Incidental Mutation 'R4488:Hcrtr1'
| ID |
330587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hcrtr1
|
| Ensembl Gene |
ENSMUSG00000028778 |
| Gene Name |
hypocretin (orexin) receptor 1 |
| Synonyms |
OX1R |
| MMRRC Submission |
041744-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R4488 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
130024010-130033152 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130029556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 175
(V175A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030562]
[ENSMUST00000119423]
[ENSMUST00000120154]
[ENSMUST00000164887]
|
| AlphaFold |
P58307 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030562
AA Change: V175A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000030562
Gene: ENSMUSG00000028778
AA Change: V175A
| 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 benign
Transcript: ENSMUST00000119423
AA Change: V175A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000112630
Gene: ENSMUSG00000028778
AA Change: V175A
| 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 benign
Transcript: ENSMUST00000120154
AA Change: V175A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000113198
Gene: ENSMUSG00000028778
AA Change: V175A
| 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 benign
Transcript: ENSMUST00000164887
AA Change: V175A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000127290
Gene: ENSMUSG00000028778
AA Change: V175A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
63 |
358 |
8.8e-59 |
PFAM |
|
low complexity region
|
406 |
415 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
95% (38/40) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkal1 |
A |
T |
1: 6,429,631 (GRCm39) |
Q26L |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,058,082 (GRCm39) |
Q3224L |
probably null |
Het |
| Brox |
A |
G |
1: 183,062,514 (GRCm39) |
L280S |
probably benign |
Het |
| Cep41 |
A |
T |
6: 30,655,688 (GRCm39) |
|
probably benign |
Het |
| Cryz |
C |
A |
3: 154,324,094 (GRCm39) |
|
probably benign |
Het |
| Cyp26c1 |
T |
C |
19: 37,681,658 (GRCm39) |
V487A |
probably benign |
Het |
| Dlx6 |
T |
C |
6: 6,867,207 (GRCm39) |
M270T |
probably damaging |
Het |
| Glb1 |
T |
C |
9: 114,272,182 (GRCm39) |
I273T |
probably damaging |
Het |
| Glp1r |
A |
C |
17: 31,137,905 (GRCm39) |
H112P |
probably benign |
Het |
| Grm6 |
T |
C |
11: 50,750,816 (GRCm39) |
S660P |
probably damaging |
Het |
| Hao2 |
T |
A |
3: 98,789,341 (GRCm39) |
I116F |
probably damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Kifbp |
A |
G |
10: 62,398,806 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,299,400 (GRCm39) |
T1878I |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,249,396 (GRCm39) |
F1303L |
possibly damaging |
Het |
| Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
| Nutf2 |
T |
A |
8: 106,603,059 (GRCm39) |
|
probably null |
Het |
| Or52e7 |
T |
C |
7: 104,684,510 (GRCm39) |
F35S |
probably benign |
Het |
| Rbm45 |
T |
C |
2: 76,206,740 (GRCm39) |
S251P |
probably damaging |
Het |
| Rnaset2b |
A |
G |
17: 7,265,469 (GRCm39) |
Y155C |
probably damaging |
Het |
| Rnf122 |
A |
G |
8: 31,618,283 (GRCm39) |
T92A |
probably damaging |
Het |
| Rnf220 |
A |
G |
4: 117,347,011 (GRCm39) |
S134P |
probably damaging |
Het |
| Shprh |
A |
T |
10: 11,036,215 (GRCm39) |
I351F |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Sulf1 |
G |
T |
1: 12,856,739 (GRCm39) |
|
probably benign |
Het |
| Svil |
T |
C |
18: 5,049,067 (GRCm39) |
Y202H |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,737,993 (GRCm39) |
D681G |
possibly damaging |
Het |
| Tra2a |
A |
G |
6: 49,229,428 (GRCm39) |
|
probably benign |
Het |
| Vcp |
A |
T |
4: 42,993,826 (GRCm39) |
I102N |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,799,819 (GRCm39) |
I841N |
probably damaging |
Het |
| Zfp949 |
T |
C |
9: 88,452,142 (GRCm39) |
S571P |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,957,431 (GRCm39) |
E571G |
possibly damaging |
Het |
| Zup1 |
G |
A |
10: 33,824,960 (GRCm39) |
T174I |
probably damaging |
Het |
|
| Other mutations in Hcrtr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00508:Hcrtr1
|
APN |
4 |
130,031,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTCACACTAGAGGAGATACC -3'
(R):5'- CTGGGCTGTGAACTGTTTCC -3'
Sequencing Primer
(F):5'- GGAGATACCTACCCTGGGG -3'
(R):5'- CCGCCCTACCTCTGATGTTGTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation