Incidental Mutation 'R9604:Hcn2'
ID |
723837 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hcn2
|
Ensembl Gene |
ENSMUSG00000020331 |
Gene Name |
hyperpolarization-activated, cyclic nucleotide-gated K+ 2 |
Synonyms |
HAC1, trls |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9604 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
79552468-79571942 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79564787 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 400
(C400R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097113
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020581]
[ENSMUST00000099513]
|
AlphaFold |
O88703 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020581
AA Change: C400R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000020581 Gene: ENSMUSG00000020331 AA Change: C400R
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 damaging
Transcript: ENSMUST00000099513
AA Change: C400R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000097113 Gene: ENSMUSG00000020331 AA Change: C400R
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg7 |
A |
G |
16: 56,597,570 (GRCm39) |
F79S |
probably damaging |
Het |
Ankrd60 |
A |
T |
2: 173,412,987 (GRCm39) |
I167N |
probably benign |
Het |
Atp13a3 |
G |
T |
16: 30,168,506 (GRCm39) |
D494E |
probably damaging |
Het |
Cep83 |
A |
C |
10: 94,554,939 (GRCm39) |
H35P |
possibly damaging |
Het |
Cpne3 |
A |
G |
4: 19,555,477 (GRCm39) |
V6A |
probably benign |
Het |
Dnm3 |
G |
A |
1: 161,838,584 (GRCm39) |
A259V |
possibly damaging |
Het |
Eftud2 |
T |
C |
11: 102,737,056 (GRCm39) |
I575V |
probably benign |
Het |
Eif4g1 |
A |
G |
16: 20,500,255 (GRCm39) |
N676S |
possibly damaging |
Het |
Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
Gal3st4 |
T |
A |
5: 138,264,011 (GRCm39) |
K329N |
probably benign |
Het |
Gm15446 |
T |
C |
5: 110,088,314 (GRCm39) |
V9A |
probably damaging |
Het |
Golim4 |
A |
T |
3: 75,815,435 (GRCm39) |
|
probably null |
Het |
Harbi1 |
T |
C |
2: 91,542,689 (GRCm39) |
V50A |
probably damaging |
Het |
Heatr6 |
T |
C |
11: 83,668,188 (GRCm39) |
M894T |
probably damaging |
Het |
Hid1 |
A |
T |
11: 115,243,466 (GRCm39) |
H527Q |
|
Het |
Ifitm1 |
C |
T |
7: 140,548,227 (GRCm39) |
A20V |
probably benign |
Het |
Klk1b11 |
T |
A |
7: 43,427,850 (GRCm39) |
L213Q |
|
Het |
Lepr |
A |
G |
4: 101,590,473 (GRCm39) |
Y17C |
probably benign |
Het |
N4bp3 |
A |
T |
11: 51,536,493 (GRCm39) |
V113E |
probably damaging |
Het |
Neb |
C |
T |
2: 52,182,680 (GRCm39) |
R1062K |
probably benign |
Het |
Nlrp4b |
T |
A |
7: 10,444,295 (GRCm39) |
N81K |
probably benign |
Het |
Nol6 |
A |
G |
4: 41,120,298 (GRCm39) |
I473T |
probably benign |
Het |
Nsd1 |
T |
A |
13: 55,381,807 (GRCm39) |
S344T |
probably benign |
Het |
Pals2 |
C |
A |
6: 50,173,597 (GRCm39) |
A487E |
probably benign |
Het |
Pde12 |
A |
G |
14: 26,390,008 (GRCm39) |
Y234H |
possibly damaging |
Het |
Pla2g4e |
C |
T |
2: 120,015,680 (GRCm39) |
C288Y |
probably benign |
Het |
Plekhd1 |
A |
G |
12: 80,739,731 (GRCm39) |
T27A |
probably damaging |
Het |
Pls1 |
T |
A |
9: 95,644,057 (GRCm39) |
I480F |
probably damaging |
Het |
Prom1 |
A |
G |
5: 44,187,075 (GRCm39) |
I394T |
probably damaging |
Het |
Ros1 |
A |
T |
10: 51,994,249 (GRCm39) |
C1365S |
probably damaging |
Het |
Rpgrip1l |
G |
A |
8: 92,031,433 (GRCm39) |
T148M |
possibly damaging |
Het |
Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
Tap1 |
A |
C |
17: 34,412,172 (GRCm39) |
D459A |
probably damaging |
Het |
Tas2r125 |
T |
C |
6: 132,887,023 (GRCm39) |
I137T |
probably benign |
Het |
Tent5a |
C |
A |
9: 85,206,677 (GRCm39) |
V374L |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,159,827 (GRCm39) |
|
probably null |
Het |
Vmn1r172 |
T |
C |
7: 23,359,193 (GRCm39) |
I26T |
possibly 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 |
|
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 |
X0024:Hcn2
|
UTSW |
10 |
79,569,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGATGTTGCCTCACAGAGAATGC -3'
(R):5'- TTAGAACCAGGGGCTGCTTC -3'
Sequencing Primer
(F):5'- AGAGAATGCCCACGTCCTCTG -3'
(R):5'- AGATTCAGGGCCACCTCC -3'
|
Posted On |
2022-09-12 |