Incidental Mutation 'R7706:Hcn2'
| ID |
594287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hcn2
|
| Ensembl Gene |
ENSMUSG00000020331 |
| Gene Name |
hyperpolarization-activated, cyclic nucleotide-gated K+ 2 |
| Synonyms |
HAC1, trls |
| MMRRC Submission |
045767-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7706 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79552468-79571942 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79570017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 622
(R622Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020580]
[ENSMUST00000020581]
[ENSMUST00000099513]
[ENSMUST00000159016]
[ENSMUST00000162694]
|
| AlphaFold |
O88703 |
| Predicted Effect |
probably benign
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: R622Q
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000020581
Gene: ENSMUSG00000020331
AA Change: R622Q
| 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: R622Q
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097113
Gene: ENSMUSG00000020331
AA Change: R622Q
| 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 benign
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 |
probably benign
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (52/53) |
| 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 |
|---|
| 1600014C23Rik |
G |
A |
17: 46,044,583 (GRCm39) |
T46I |
unknown |
Het |
| Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
| Atxn7l2 |
T |
C |
3: 108,114,719 (GRCm39) |
D109G |
probably damaging |
Het |
| B4galnt3 |
C |
A |
6: 120,195,913 (GRCm39) |
V305L |
probably benign |
Het |
| C9 |
T |
A |
15: 6,488,402 (GRCm39) |
N85K |
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,305,867 (GRCm39) |
I1941V |
probably benign |
Het |
| Capn15 |
A |
G |
17: 26,183,125 (GRCm39) |
V518A |
probably benign |
Het |
| Chst10 |
A |
T |
1: 38,905,106 (GRCm39) |
Y200N |
probably damaging |
Het |
| Ciao3 |
T |
C |
17: 26,001,226 (GRCm39) |
*493Q |
probably null |
Het |
| Cir1 |
A |
G |
2: 73,142,823 (GRCm39) |
S4P |
probably damaging |
Het |
| Cish |
G |
A |
9: 107,177,840 (GRCm39) |
R172Q |
probably benign |
Het |
| Cnot10 |
A |
T |
9: 114,422,506 (GRCm39) |
N693K |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,538,939 (GRCm39) |
D249G |
probably damaging |
Het |
| Dennd6b |
T |
C |
15: 89,069,447 (GRCm39) |
D528G |
probably benign |
Het |
| Dmtf1 |
T |
A |
5: 9,174,489 (GRCm39) |
T484S |
possibly damaging |
Het |
| Dnaaf5 |
T |
C |
5: 139,138,596 (GRCm39) |
V259A |
probably damaging |
Het |
| Dzip1l |
A |
T |
9: 99,519,589 (GRCm39) |
S39C |
probably damaging |
Het |
| Efcab8 |
T |
A |
2: 153,623,695 (GRCm39) |
M60K |
|
Het |
| Eml2 |
T |
A |
7: 18,920,035 (GRCm39) |
V113D |
possibly damaging |
Het |
| Fnip1 |
A |
T |
11: 54,406,325 (GRCm39) |
I1141F |
probably benign |
Het |
| Gm7298 |
T |
A |
6: 121,712,570 (GRCm39) |
S127R |
probably damaging |
Het |
| Ift172 |
C |
T |
5: 31,423,723 (GRCm39) |
W746* |
probably null |
Het |
| Irs1 |
A |
G |
1: 82,265,412 (GRCm39) |
Y935H |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Klhl20 |
T |
C |
1: 160,936,827 (GRCm39) |
I183V |
probably benign |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lalba |
T |
C |
15: 98,379,474 (GRCm39) |
D103G |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,747,210 (GRCm39) |
L822P |
probably damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,076,845 (GRCm39) |
C36Y |
probably damaging |
Het |
| Ly6e |
T |
C |
15: 74,830,183 (GRCm39) |
S46P |
possibly damaging |
Het |
| Nav2 |
T |
C |
7: 49,244,067 (GRCm39) |
I2098T |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,381,010 (GRCm39) |
E594G |
probably benign |
Het |
| Or52k2 |
T |
A |
7: 102,253,853 (GRCm39) |
H97Q |
probably benign |
Het |
| Parn |
T |
C |
16: 13,425,117 (GRCm39) |
D432G |
probably damaging |
Het |
| Pcdh20 |
A |
G |
14: 88,704,793 (GRCm39) |
S836P |
probably damaging |
Het |
| Pcmtd2 |
C |
T |
2: 181,496,868 (GRCm39) |
R282C |
probably damaging |
Het |
| Ppp2r3c |
A |
G |
12: 55,328,490 (GRCm39) |
I425T |
probably benign |
Het |
| Samm50 |
T |
A |
15: 84,085,081 (GRCm39) |
|
probably null |
Het |
| Sars1 |
C |
T |
3: 108,338,780 (GRCm39) |
|
probably null |
Het |
| Senp8 |
A |
G |
9: 59,645,121 (GRCm39) |
Y12H |
possibly damaging |
Het |
| Slc13a4 |
T |
C |
6: 35,247,290 (GRCm39) |
I577V |
possibly damaging |
Het |
| Srr |
T |
G |
11: 74,803,961 (GRCm39) |
|
probably null |
Het |
| Steap2 |
T |
A |
5: 5,732,967 (GRCm39) |
N19I |
possibly damaging |
Het |
| Sucla2 |
A |
G |
14: 73,806,433 (GRCm39) |
Y168C |
probably damaging |
Het |
| Tha1 |
T |
C |
11: 117,760,281 (GRCm39) |
Q275R |
probably damaging |
Het |
| Trim56 |
T |
C |
5: 137,143,510 (GRCm39) |
N2S |
probably benign |
Het |
| Tubgcp6 |
T |
A |
15: 88,988,426 (GRCm39) |
H849L |
probably benign |
Het |
| Uevld |
A |
G |
7: 46,597,775 (GRCm39) |
I72T |
possibly damaging |
Het |
| Ybx1 |
A |
G |
4: 119,136,164 (GRCm39) |
*323Q |
probably null |
Het |
| Zfp354b |
C |
T |
11: 50,819,390 (GRCm39) |
|
probably null |
Het |
| Zfp36l2 |
A |
T |
17: 84,494,346 (GRCm39) |
L97Q |
probably benign |
Het |
| Zfp729a |
T |
A |
13: 67,771,612 (GRCm39) |
R78S |
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 |
|
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'- GCAGGCAGTGGCATAGTTTG -3'
(R):5'- TATTGAGCCTGAGCCGTTC -3'
Sequencing Primer
(F):5'- CATAGTTTGGCTGCTGAGGC -3'
(R):5'- ACCAGGCCCTGTGATTCTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation