Incidental Mutation 'R4567:Htr1d'
| ID |
343340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Htr1d
|
| Ensembl Gene |
ENSMUSG00000070687 |
| Gene Name |
5-hydroxytryptamine (serotonin) receptor 1D |
| Synonyms |
Htr1db, Gpcr14 |
| MMRRC Submission |
041791-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4567 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
136150835-136171709 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 136170836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 355
(V355E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088677]
[ENSMUST00000117699]
[ENSMUST00000121571]
|
| AlphaFold |
Q61224 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088677
AA Change: V355E
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000086052
Gene: ENSMUSG00000070687
AA Change: V355E
| 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 benign
Transcript: ENSMUST00000117699
AA Change: V355E
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112840
Gene: ENSMUSG00000070687
AA Change: V355E
| 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 benign
Transcript: ENSMUST00000121571
AA Change: V355E
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112402
Gene: ENSMUSG00000070687
AA Change: V355E
| 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 |
0.4376 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
95% (38/40) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16a |
T |
A |
17: 35,315,499 (GRCm39) |
L182Q |
probably damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Alg12 |
T |
C |
15: 88,690,556 (GRCm39) |
|
probably benign |
Het |
| Asmt |
A |
G |
X: 169,110,261 (GRCm39) |
|
probably null |
Het |
| Atp10b |
T |
C |
11: 43,088,384 (GRCm39) |
I330T |
probably benign |
Het |
| Ceacam23 |
T |
C |
7: 17,642,891 (GRCm39) |
S434P |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,498,942 (GRCm39) |
M998V |
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,414,944 (GRCm39) |
S401P |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,023,716 (GRCm39) |
T56S |
probably benign |
Het |
| Gm1527 |
A |
T |
3: 28,968,556 (GRCm39) |
N203Y |
probably damaging |
Het |
| Hsf2bp |
C |
T |
17: 32,165,708 (GRCm39) |
V296M |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,970,132 (GRCm39) |
V203A |
probably damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,364,721 (GRCm39) |
V856A |
probably damaging |
Het |
| Nherf4 |
C |
A |
9: 44,160,323 (GRCm39) |
V294L |
possibly damaging |
Het |
| Or2ag1b |
G |
A |
7: 106,288,420 (GRCm39) |
Q173* |
probably null |
Het |
| Or2y6 |
T |
C |
11: 52,104,291 (GRCm39) |
H175R |
probably damaging |
Het |
| Or5t18 |
A |
G |
2: 86,637,146 (GRCm39) |
S66P |
probably damaging |
Het |
| Phf11 |
A |
T |
14: 59,488,627 (GRCm39) |
Y57N |
probably damaging |
Het |
| Ppfia2 |
G |
A |
10: 106,701,267 (GRCm39) |
|
probably null |
Het |
| Prss23 |
T |
A |
7: 89,160,074 (GRCm39) |
|
probably benign |
Het |
| Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
| Rcn2 |
A |
T |
9: 55,960,266 (GRCm39) |
I178F |
probably benign |
Het |
| Rtn1 |
C |
T |
12: 72,259,261 (GRCm39) |
|
probably benign |
Het |
| Sik2 |
A |
G |
9: 50,909,876 (GRCm39) |
V59A |
probably damaging |
Het |
| Slc25a42 |
A |
T |
8: 70,641,504 (GRCm39) |
M159K |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,619,737 (GRCm39) |
L21P |
probably damaging |
Het |
| Smap2 |
A |
C |
4: 120,842,508 (GRCm39) |
W41G |
probably damaging |
Het |
| Sox6 |
T |
C |
7: 115,261,557 (GRCm39) |
I220V |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,722,198 (GRCm39) |
D994G |
probably benign |
Het |
| Syt17 |
A |
G |
7: 118,033,495 (GRCm39) |
V171A |
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,956,249 (GRCm39) |
F1332S |
probably damaging |
Het |
| Trim3 |
C |
T |
7: 105,262,623 (GRCm39) |
V512I |
possibly damaging |
Het |
| Uhmk1 |
G |
A |
1: 170,032,686 (GRCm39) |
Q282* |
probably null |
Het |
| Ushbp1 |
G |
A |
8: 71,838,361 (GRCm39) |
R648W |
probably damaging |
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 |
|
R3622:Htr1d
|
UTSW |
4 |
136,170,815 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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'- ACTAAGACCCTGGGCATCATTC -3'
(R):5'- GATGCTGGCAATCAAACACAG -3'
Sequencing Primer
(F):5'- GCATCATTCTGGGGGCCTTTATC -3'
(R):5'- TAATTTAAGCCAAAGACCCAAGATAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation