Incidental Mutation 'R4328:Hcn2'
ID |
324479 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hcn2
|
Ensembl Gene |
ENSMUSG00000020331 |
Gene Name |
hyperpolarization-activated, cyclic nucleotide-gated K+ 2 |
Synonyms |
HAC1, trls |
MMRRC Submission |
041098-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4328 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
79552468-79571942 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79560445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 259
(Y259H)
|
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: Y259H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020581 Gene: ENSMUSG00000020331 AA Change: Y259H
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: Y259H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097113 Gene: ENSMUSG00000020331 AA Change: Y259H
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 |
|
Meta Mutation Damage Score |
0.9173 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (56/57) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300009A05Rik |
T |
C |
9: 63,306,238 (GRCm39) |
K89R |
probably damaging |
Het |
Aadacl4fm2 |
T |
A |
4: 144,282,164 (GRCm39) |
K209N |
possibly damaging |
Het |
Alcam |
T |
C |
16: 52,073,579 (GRCm39) |
N549S |
possibly damaging |
Het |
Arap2 |
A |
T |
5: 62,779,206 (GRCm39) |
H1461Q |
possibly damaging |
Het |
Bin3 |
A |
G |
14: 70,356,054 (GRCm39) |
I4V |
probably benign |
Het |
Brd10 |
G |
T |
19: 29,720,961 (GRCm39) |
T688K |
probably benign |
Het |
C9orf72 |
T |
A |
4: 35,225,985 (GRCm39) |
|
probably benign |
Het |
Cd55 |
C |
T |
1: 130,375,104 (GRCm39) |
|
probably benign |
Het |
Cd55 |
A |
T |
1: 130,380,220 (GRCm39) |
C253S |
probably damaging |
Het |
Col12a1 |
T |
A |
9: 79,607,671 (GRCm39) |
T386S |
possibly damaging |
Het |
Col13a1 |
T |
C |
10: 61,699,758 (GRCm39) |
T476A |
unknown |
Het |
Crym |
C |
T |
7: 119,794,562 (GRCm39) |
G219E |
probably damaging |
Het |
Cwf19l2 |
A |
T |
9: 3,458,878 (GRCm39) |
I776F |
probably damaging |
Het |
Eif1ad16 |
T |
A |
12: 87,985,285 (GRCm39) |
D86V |
possibly damaging |
Het |
Erlec1 |
C |
T |
11: 30,899,972 (GRCm39) |
E166K |
probably benign |
Het |
Gm3336 |
C |
T |
8: 71,173,234 (GRCm39) |
T82I |
probably benign |
Het |
Gm3604 |
A |
T |
13: 62,517,079 (GRCm39) |
S425R |
possibly damaging |
Het |
Gpn2 |
T |
C |
4: 133,315,919 (GRCm39) |
V203A |
probably benign |
Het |
Gskip |
T |
C |
12: 105,666,960 (GRCm39) |
Y113H |
probably damaging |
Het |
Hira |
C |
A |
16: 18,715,362 (GRCm39) |
Q87K |
probably benign |
Het |
Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
Kirrel1 |
T |
C |
3: 86,992,081 (GRCm39) |
|
probably benign |
Het |
Klhl40 |
A |
G |
9: 121,607,956 (GRCm39) |
D372G |
probably benign |
Het |
Lingo2 |
T |
A |
4: 35,708,462 (GRCm39) |
D506V |
probably damaging |
Het |
Ly6e |
C |
A |
15: 74,830,370 (GRCm39) |
N73K |
probably damaging |
Het |
Med12l |
T |
C |
3: 59,172,688 (GRCm39) |
S1813P |
probably benign |
Het |
Med24 |
A |
G |
11: 98,597,942 (GRCm39) |
|
probably null |
Het |
Niban1 |
T |
C |
1: 151,512,169 (GRCm39) |
S24P |
possibly damaging |
Het |
Nup210l |
C |
A |
3: 90,083,142 (GRCm39) |
|
probably null |
Het |
Or2t1 |
T |
A |
14: 14,328,193 (GRCm38) |
F27L |
probably damaging |
Het |
Or5w12 |
C |
A |
2: 87,502,008 (GRCm39) |
R234S |
possibly damaging |
Het |
Or7g34 |
T |
A |
9: 19,478,318 (GRCm39) |
M121L |
possibly damaging |
Het |
Or8d1 |
T |
C |
9: 38,767,132 (GRCm39) |
M258T |
possibly damaging |
Het |
Pafah1b1 |
T |
C |
11: 74,573,066 (GRCm39) |
T333A |
probably benign |
Het |
Pak3 |
T |
C |
X: 142,516,205 (GRCm39) |
|
probably null |
Het |
Palm |
G |
A |
10: 79,643,520 (GRCm39) |
G83S |
probably benign |
Het |
Pax8 |
A |
G |
2: 24,331,663 (GRCm39) |
F140S |
possibly damaging |
Het |
Ppargc1b |
A |
T |
18: 61,515,540 (GRCm39) |
C34* |
probably null |
Het |
Ppp3cb |
A |
T |
14: 20,581,016 (GRCm39) |
I136K |
probably damaging |
Het |
Prep |
T |
C |
10: 44,996,745 (GRCm39) |
V341A |
probably benign |
Het |
Prickle4 |
C |
A |
17: 47,999,543 (GRCm39) |
G337C |
probably damaging |
Het |
Rabgap1 |
T |
A |
2: 37,422,627 (GRCm39) |
Y627N |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,782,484 (GRCm39) |
Y1953C |
probably damaging |
Het |
Snrnp200 |
T |
A |
2: 127,064,137 (GRCm39) |
V708D |
probably damaging |
Het |
Tent5b |
C |
T |
4: 133,213,914 (GRCm39) |
Q262* |
probably null |
Het |
Tmem107 |
G |
T |
11: 68,962,301 (GRCm39) |
|
probably null |
Het |
Tmem62 |
T |
A |
2: 120,810,991 (GRCm39) |
N156K |
probably damaging |
Het |
Ttyh1 |
A |
T |
7: 4,133,580 (GRCm39) |
D295V |
probably damaging |
Het |
Twsg1 |
T |
C |
17: 66,255,733 (GRCm39) |
T14A |
probably benign |
Het |
Zfp184 |
T |
C |
13: 22,144,072 (GRCm39) |
Y593H |
probably damaging |
Het |
Zfp239 |
T |
C |
6: 117,848,745 (GRCm39) |
L161P |
probably damaging |
Het |
Zpbp2 |
A |
G |
11: 98,448,432 (GRCm39) |
T199A |
probably benign |
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 |
|
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'- TGGGACTTCACCATGCTGTTG -3'
(R):5'- GGTGGATATATCGGATGAGCC -3'
Sequencing Primer
(F):5'- GGAAATCTCATTATCATTCCCGTGGG -3'
(R):5'- ATGAGCCGTGATAGCCGCAG -3'
|
Posted On |
2015-06-24 |