Incidental Mutation 'R5694:Htr7'
| ID |
443848 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Htr7
|
| Ensembl Gene |
ENSMUSG00000024798 |
| Gene Name |
5-hydroxytryptamine (serotonin) receptor 7 |
| Synonyms |
5-HT7 |
| MMRRC Submission |
043325-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5694 (G1)
|
| Quality Score |
88 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
35936134-36034907 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36034521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 45
(M45V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099505]
[ENSMUST00000164639]
[ENSMUST00000164781]
[ENSMUST00000165215]
[ENSMUST00000166074]
[ENSMUST00000170360]
|
| AlphaFold |
P32304 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099505
AA Change: M45V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097105
Gene: ENSMUSG00000024798
AA Change: M45V
| 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 benign
Transcript: ENSMUST00000164639
AA Change: M45V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126847
Gene: ENSMUSG00000024798
AA Change: M45V
| 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 benign
Transcript: ENSMUST00000164781
AA Change: M45V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000131912
Gene: ENSMUSG00000024798
AA Change: M45V
| 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 benign
Transcript: ENSMUST00000165215
AA Change: M45V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000128386
Gene: ENSMUSG00000024798
AA Change: M45V
| 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 benign
Transcript: ENSMUST00000166074
AA Change: M45V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126150
Gene: ENSMUSG00000024798
AA Change: M45V
| 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 benign
Transcript: ENSMUST00000170360
AA Change: M45V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000131517
Gene: ENSMUSG00000024798
AA Change: M45V
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
T |
6: 142,546,673 (GRCm39) |
I1353N |
probably damaging |
Het |
| Actr1a |
C |
A |
19: 46,384,157 (GRCm39) |
|
probably benign |
Het |
| Adamts14 |
A |
T |
10: 61,065,431 (GRCm39) |
M356K |
probably benign |
Het |
| Adamtsl2 |
A |
G |
2: 26,971,736 (GRCm39) |
H7R |
probably benign |
Het |
| Angptl2 |
T |
C |
2: 33,118,628 (GRCm39) |
V134A |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
| Astn2 |
T |
C |
4: 65,868,375 (GRCm39) |
D488G |
probably damaging |
Het |
| Cat |
A |
T |
2: 103,303,339 (GRCm39) |
V146E |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,027,324 (GRCm39) |
V2144A |
probably damaging |
Het |
| Efcab5 |
T |
G |
11: 77,079,701 (GRCm39) |
D15A |
probably benign |
Het |
| Epha10 |
C |
T |
4: 124,796,446 (GRCm39) |
A385V |
unknown |
Het |
| Erg |
C |
A |
16: 95,161,890 (GRCm39) |
E388D |
probably benign |
Het |
| Fbxo10 |
T |
A |
4: 45,035,970 (GRCm39) |
I931F |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,912,353 (GRCm39) |
L673P |
probably damaging |
Het |
| Gm4922 |
A |
C |
10: 18,660,035 (GRCm39) |
I229S |
possibly damaging |
Het |
| Gnptab |
T |
A |
10: 88,250,348 (GRCm39) |
D153E |
probably benign |
Het |
| Hycc1 |
C |
A |
5: 24,196,794 (GRCm39) |
L31F |
probably damaging |
Het |
| Igkv4-51 |
C |
T |
6: 69,658,911 (GRCm39) |
V5M |
probably damaging |
Het |
| Ints7 |
G |
A |
1: 191,318,730 (GRCm39) |
E156K |
probably damaging |
Het |
| Map3k21 |
A |
G |
8: 126,671,507 (GRCm39) |
T932A |
probably benign |
Het |
| Mapk1 |
T |
G |
16: 16,836,333 (GRCm39) |
D160E |
probably benign |
Het |
| Mast4 |
A |
T |
13: 102,910,701 (GRCm39) |
Y479* |
probably null |
Het |
| Meig1 |
T |
A |
2: 3,412,999 (GRCm39) |
K7N |
probably damaging |
Het |
| Mthfd1l |
T |
A |
10: 3,985,239 (GRCm39) |
D548E |
possibly damaging |
Het |
| Myo16 |
A |
G |
8: 10,619,606 (GRCm39) |
R1386G |
probably benign |
Het |
| Nphs2 |
T |
C |
1: 156,153,607 (GRCm39) |
S353P |
probably benign |
Het |
| Or12j4 |
T |
C |
7: 140,046,644 (GRCm39) |
F177L |
probably benign |
Het |
| Or8b1 |
T |
A |
9: 38,399,532 (GRCm39) |
I69K |
probably damaging |
Het |
| Pcdha9 |
G |
T |
18: 37,131,425 (GRCm39) |
V165L |
probably benign |
Het |
| Pde3a |
T |
A |
6: 141,196,228 (GRCm39) |
S305T |
possibly damaging |
Het |
| Phf14 |
C |
A |
6: 11,990,124 (GRCm39) |
L718I |
possibly damaging |
Het |
| Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
| Rab44 |
T |
A |
17: 29,364,940 (GRCm39) |
M645K |
unknown |
Het |
| Rab44 |
T |
C |
17: 29,359,474 (GRCm39) |
L554P |
probably damaging |
Het |
| Rnf222 |
A |
G |
11: 68,783,723 (GRCm39) |
T97A |
probably benign |
Het |
| Rnpepl1 |
T |
C |
1: 92,846,663 (GRCm39) |
S522P |
probably benign |
Het |
| Serinc5 |
A |
G |
13: 92,825,302 (GRCm39) |
I244V |
probably benign |
Het |
| Serpinb10 |
A |
T |
1: 107,463,187 (GRCm39) |
|
probably null |
Het |
| Siglech |
T |
A |
7: 55,418,404 (GRCm39) |
F124Y |
probably damaging |
Het |
| Smarcc2 |
A |
T |
10: 128,319,996 (GRCm39) |
I790L |
probably benign |
Het |
| Sos2 |
C |
A |
12: 69,637,689 (GRCm39) |
R1007S |
probably damaging |
Het |
| Stk4 |
C |
T |
2: 163,942,484 (GRCm39) |
T372M |
possibly damaging |
Het |
| Tbc1d10c |
A |
T |
19: 4,234,963 (GRCm39) |
L366H |
probably damaging |
Het |
| Tor4a |
T |
C |
2: 25,084,932 (GRCm39) |
T324A |
probably benign |
Het |
| Trim12a |
C |
A |
7: 103,956,450 (GRCm39) |
C30F |
probably damaging |
Het |
| Ttll3 |
G |
A |
6: 113,376,669 (GRCm39) |
V350M |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,218,737 (GRCm39) |
D63E |
probably damaging |
Het |
| Unc5b |
G |
A |
10: 60,609,526 (GRCm39) |
T590I |
probably benign |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Wls |
A |
C |
3: 159,545,624 (GRCm39) |
I16L |
probably benign |
Het |
| Zfp101 |
T |
C |
17: 33,599,919 (GRCm39) |
I612M |
probably benign |
Het |
| Zfp677 |
C |
A |
17: 21,618,021 (GRCm39) |
D359E |
probably damaging |
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 |
|
R6273:Htr7
|
UTSW |
19 |
36,018,969 (GRCm39) |
intron |
probably benign |
|
|
R6502:Htr7
|
UTSW |
19 |
35,947,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6558:Htr7
|
UTSW |
19 |
36,034,640 (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'- GATCACCACCAGGCAGTTGC -3'
(R):5'- CAAGGTGAATCCAGCCCTG -3'
Sequencing Primer
(F):5'- AGTTGCCCGCGATCGTCAG -3'
(R):5'- ATGGACGTTAACAGCAGC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation