Incidental Mutation 'R4334:Htr3b'
ID |
323699 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Htr3b
|
Ensembl Gene |
ENSMUSG00000008590 |
Gene Name |
5-hydroxytryptamine (serotonin) receptor 3B |
Synonyms |
5-HT3B, 5-HT3 receptor subunit B |
MMRRC Submission |
041664-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4334 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
48846308-48876290 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 48856809 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 223
(A223V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000008734
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008734]
|
AlphaFold |
Q9JHJ5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000008734
AA Change: A223V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000008734 Gene: ENSMUSG00000008590 AA Change: A223V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Pfam:Neur_chan_LBD
|
28 |
235 |
1.5e-48 |
PFAM |
Pfam:Neur_chan_memb
|
242 |
336 |
2.2e-15 |
PFAM |
transmembrane domain
|
412 |
434 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit B of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It is not functional as a homomeric complex, but a pentaheteromeric complex with subunit A (HTR3A) displays the full functional features of this receptor. [provided by RefSeq, Aug 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
T |
17: 24,537,242 (GRCm39) |
V447E |
probably damaging |
Het |
Adcyap1 |
T |
C |
17: 93,509,696 (GRCm39) |
L49P |
probably benign |
Het |
B4galt4 |
T |
C |
16: 38,572,621 (GRCm39) |
I102T |
probably damaging |
Het |
Cc2d2a |
A |
G |
5: 43,840,476 (GRCm39) |
D110G |
probably benign |
Het |
Ccdc141 |
C |
T |
2: 77,000,776 (GRCm39) |
V19I |
probably damaging |
Het |
Ccdc39 |
A |
G |
3: 33,892,031 (GRCm39) |
L147P |
probably damaging |
Het |
Cdc5l |
A |
T |
17: 45,721,712 (GRCm39) |
D519E |
probably benign |
Het |
Cdh23 |
G |
T |
10: 60,220,838 (GRCm39) |
T1305K |
probably damaging |
Het |
Cfi |
T |
A |
3: 129,644,478 (GRCm39) |
V158D |
possibly damaging |
Het |
Clstn2 |
T |
G |
9: 97,345,581 (GRCm39) |
Y589S |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,380,640 (GRCm39) |
K1863E |
possibly damaging |
Het |
Enpp3 |
A |
T |
10: 24,669,487 (GRCm39) |
M491K |
probably damaging |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Fkbp15 |
G |
A |
4: 62,221,456 (GRCm39) |
A1170V |
possibly damaging |
Het |
Foxa2 |
T |
C |
2: 147,886,623 (GRCm39) |
N64S |
possibly damaging |
Het |
Foxm1 |
T |
C |
6: 128,342,930 (GRCm39) |
I88T |
probably damaging |
Het |
Gm3173 |
A |
T |
14: 15,728,364 (GRCm39) |
I8L |
possibly damaging |
Het |
Gpatch3 |
A |
G |
4: 133,309,792 (GRCm39) |
D375G |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,876,402 (GRCm39) |
F4436L |
probably damaging |
Het |
Iars2 |
T |
A |
1: 185,035,591 (GRCm39) |
T550S |
probably benign |
Het |
Igsf9 |
A |
T |
1: 172,321,779 (GRCm39) |
K149* |
probably null |
Het |
Khnyn |
A |
G |
14: 56,131,499 (GRCm39) |
D536G |
probably damaging |
Het |
Kng1 |
T |
C |
16: 22,898,370 (GRCm39) |
V409A |
possibly damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
Madd |
C |
T |
2: 90,970,917 (GRCm39) |
V1508I |
probably benign |
Het |
Micall2 |
T |
C |
5: 139,699,105 (GRCm39) |
E527G |
probably damaging |
Het |
Myo7b |
A |
G |
18: 32,110,040 (GRCm39) |
S1141P |
probably damaging |
Het |
Ncoa2 |
G |
A |
1: 13,245,187 (GRCm39) |
P504S |
possibly damaging |
Het |
Notch1 |
G |
A |
2: 26,350,048 (GRCm39) |
T2364I |
probably benign |
Het |
Pde4c |
T |
A |
8: 71,202,475 (GRCm39) |
|
probably null |
Het |
Pik3cb |
A |
G |
9: 98,943,904 (GRCm39) |
L633P |
probably damaging |
Het |
Ranbp2 |
T |
A |
10: 58,299,816 (GRCm39) |
D483E |
probably damaging |
Het |
Sh3tc2 |
A |
G |
18: 62,123,392 (GRCm39) |
N718D |
probably damaging |
Het |
Spast |
G |
A |
17: 74,659,010 (GRCm39) |
A126T |
probably damaging |
Het |
Ssc5d |
T |
C |
7: 4,946,663 (GRCm39) |
S1006P |
probably benign |
Het |
Tmprss6 |
T |
A |
15: 78,343,627 (GRCm39) |
|
probably null |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Unc79 |
C |
T |
12: 103,045,233 (GRCm39) |
T803M |
probably benign |
Het |
Vmn2r118 |
A |
T |
17: 55,917,347 (GRCm39) |
F388L |
possibly damaging |
Het |
Vmn2r71 |
T |
C |
7: 85,269,042 (GRCm39) |
V415A |
probably benign |
Het |
Wdr4 |
A |
T |
17: 31,718,126 (GRCm39) |
F316Y |
possibly damaging |
Het |
Zfp810 |
T |
C |
9: 22,190,080 (GRCm39) |
Y276C |
probably benign |
Het |
|
Other mutations in Htr3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01401:Htr3b
|
APN |
9 |
48,858,934 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02576:Htr3b
|
APN |
9 |
48,856,804 (GRCm39) |
missense |
possibly damaging |
0.67 |
space
|
UTSW |
9 |
48,848,456 (GRCm39) |
missense |
probably damaging |
1.00 |
stove
|
UTSW |
9 |
48,847,343 (GRCm39) |
splice site |
probably null |
|
thermador
|
UTSW |
9 |
48,870,518 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0594:Htr3b
|
UTSW |
9 |
48,858,931 (GRCm39) |
missense |
probably benign |
0.09 |
R1158:Htr3b
|
UTSW |
9 |
48,847,390 (GRCm39) |
missense |
possibly damaging |
0.55 |
R1690:Htr3b
|
UTSW |
9 |
48,848,394 (GRCm39) |
missense |
possibly damaging |
0.51 |
R2184:Htr3b
|
UTSW |
9 |
48,858,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R3441:Htr3b
|
UTSW |
9 |
48,856,815 (GRCm39) |
missense |
probably benign |
0.01 |
R3442:Htr3b
|
UTSW |
9 |
48,856,815 (GRCm39) |
missense |
probably benign |
0.01 |
R4906:Htr3b
|
UTSW |
9 |
48,848,348 (GRCm39) |
critical splice donor site |
probably null |
|
R4985:Htr3b
|
UTSW |
9 |
48,847,241 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4992:Htr3b
|
UTSW |
9 |
48,870,518 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5197:Htr3b
|
UTSW |
9 |
48,856,815 (GRCm39) |
missense |
probably benign |
0.01 |
R5238:Htr3b
|
UTSW |
9 |
48,848,542 (GRCm39) |
nonsense |
probably null |
|
R6086:Htr3b
|
UTSW |
9 |
48,858,598 (GRCm39) |
missense |
probably benign |
0.16 |
R6328:Htr3b
|
UTSW |
9 |
48,858,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R6412:Htr3b
|
UTSW |
9 |
48,857,819 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7140:Htr3b
|
UTSW |
9 |
48,848,441 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7349:Htr3b
|
UTSW |
9 |
48,847,319 (GRCm39) |
missense |
probably benign |
0.05 |
R7596:Htr3b
|
UTSW |
9 |
48,847,361 (GRCm39) |
missense |
probably benign |
0.31 |
R7815:Htr3b
|
UTSW |
9 |
48,856,833 (GRCm39) |
missense |
probably benign |
0.02 |
R7920:Htr3b
|
UTSW |
9 |
48,848,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R7960:Htr3b
|
UTSW |
9 |
48,856,852 (GRCm39) |
missense |
probably benign |
0.08 |
R8103:Htr3b
|
UTSW |
9 |
48,857,849 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8210:Htr3b
|
UTSW |
9 |
48,847,343 (GRCm39) |
splice site |
probably null |
|
R8318:Htr3b
|
UTSW |
9 |
48,876,177 (GRCm39) |
start gained |
probably benign |
|
R8359:Htr3b
|
UTSW |
9 |
48,858,596 (GRCm39) |
missense |
probably damaging |
0.99 |
R8507:Htr3b
|
UTSW |
9 |
48,876,177 (GRCm39) |
start gained |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGAGCTCAGATACTGGTGC -3'
(R):5'- TAATACCAGGGGTGTGGGTC -3'
Sequencing Primer
(F):5'- CTGGTGCACAGGTGAATGG -3'
(R):5'- CCATGTCTCTTCCAGGGTG -3'
|
Posted On |
2015-06-24 |