Incidental Mutation 'IGL00508:Hcrtr1'
| ID |
6566 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hcrtr1
|
| Ensembl Gene |
ENSMUSG00000028778 |
| Gene Name |
hypocretin (orexin) receptor 1 |
| Synonyms |
OX1R |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
IGL00508
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
130024010-130033152 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 130031062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 74
(N74I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030562]
[ENSMUST00000119423]
[ENSMUST00000120154]
[ENSMUST00000164887]
|
| AlphaFold |
P58307 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030562
AA Change: N74I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030562
Gene: ENSMUSG00000028778
AA Change: N74I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
63 |
358 |
8.8e-59 |
PFAM |
|
low complexity region
|
406 |
415 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119423
AA Change: N74I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112630
Gene: ENSMUSG00000028778
AA Change: N74I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
63 |
358 |
5.3e-56 |
PFAM |
|
low complexity region
|
406 |
415 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120154
AA Change: N74I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113198
Gene: ENSMUSG00000028778
AA Change: N74I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
63 |
358 |
8.8e-59 |
PFAM |
|
low complexity region
|
406 |
415 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164887
AA Change: N74I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127290
Gene: ENSMUSG00000028778
AA Change: N74I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
63 |
358 |
8.8e-59 |
PFAM |
|
low complexity region
|
406 |
415 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| 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 G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein selectively binds the hypothalamic neuropeptide orexin A. A related gene (HCRTR2) encodes a G-protein coupled receptor that binds orexin A and orexin B. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for one null allele display increased susceptibility to pharmacologically induced seizures. Mice homozygous for a second null allele display a decrease in depression like behavior. [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 |
|---|
| Adgrv1 |
A |
C |
13: 81,654,306 (GRCm39) |
D2188E |
probably damaging |
Het |
| Atrx |
A |
G |
X: 104,867,405 (GRCm39) |
S2026P |
probably damaging |
Het |
| Cacna1b |
A |
C |
2: 24,547,301 (GRCm39) |
|
probably null |
Het |
| Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,438,367 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
G |
2: 91,436,601 (GRCm39) |
V1567G |
probably damaging |
Het |
| Cyp2c38 |
A |
T |
19: 39,449,169 (GRCm39) |
Y61* |
probably null |
Het |
| D130052B06Rik |
A |
G |
11: 33,549,402 (GRCm39) |
E7G |
unknown |
Het |
| Dhx38 |
A |
G |
8: 110,283,566 (GRCm39) |
L527P |
possibly damaging |
Het |
| Dnaaf5 |
A |
G |
5: 139,163,701 (GRCm39) |
N653D |
probably benign |
Het |
| Dnah8 |
T |
G |
17: 31,074,904 (GRCm39) |
M4541R |
probably damaging |
Het |
| Dpyd |
A |
T |
3: 118,858,636 (GRCm39) |
T617S |
probably benign |
Het |
| Fpr2 |
A |
T |
17: 18,113,034 (GRCm39) |
N10I |
probably damaging |
Het |
| Frmd4a |
A |
T |
2: 4,599,545 (GRCm39) |
K524* |
probably null |
Het |
| Gpr45 |
C |
T |
1: 43,071,452 (GRCm39) |
P32S |
possibly damaging |
Het |
| H2-Eb2 |
A |
T |
17: 34,553,341 (GRCm39) |
I176F |
probably damaging |
Het |
| Ifi47 |
C |
T |
11: 48,986,241 (GRCm39) |
Q3* |
probably null |
Het |
| Krt8 |
T |
A |
15: 101,906,460 (GRCm39) |
M350L |
probably benign |
Het |
| Lilra6 |
A |
G |
7: 3,914,553 (GRCm39) |
S533P |
probably benign |
Het |
| Map1b |
A |
T |
13: 99,565,741 (GRCm39) |
S2327T |
unknown |
Het |
| Mcoln3 |
T |
A |
3: 145,839,683 (GRCm39) |
I345N |
probably damaging |
Het |
| Mettl3 |
C |
A |
14: 52,532,436 (GRCm39) |
|
probably benign |
Het |
| Mgat4a |
G |
A |
1: 37,488,204 (GRCm39) |
R472* |
probably null |
Het |
| Micall1 |
A |
G |
15: 79,014,768 (GRCm39) |
K715E |
probably damaging |
Het |
| Pak1 |
G |
T |
7: 97,503,775 (GRCm39) |
G37C |
probably benign |
Het |
| Pomt2 |
T |
G |
12: 87,166,401 (GRCm39) |
H426P |
probably damaging |
Het |
| Pou2f3 |
G |
A |
9: 43,051,258 (GRCm39) |
P155S |
probably benign |
Het |
| Psg25 |
A |
G |
7: 18,263,656 (GRCm39) |
Y56H |
probably benign |
Het |
| Rab9 |
G |
T |
X: 165,240,860 (GRCm39) |
Y150* |
probably null |
Het |
| Rhox2g |
T |
A |
X: 36,824,463 (GRCm39) |
N152I |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,498,844 (GRCm39) |
|
probably benign |
Het |
| Simc1 |
C |
A |
13: 54,672,989 (GRCm39) |
Q446K |
probably benign |
Het |
| Svs5 |
G |
T |
2: 164,078,962 (GRCm39) |
T315K |
possibly damaging |
Het |
| Syt9 |
C |
T |
7: 107,024,574 (GRCm39) |
R156* |
probably null |
Het |
| Tmem260 |
A |
T |
14: 48,746,578 (GRCm39) |
Y618F |
probably damaging |
Het |
| Wdr44 |
A |
G |
X: 23,666,783 (GRCm39) |
I719V |
possibly damaging |
Het |
| Zfp518a |
T |
G |
19: 40,901,914 (GRCm39) |
I614M |
probably damaging |
Het |
|
| Other mutations in Hcrtr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00754:Hcrtr1
|
APN |
4 |
130,031,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02005:Hcrtr1
|
APN |
4 |
130,031,056 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0084:Hcrtr1
|
UTSW |
4 |
130,031,059 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0590:Hcrtr1
|
UTSW |
4 |
130,029,487 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1531:Hcrtr1
|
UTSW |
4 |
130,024,720 (GRCm39) |
nonsense |
probably null |
|
|
R1659:Hcrtr1
|
UTSW |
4 |
130,029,129 (GRCm39) |
nonsense |
probably null |
|
|
R2055:Hcrtr1
|
UTSW |
4 |
130,024,680 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3028:Hcrtr1
|
UTSW |
4 |
130,029,604 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4488:Hcrtr1
|
UTSW |
4 |
130,029,556 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4967:Hcrtr1
|
UTSW |
4 |
130,024,792 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5301:Hcrtr1
|
UTSW |
4 |
130,031,463 (GRCm39) |
splice site |
probably null |
|
|
R5375:Hcrtr1
|
UTSW |
4 |
130,029,518 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5636:Hcrtr1
|
UTSW |
4 |
130,024,738 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6283:Hcrtr1
|
UTSW |
4 |
130,029,133 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6505:Hcrtr1
|
UTSW |
4 |
130,031,379 (GRCm39) |
missense |
probably benign |
|
|
R7018:Hcrtr1
|
UTSW |
4 |
130,029,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7042:Hcrtr1
|
UTSW |
4 |
130,024,653 (GRCm39) |
unclassified |
probably benign |
|
|
R7091:Hcrtr1
|
UTSW |
4 |
130,024,707 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7259:Hcrtr1
|
UTSW |
4 |
130,029,611 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7612:Hcrtr1
|
UTSW |
4 |
130,029,478 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8140:Hcrtr1
|
UTSW |
4 |
130,029,083 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9410:Hcrtr1
|
UTSW |
4 |
130,029,514 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9485:Hcrtr1
|
UTSW |
4 |
130,031,054 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1177:Hcrtr1
|
UTSW |
4 |
130,027,666 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation