Incidental Mutation 'R6558:Htr7'
| ID |
522282 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Htr7
|
| Ensembl Gene |
ENSMUSG00000024798 |
| Gene Name |
5-hydroxytryptamine (serotonin) receptor 7 |
| Synonyms |
5-HT7 |
| MMRRC Submission |
044682-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6558 (G1)
|
| Quality Score |
86.0507 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
35936134-36034907 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36034640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 5
(N5S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099505]
[ENSMUST00000164639]
[ENSMUST00000164781]
[ENSMUST00000165215]
[ENSMUST00000166074]
[ENSMUST00000170360]
|
| AlphaFold |
P32304 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099505
AA Change: N5S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000097105
Gene: ENSMUSG00000024798
AA Change: N5S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
95 |
402 |
2.3e-9 |
PFAM |
|
Pfam:7tm_1
|
101 |
387 |
4.8e-75 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164639
AA Change: N5S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126847
Gene: ENSMUSG00000024798
AA Change: N5S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
95 |
402 |
1.3e-9 |
PFAM |
|
Pfam:7tm_1
|
101 |
387 |
1.7e-82 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164781
AA Change: N5S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131912
Gene: ENSMUSG00000024798
AA Change: N5S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
99 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
101 |
185 |
2.8e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165215
AA Change: N5S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128386
Gene: ENSMUSG00000024798
AA Change: N5S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
99 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
101 |
183 |
7.1e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166074
AA Change: N5S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126150
Gene: ENSMUSG00000024798
AA Change: N5S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
95 |
402 |
2.7e-9 |
PFAM |
|
Pfam:7tm_1
|
101 |
387 |
5.6e-82 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170360
AA Change: N5S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131517
Gene: ENSMUSG00000024798
AA Change: N5S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
95 |
247 |
9.6e-9 |
PFAM |
|
Pfam:7tm_1
|
101 |
252 |
1.4e-49 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (31/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The neurotransmitter, serotonin, is thought to play a role in various cognitive and behavioral functions. The serotonin receptor encoded by this gene belongs to the superfamily of G protein-coupled receptors and the gene is a candidate locus for involvement in autistic disorder and other neuropsychiatric disorders. Three splice variants have been identified which encode proteins that differ in the length of their carboxy terminal ends. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display lower electrically- and chemically-induced seizure thresholds. Mice homozygous for a different knock-out allele show enhanced coordination and higher thermal nociceptive thresholds. Other nullizygous mutantsfail to exhibit agonist-induced hypothermia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
C |
10: 20,839,572 (GRCm39) |
V161A |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,960,798 (GRCm39) |
|
probably null |
Het |
| Cftr |
T |
C |
6: 18,222,527 (GRCm39) |
I261T |
probably damaging |
Het |
| Chml |
A |
T |
1: 175,514,748 (GRCm39) |
M391K |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,276,971 (GRCm39) |
L659P |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Cxcl2 |
T |
C |
5: 91,052,224 (GRCm39) |
L71P |
probably damaging |
Het |
| Cxcl5 |
A |
G |
5: 90,907,677 (GRCm39) |
E83G |
probably damaging |
Het |
| Dpt |
A |
G |
1: 164,624,380 (GRCm39) |
Y27C |
unknown |
Het |
| Drc3 |
A |
T |
11: 60,255,718 (GRCm39) |
I102F |
probably damaging |
Het |
| Fam83h |
T |
C |
15: 75,876,302 (GRCm39) |
D345G |
probably damaging |
Het |
| Gm14412 |
G |
T |
2: 177,006,347 (GRCm39) |
T516K |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,290,288 (GRCm39) |
N7D |
probably benign |
Het |
| Hoxc11 |
T |
C |
15: 102,863,301 (GRCm39) |
L114P |
probably damaging |
Het |
| Ifi208 |
C |
T |
1: 173,510,589 (GRCm39) |
T248I |
probably damaging |
Het |
| Lrrc71 |
G |
A |
3: 87,649,950 (GRCm39) |
T326M |
probably benign |
Het |
| Map7d1 |
G |
A |
4: 126,126,702 (GRCm39) |
A798V |
unknown |
Het |
| Mfsd13a |
T |
A |
19: 46,354,917 (GRCm39) |
N31K |
probably damaging |
Het |
| Myadm |
T |
A |
7: 3,345,577 (GRCm39) |
I113N |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,741,678 (GRCm39) |
E1509G |
probably damaging |
Het |
| Nalcn |
C |
G |
14: 123,723,919 (GRCm39) |
R382P |
probably benign |
Het |
| Ogfr |
C |
T |
2: 180,237,197 (GRCm39) |
P594L |
possibly damaging |
Het |
| Or2r11 |
T |
A |
6: 42,437,711 (GRCm39) |
M81L |
probably benign |
Het |
| Or5p80 |
T |
A |
7: 108,229,395 (GRCm39) |
H65Q |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,839,052 (GRCm39) |
M877I |
probably benign |
Het |
| Sec23a |
A |
T |
12: 59,051,338 (GRCm39) |
S102T |
probably benign |
Het |
| Stoml1 |
T |
A |
9: 58,163,951 (GRCm39) |
V90E |
probably damaging |
Het |
| Stra8 |
G |
A |
6: 34,909,975 (GRCm39) |
W111* |
probably null |
Het |
| Timeless |
T |
A |
10: 128,085,432 (GRCm39) |
V850D |
probably benign |
Het |
| Unc5c |
A |
T |
3: 141,495,490 (GRCm39) |
D453V |
probably damaging |
Het |
| Xdh |
T |
G |
17: 74,200,708 (GRCm39) |
T1138P |
possibly damaging |
Het |
| Zkscan6 |
A |
T |
11: 65,719,051 (GRCm39) |
H357L |
probably benign |
Het |
|
| Other mutations in Htr7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02683:Htr7
|
APN |
19 |
35,937,762 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0009:Htr7
|
UTSW |
19 |
36,018,940 (GRCm39) |
intron |
probably benign |
|
|
R0318:Htr7
|
UTSW |
19 |
35,946,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1695:Htr7
|
UTSW |
19 |
35,947,136 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2316:Htr7
|
UTSW |
19 |
35,946,703 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3973:Htr7
|
UTSW |
19 |
36,034,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5041:Htr7
|
UTSW |
19 |
36,034,467 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5203:Htr7
|
UTSW |
19 |
35,941,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5236:Htr7
|
UTSW |
19 |
36,034,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5538:Htr7
|
UTSW |
19 |
35,947,235 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5682:Htr7
|
UTSW |
19 |
35,947,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5683:Htr7
|
UTSW |
19 |
35,947,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5684:Htr7
|
UTSW |
19 |
35,947,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5686:Htr7
|
UTSW |
19 |
35,947,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5694:Htr7
|
UTSW |
19 |
36,034,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6273:Htr7
|
UTSW |
19 |
36,018,969 (GRCm39) |
intron |
probably benign |
|
|
R6502:Htr7
|
UTSW |
19 |
35,947,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6884:Htr7
|
UTSW |
19 |
35,941,779 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7074:Htr7
|
UTSW |
19 |
36,034,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7592:Htr7
|
UTSW |
19 |
36,034,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9067:Htr7
|
UTSW |
19 |
36,034,490 (GRCm39) |
missense |
probably benign |
|
|
R9338:Htr7
|
UTSW |
19 |
35,941,780 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9783:Htr7
|
UTSW |
19 |
35,946,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Htr7
|
UTSW |
19 |
36,034,155 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Z1176:Htr7
|
UTSW |
19 |
35,946,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGTTGATCTGCTCCCCGC -3'
(R):5'- TTTGCTACAGTGCTGAGGC -3'
Sequencing Primer
(F):5'- GCAGCCGGAGACATTGTC -3'
(R):5'- CGCACTCCGCAACTTCG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation