
F21L |
probably benign |
Het |
| Tmem200c |
G |
T |
17: 69,144,161 (GRCm39) |
|
probably benign |
Het |
| Tnk2 |
A |
C |
16: 32,488,916 (GRCm39) |
D252A |
probably damaging |
Het |
| Tpcn1 |
C |
T |
5: 120,691,558 (GRCm39) |
V299I |
probably benign |
Het |
| Trpv1 |
A |
G |
11: 73,151,182 (GRCm39) |
N790S |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,308,697 (GRCm39) |
T641I |
probably damaging |
Het |
| Zfp563 |
A |
T |
17: 33,321,520 (GRCm39) |
Q45L |
probably benign |
Het |
| Zswim9 |
A |
T |
7: 13,003,360 (GRCm39) |
D163E |
probably damaging |
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 |
|
R7045:Hcn1
|
UTSW |
13 |
118,111,998 (GRCm39) |
missense |
unknown |
|
|
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 |
|
|
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'- CAAAGTGCCTACTAACAGTTGTAAC -3'
(R):5'- TACGAAGTGCTCTGGCTGTC -3'
Sequencing Primer
(F):5'- TGCCTACTAACAGTTGTAACAAAAAC -3'
(R):5'- AAGTGCTCTGGCTGTCTTGTAAAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation