Incidental Mutation 'R3622:Htr1d'
| ID |
268662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Htr1d
|
| Ensembl Gene |
ENSMUSG00000070687 |
| Gene Name |
5-hydroxytryptamine (serotonin) receptor 1D |
| Synonyms |
Htr1db, Gpcr14 |
| MMRRC Submission |
040677-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3622 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
136150835-136171709 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 136170815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 348
(I348T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088677]
[ENSMUST00000117699]
[ENSMUST00000121571]
|
| AlphaFold |
Q61224 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088677
AA Change: I348T
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000086052
Gene: ENSMUSG00000070687
AA Change: I348T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
46 |
368 |
1.2e-11 |
PFAM |
|
Pfam:7tm_1
|
52 |
353 |
1.2e-75 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117699
AA Change: I348T
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112840
Gene: ENSMUSG00000070687
AA Change: I348T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
46 |
368 |
1.2e-11 |
PFAM |
|
Pfam:7tm_1
|
52 |
353 |
2.7e-86 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121571
AA Change: I348T
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112402
Gene: ENSMUSG00000070687
AA Change: I348T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
46 |
368 |
1.2e-11 |
PFAM |
|
Pfam:7tm_1
|
52 |
353 |
2.7e-86 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133818
|
| Meta Mutation Damage Score |
0.5631 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,950,036 (GRCm39) |
Y503* |
probably null |
Het |
| Akap9 |
C |
A |
5: 4,026,235 (GRCm39) |
Q1297K |
possibly damaging |
Het |
| Dffb |
T |
C |
4: 154,049,976 (GRCm39) |
T296A |
probably damaging |
Het |
| Dpf1 |
G |
A |
7: 29,015,631 (GRCm39) |
|
probably null |
Het |
| Elp1 |
A |
T |
4: 56,759,925 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
T |
C |
5: 143,371,774 (GRCm39) |
S666P |
probably damaging |
Het |
| Gucy2e |
T |
A |
11: 69,115,877 (GRCm39) |
E835V |
probably damaging |
Het |
| Hdac5 |
G |
A |
11: 102,086,644 (GRCm39) |
P120S |
probably benign |
Het |
| Hyal4 |
A |
T |
6: 24,765,737 (GRCm39) |
S364C |
probably damaging |
Het |
| Igkv1-133 |
A |
T |
6: 67,701,944 (GRCm39) |
Q16L |
probably benign |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Met |
A |
T |
6: 17,549,085 (GRCm39) |
D979V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,772,245 (GRCm39) |
T1702A |
probably damaging |
Het |
| Midn |
A |
G |
10: 79,986,144 (GRCm39) |
D78G |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,405,595 (GRCm39) |
|
probably benign |
Het |
| Oma1 |
T |
C |
4: 103,223,288 (GRCm39) |
I491T |
probably benign |
Het |
| Or1e30 |
A |
G |
11: 73,678,567 (GRCm39) |
T268A |
probably benign |
Het |
| Or5ak24 |
C |
T |
2: 85,260,837 (GRCm39) |
C112Y |
probably benign |
Het |
| Or5b107 |
T |
A |
19: 13,143,020 (GRCm39) |
M214K |
probably benign |
Het |
| Or8b48 |
A |
G |
9: 38,492,792 (GRCm39) |
Y73C |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,897,470 (GRCm39) |
L57P |
probably damaging |
Het |
| Phka2 |
T |
A |
X: 159,327,291 (GRCm39) |
Y334* |
probably null |
Het |
| Plin4 |
G |
T |
17: 56,411,112 (GRCm39) |
T973K |
possibly damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,515 (GRCm39) |
R143H |
possibly damaging |
Het |
| Rps18 |
G |
C |
17: 34,171,247 (GRCm39) |
|
probably null |
Het |
| Samd9l |
A |
T |
6: 3,374,032 (GRCm39) |
C1076* |
probably null |
Het |
| Scml4 |
T |
C |
10: 42,806,607 (GRCm39) |
|
probably benign |
Het |
| Slc16a10 |
A |
G |
10: 40,017,890 (GRCm39) |
V48A |
probably benign |
Het |
| Slc6a5 |
T |
C |
7: 49,567,371 (GRCm39) |
V275A |
probably benign |
Het |
| Smad9 |
C |
T |
3: 54,696,705 (GRCm39) |
R257W |
probably damaging |
Het |
| Snrpb |
C |
A |
2: 130,017,299 (GRCm39) |
R73L |
probably null |
Het |
| Srsf9 |
C |
T |
5: 115,468,571 (GRCm39) |
A69V |
probably damaging |
Het |
| Stfa2 |
A |
G |
16: 36,224,433 (GRCm39) |
Y90H |
probably damaging |
Het |
| Tgm6 |
T |
A |
2: 129,993,681 (GRCm39) |
V640E |
possibly damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,640,451 (GRCm39) |
R1414C |
probably damaging |
Het |
| Tyk2 |
A |
T |
9: 21,038,606 (GRCm39) |
C8S |
probably damaging |
Het |
| Upp2 |
G |
A |
2: 58,680,128 (GRCm39) |
R300Q |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,593,855 (GRCm39) |
|
probably benign |
Het |
| Veph1 |
C |
T |
3: 66,122,858 (GRCm39) |
V224I |
probably benign |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,437 (GRCm39) |
F132I |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,605,025 (GRCm39) |
S113G |
probably benign |
Het |
| Vps53 |
A |
C |
11: 76,008,609 (GRCm39) |
V237G |
probably benign |
Het |
|
| Other mutations in Htr1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01375:Htr1d
|
APN |
4 |
136,170,484 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01818:Htr1d
|
APN |
4 |
136,170,197 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01952:Htr1d
|
APN |
4 |
136,170,872 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02696:Htr1d
|
APN |
4 |
136,170,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0112:Htr1d
|
UTSW |
4 |
136,170,311 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0147:Htr1d
|
UTSW |
4 |
136,170,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Htr1d
|
UTSW |
4 |
136,170,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2483:Htr1d
|
UTSW |
4 |
136,170,815 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2764:Htr1d
|
UTSW |
4 |
136,170,376 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3623:Htr1d
|
UTSW |
4 |
136,170,815 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3624:Htr1d
|
UTSW |
4 |
136,170,815 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3894:Htr1d
|
UTSW |
4 |
136,170,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4567:Htr1d
|
UTSW |
4 |
136,170,836 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4735:Htr1d
|
UTSW |
4 |
136,170,197 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6190:Htr1d
|
UTSW |
4 |
136,170,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7011:Htr1d
|
UTSW |
4 |
136,170,317 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7123:Htr1d
|
UTSW |
4 |
136,169,664 (GRCm39) |
start gained |
probably benign |
|
|
R7223:Htr1d
|
UTSW |
4 |
136,170,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7328:Htr1d
|
UTSW |
4 |
136,170,614 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8399:Htr1d
|
UTSW |
4 |
136,170,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8514:Htr1d
|
UTSW |
4 |
136,170,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8829:Htr1d
|
UTSW |
4 |
136,170,554 (GRCm39) |
missense |
probably benign |
|
|
R8982:Htr1d
|
UTSW |
4 |
136,170,866 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9497:Htr1d
|
UTSW |
4 |
136,169,663 (GRCm39) |
start gained |
probably benign |
|
|
R9505:Htr1d
|
UTSW |
4 |
136,170,889 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGGTGAAAATCAAGCTTGC -3'
(R):5'- ACCCGGGTCTCAGAGAAATG -3'
Sequencing Primer
(F):5'- TCCTAGAACGCAAGAGGATCTCTG -3'
(R):5'- GGCAGTAATTTTTAAAAAGGCAACCC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation