Incidental Mutation 'R4404:Htr6'
| ID |
326754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Htr6
|
| Ensembl Gene |
ENSMUSG00000028747 |
| Gene Name |
5-hydroxytryptamine (serotonin) receptor 6 |
| Synonyms |
5-HT6 |
| MMRRC Submission |
041133-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R4404 (G1)
|
| Quality Score |
187 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
138788419-138802881 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138789513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 251
(S251P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101428
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043042]
[ENSMUST00000050949]
[ENSMUST00000068036]
[ENSMUST00000105802]
|
| AlphaFold |
Q9R1C8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043042
|
| SMART Domains |
Protein: ENSMUSP00000041388
Gene: ENSMUSG00000041143
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF726
|
182 |
518 |
1.1e-138 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050949
|
| SMART Domains |
Protein: ENSMUSP00000059320
Gene: ENSMUSG00000041143
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF726
|
182 |
518 |
5.3e-145 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068036
AA Change: S251P
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000068333
Gene: ENSMUSG00000028747
AA Change: S251P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
43 |
322 |
4.6e-63 |
PFAM |
|
low complexity region
|
364 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
416 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105802
AA Change: S251P
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000101428
Gene: ENSMUSG00000028747
AA Change: S251P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
43 |
322 |
1.9e-72 |
PFAM |
|
low complexity region
|
364 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
416 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the seven-transmembrane G protein-coupled receptor family of proteins. The encoded protein couples with the Gs alpha subunit and stimulates adenylate cyclase to activate the cyclic AMP-dependent signaling pathway. This receptor is thought to regulate cholinergic neuronal transmission in the brain. Several antidepressants and antipsychotic drugs have a high affinity for this receptor. [provided by RefSeq, Aug 2013]
PHENOTYPE: Male mice homozygous for some disruptions in this gene display decreased body size. Mice homozygous for a different null allele display decreased sensitivity to alcohol induced behavioral responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc188 |
A |
G |
16: 18,036,284 (GRCm39) |
Q153R |
probably damaging |
Het |
| Cimap3 |
G |
A |
3: 105,908,684 (GRCm39) |
P7L |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,404,866 (GRCm39) |
L1721* |
probably null |
Het |
| Fcsk |
T |
A |
8: 111,616,933 (GRCm39) |
T406S |
probably benign |
Het |
| Fer |
A |
T |
17: 64,248,284 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
T |
C |
10: 51,504,639 (GRCm39) |
I68M |
probably benign |
Het |
| Gria4 |
A |
T |
9: 4,464,489 (GRCm39) |
|
probably null |
Het |
| Gtf3c4 |
T |
C |
2: 28,716,761 (GRCm39) |
D813G |
probably damaging |
Het |
| Hars2 |
G |
T |
18: 36,918,989 (GRCm39) |
C83F |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,236,972 (GRCm39) |
T1070A |
probably benign |
Het |
| Il22ra1 |
A |
T |
4: 135,464,742 (GRCm39) |
E149D |
possibly damaging |
Het |
| Lama3 |
G |
A |
18: 12,715,588 (GRCm39) |
M1681I |
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,518,828 (GRCm39) |
G1878D |
probably damaging |
Het |
| Mcc |
G |
A |
18: 44,892,365 (GRCm39) |
T83M |
probably benign |
Het |
| Nol11 |
A |
T |
11: 107,064,551 (GRCm39) |
C468S |
probably damaging |
Het |
| Nomo1 |
A |
G |
7: 45,706,092 (GRCm39) |
N482S |
probably benign |
Het |
| Npy5r |
C |
T |
8: 67,134,644 (GRCm39) |
V50I |
probably benign |
Het |
| Or8g21 |
T |
C |
9: 38,905,865 (GRCm39) |
I289V |
possibly damaging |
Het |
| Pam |
T |
C |
1: 97,782,446 (GRCm39) |
|
probably benign |
Het |
| Pank4 |
C |
T |
4: 155,064,613 (GRCm39) |
T724I |
probably benign |
Het |
| Pramel34 |
T |
A |
5: 93,785,572 (GRCm39) |
H236L |
possibly damaging |
Het |
| Sertm1 |
C |
T |
3: 54,806,746 (GRCm39) |
C93Y |
probably damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,833,651 (GRCm39) |
T444A |
probably damaging |
Het |
| Trpm7 |
C |
A |
2: 126,675,635 (GRCm39) |
L489F |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Usp25 |
A |
C |
16: 76,912,341 (GRCm39) |
K1020T |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,877,511 (GRCm39) |
T511A |
probably benign |
Het |
| Zdhhc15 |
G |
A |
X: 103,604,294 (GRCm39) |
R322* |
probably null |
Het |
|
| Other mutations in Htr6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02859:Htr6
|
APN |
4 |
138,801,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03093:Htr6
|
APN |
4 |
138,789,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0179:Htr6
|
UTSW |
4 |
138,789,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0415:Htr6
|
UTSW |
4 |
138,789,392 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1551:Htr6
|
UTSW |
4 |
138,801,776 (GRCm39) |
nonsense |
probably null |
|
|
R1631:Htr6
|
UTSW |
4 |
138,788,804 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2181:Htr6
|
UTSW |
4 |
138,801,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5310:Htr6
|
UTSW |
4 |
138,788,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5604:Htr6
|
UTSW |
4 |
138,788,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5768:Htr6
|
UTSW |
4 |
138,789,015 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7833:Htr6
|
UTSW |
4 |
138,789,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8395:Htr6
|
UTSW |
4 |
138,789,078 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9139:Htr6
|
UTSW |
4 |
138,789,501 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9623:Htr6
|
UTSW |
4 |
138,801,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9661:Htr6
|
UTSW |
4 |
138,801,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTGCCCAGTGAAGCATGG -3'
(R):5'- TATTCTAGGACTTGGTCTTAGTGCC -3'
Sequencing Primer
(F):5'- AGTGAAGCATGGCATCTCTC -3'
(R):5'- GACTTGGTCTTAGTGCCTCAGC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation