Incidental Mutation 'R2277:Hcn3'
ID |
242846 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hcn3
|
Ensembl Gene |
ENSMUSG00000028051 |
Gene Name |
hyperpolarization-activated, cyclic nucleotide-gated K+ 3 |
Synonyms |
Hac3 |
MMRRC Submission |
040276-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.378)
|
Stock # |
R2277 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
89054082-89067538 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 89055168 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 693
(R693L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029686
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029686]
[ENSMUST00000047111]
[ENSMUST00000107482]
|
AlphaFold |
O88705 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029686
AA Change: R693L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000029686 Gene: ENSMUSG00000028051 AA Change: R693L
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
32 |
N/A |
INTRINSIC |
Pfam:Ion_trans_N
|
48 |
91 |
1.3e-22 |
PFAM |
Pfam:Ion_trans
|
92 |
357 |
3.7e-25 |
PFAM |
low complexity region
|
358 |
369 |
N/A |
INTRINSIC |
Blast:cNMP
|
370 |
402 |
7e-14 |
BLAST |
cNMP
|
427 |
540 |
2.32e-20 |
SMART |
Blast:cNMP
|
548 |
588 |
2e-17 |
BLAST |
low complexity region
|
636 |
656 |
N/A |
INTRINSIC |
low complexity region
|
698 |
717 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000047111
|
SMART Domains |
Protein: ENSMUSP00000035417 Gene: ENSMUSG00000041237
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
Pfam:PK
|
85 |
438 |
6.9e-165 |
PFAM |
Pfam:PK_C
|
453 |
571 |
3.6e-33 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107482
|
SMART Domains |
Protein: ENSMUSP00000103106 Gene: ENSMUSG00000041237
Domain | Start | End | E-Value | Type |
Pfam:PK
|
54 |
407 |
3.1e-163 |
PFAM |
Pfam:PK_C
|
421 |
541 |
4.9e-29 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127654
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132156
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133368
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-pass membrane protein that functions as a voltage gated cation channel. The encoded protein is a member of a family of closely related cyclic adenosine monophosphate-binding channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal ventricular action potential waveform. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd13d |
T |
C |
19: 4,331,012 (GRCm39) |
H165R |
probably benign |
Het |
Arhgap21 |
T |
C |
2: 20,868,037 (GRCm39) |
I829V |
possibly damaging |
Het |
Atxn1 |
T |
C |
13: 45,710,544 (GRCm39) |
N796S |
probably damaging |
Het |
Bdp1 |
C |
A |
13: 100,197,838 (GRCm39) |
S849I |
probably benign |
Het |
Bdp1 |
T |
A |
13: 100,197,847 (GRCm39) |
E846V |
probably damaging |
Het |
Cdh4 |
C |
A |
2: 179,439,317 (GRCm39) |
H155N |
possibly damaging |
Het |
Cela3a |
T |
C |
4: 137,133,187 (GRCm39) |
I62V |
possibly damaging |
Het |
Cr2 |
T |
C |
1: 194,839,676 (GRCm39) |
R960G |
possibly damaging |
Het |
Ddx42 |
T |
A |
11: 106,133,765 (GRCm39) |
D580E |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 117,987,387 (GRCm39) |
K1308E |
possibly damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Gh |
T |
C |
11: 106,191,613 (GRCm39) |
E143G |
probably damaging |
Het |
Hdlbp |
G |
A |
1: 93,335,900 (GRCm39) |
R1199* |
probably null |
Het |
Hook2 |
C |
T |
8: 85,729,560 (GRCm39) |
Q667* |
probably null |
Het |
Ibtk |
T |
C |
9: 85,585,204 (GRCm39) |
I1147V |
probably benign |
Het |
Itpk1 |
T |
C |
12: 102,536,519 (GRCm39) |
T376A |
probably benign |
Het |
Lars1 |
C |
T |
18: 42,368,567 (GRCm39) |
V425I |
probably benign |
Het |
Lgi4 |
T |
G |
7: 30,760,037 (GRCm39) |
L78V |
probably damaging |
Het |
Madd |
A |
T |
2: 90,974,028 (GRCm39) |
C1419S |
possibly damaging |
Het |
Mamld1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA |
X: 70,162,421 (GRCm39) |
|
probably benign |
Het |
Mpp2 |
T |
C |
11: 101,955,127 (GRCm39) |
E166G |
probably damaging |
Het |
Mrgprb5 |
A |
G |
7: 47,818,579 (GRCm39) |
L52P |
probably damaging |
Het |
Nlrp2 |
T |
C |
7: 5,331,128 (GRCm39) |
T423A |
probably benign |
Het |
Nphs1 |
T |
A |
7: 30,166,989 (GRCm39) |
L732* |
probably null |
Het |
Pcdhb10 |
T |
C |
18: 37,545,677 (GRCm39) |
I251T |
possibly damaging |
Het |
Plcg1 |
T |
A |
2: 160,597,725 (GRCm39) |
M789K |
possibly damaging |
Het |
Pom121l2 |
T |
C |
13: 22,168,417 (GRCm39) |
I896T |
probably benign |
Het |
Ptpn4 |
T |
C |
1: 119,612,321 (GRCm39) |
D24G |
probably damaging |
Het |
Rbm28 |
T |
C |
6: 29,135,513 (GRCm39) |
|
probably null |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rhebl1 |
A |
T |
15: 98,776,167 (GRCm39) |
D162E |
probably benign |
Het |
Runx1t1 |
T |
C |
4: 13,771,501 (GRCm39) |
V15A |
probably benign |
Het |
Serpina10 |
T |
A |
12: 103,593,002 (GRCm39) |
I291F |
probably benign |
Het |
Slc23a2 |
A |
G |
2: 131,933,179 (GRCm39) |
I93T |
possibly damaging |
Het |
Slc25a29 |
T |
C |
12: 108,792,852 (GRCm39) |
E242G |
probably benign |
Het |
Sulf1 |
A |
C |
1: 12,867,018 (GRCm39) |
R67S |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,974,240 (GRCm39) |
E1146G |
possibly damaging |
Het |
Tmem45a |
A |
T |
16: 56,643,882 (GRCm39) |
L89Q |
probably damaging |
Het |
Top3a |
A |
C |
11: 60,636,700 (GRCm39) |
V655G |
possibly damaging |
Het |
Ttc23l |
A |
G |
15: 10,523,678 (GRCm39) |
I347T |
possibly damaging |
Het |
|
Other mutations in Hcn3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01621:Hcn3
|
APN |
3 |
89,055,030 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02285:Hcn3
|
APN |
3 |
89,060,119 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02557:Hcn3
|
APN |
3 |
89,057,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R0027:Hcn3
|
UTSW |
3 |
89,067,132 (GRCm39) |
missense |
probably damaging |
0.99 |
R0189:Hcn3
|
UTSW |
3 |
89,056,107 (GRCm39) |
missense |
probably damaging |
0.98 |
R0442:Hcn3
|
UTSW |
3 |
89,058,847 (GRCm39) |
missense |
probably damaging |
0.97 |
R0454:Hcn3
|
UTSW |
3 |
89,060,201 (GRCm39) |
missense |
probably damaging |
0.98 |
R0732:Hcn3
|
UTSW |
3 |
89,056,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R1732:Hcn3
|
UTSW |
3 |
89,055,426 (GRCm39) |
missense |
probably damaging |
0.97 |
R1900:Hcn3
|
UTSW |
3 |
89,055,570 (GRCm39) |
missense |
probably benign |
0.00 |
R2279:Hcn3
|
UTSW |
3 |
89,055,168 (GRCm39) |
missense |
probably benign |
0.02 |
R2331:Hcn3
|
UTSW |
3 |
89,055,397 (GRCm39) |
missense |
probably benign |
0.01 |
R2916:Hcn3
|
UTSW |
3 |
89,054,920 (GRCm39) |
missense |
probably benign |
|
R2918:Hcn3
|
UTSW |
3 |
89,054,920 (GRCm39) |
missense |
probably benign |
|
R4604:Hcn3
|
UTSW |
3 |
89,057,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R4749:Hcn3
|
UTSW |
3 |
89,057,370 (GRCm39) |
splice site |
probably null |
|
R5095:Hcn3
|
UTSW |
3 |
89,057,230 (GRCm39) |
missense |
probably damaging |
0.99 |
R5776:Hcn3
|
UTSW |
3 |
89,055,412 (GRCm39) |
missense |
probably benign |
0.03 |
R5984:Hcn3
|
UTSW |
3 |
89,055,570 (GRCm39) |
missense |
probably benign |
0.00 |
R6389:Hcn3
|
UTSW |
3 |
89,058,240 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6736:Hcn3
|
UTSW |
3 |
89,059,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R6860:Hcn3
|
UTSW |
3 |
89,067,152 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6909:Hcn3
|
UTSW |
3 |
89,059,936 (GRCm39) |
critical splice donor site |
probably null |
|
R7549:Hcn3
|
UTSW |
3 |
89,057,307 (GRCm39) |
missense |
probably null |
0.51 |
R9090:Hcn3
|
UTSW |
3 |
89,057,267 (GRCm39) |
missense |
probably damaging |
0.99 |
R9271:Hcn3
|
UTSW |
3 |
89,057,267 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATGTTGGCAGAAATTTGGG -3'
(R):5'- ATAGCCTTGACTCACCAGCG -3'
Sequencing Primer
(F):5'- TCCCTGGAGGTTTGGCCAAG -3'
(R):5'- TTGACTCACCAGCGAGGCC -3'
|
Posted On |
2014-10-16 |