Incidental Mutation 'R4051:Hcn2'
ID |
314170 |
Institutional Source |
Beutler Lab
|
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 # |
R4051 ()
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
79552468-79571942 bp(+) (GRCm39) |
Type of Mutation |
splice site (2440 bp from exon) |
DNA Base Change (assembly) |
A to C
at 79569521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020580]
[ENSMUST00000020581]
[ENSMUST00000099513]
[ENSMUST00000159016]
[ENSMUST00000162694]
|
AlphaFold |
O88703 |
Predicted Effect |
probably null
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 |
possibly damaging
Transcript: ENSMUST00000020581
AA Change: N507T
PolyPhen 2
Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000020581 Gene: ENSMUSG00000020331 AA Change: N507T
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 |
possibly damaging
Transcript: ENSMUST00000099513
AA Change: N507T
PolyPhen 2
Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000097113 Gene: ENSMUSG00000020331 AA Change: N507T
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 null
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: ENSMUST00000162679
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160595
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160838
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161765
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162687
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161098
|
Predicted Effect |
probably null
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
C |
7: 45,635,987 (GRCm39) |
L1020R |
probably damaging |
Het |
Ahnak |
A |
C |
19: 8,991,691 (GRCm39) |
D4325A |
probably damaging |
Het |
Chtf18 |
A |
G |
17: 25,938,168 (GRCm39) |
V955A |
probably damaging |
Het |
Dclk2 |
A |
G |
3: 86,738,129 (GRCm39) |
|
probably null |
Het |
Disc1 |
A |
G |
8: 125,875,164 (GRCm39) |
T547A |
possibly damaging |
Het |
Eif4b |
A |
G |
15: 101,995,039 (GRCm39) |
Y211C |
probably benign |
Het |
Fli1 |
T |
G |
9: 32,363,458 (GRCm39) |
D176A |
probably benign |
Het |
Ice1 |
A |
G |
13: 70,751,646 (GRCm39) |
V1480A |
probably damaging |
Het |
Ier5l |
A |
C |
2: 30,363,324 (GRCm39) |
S234A |
probably benign |
Het |
Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
Itga11 |
C |
T |
9: 62,662,933 (GRCm39) |
Q550* |
probably null |
Het |
Kdr |
T |
A |
5: 76,129,068 (GRCm39) |
M193L |
probably benign |
Het |
Kif3b |
G |
A |
2: 153,165,477 (GRCm39) |
R628Q |
probably damaging |
Het |
Ldlrad3 |
C |
T |
2: 101,783,507 (GRCm39) |
D240N |
probably damaging |
Het |
Met |
T |
C |
6: 17,548,728 (GRCm39) |
V924A |
possibly damaging |
Het |
Or52m1 |
T |
C |
7: 102,290,233 (GRCm39) |
V260A |
possibly damaging |
Het |
Peg10 |
T |
C |
6: 4,754,534 (GRCm39) |
L105P |
probably benign |
Het |
Phtf1 |
A |
G |
3: 103,912,824 (GRCm39) |
T717A |
possibly damaging |
Het |
Ptafr |
T |
C |
4: 132,307,305 (GRCm39) |
W232R |
probably benign |
Het |
Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
Slamf7 |
T |
C |
1: 171,464,951 (GRCm39) |
K261E |
possibly damaging |
Het |
Slc9c1 |
T |
A |
16: 45,363,593 (GRCm39) |
Y120N |
probably damaging |
Het |
Sstr2 |
A |
C |
11: 113,515,482 (GRCm39) |
T134P |
probably damaging |
Het |
Steap4 |
A |
G |
5: 8,030,404 (GRCm39) |
Y420C |
probably damaging |
Het |
Tbc1d9b |
T |
C |
11: 50,062,070 (GRCm39) |
C1210R |
probably benign |
Het |
Tnfsf10 |
T |
A |
3: 27,389,503 (GRCm39) |
I188N |
probably damaging |
Het |
Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
Usp46 |
T |
C |
5: 74,163,416 (GRCm39) |
N283S |
probably benign |
Het |
Vmn2r84 |
T |
G |
10: 130,226,767 (GRCm39) |
N357T |
probably damaging |
Het |
Zfp217 |
T |
C |
2: 169,954,536 (GRCm39) |
|
probably null |
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 |
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'- CCTATGGTGGTATGGGGACTACAG -3'
(R):5'- AGCCATCCGACAGCTTCATC -3'
Sequencing Primer
(F):5'- GGGGACTACAGACTTTCCTGTATAC -3'
(R):5'- TTGCCCTTGGTGAGCAC -3'
|
Posted On |
2015-04-30 |