Incidental Mutation 'R5720:Slc6a5'
ID |
451407 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc6a5
|
Ensembl Gene |
ENSMUSG00000039728 |
Gene Name |
solute carrier family 6 (neurotransmitter transporter, glycine), member 5 |
Synonyms |
Glyt2 |
MMRRC Submission |
043188-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5720 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
49559894-49613604 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 49606264 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 724
(P724L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146917
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056442]
[ENSMUST00000107605]
[ENSMUST00000207753]
[ENSMUST00000209172]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056442
AA Change: P724L
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000058699 Gene: ENSMUSG00000039728 AA Change: P724L
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107605
AA Change: P724L
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103230 Gene: ENSMUSG00000039728 AA Change: P724L
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207753
AA Change: P724L
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209172
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] PHENOTYPE: Homozygous mutant mice appear normal at birth but develop a complex neuromotor phenotype involving tremors, rigidity, and an impaired righting ability. Mutant mice die approximately 2 weeks after birth. [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 |
Arhgef10l |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
4: 140,308,930 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,228,802 (GRCm39) |
T1125A |
possibly damaging |
Het |
Cplane1 |
T |
A |
15: 8,233,171 (GRCm39) |
N1165K |
probably benign |
Het |
Ctf1 |
A |
T |
7: 127,316,174 (GRCm39) |
|
probably null |
Het |
Defb26 |
T |
C |
2: 152,350,122 (GRCm39) |
N53D |
possibly damaging |
Het |
Dhtkd1 |
T |
C |
2: 5,907,825 (GRCm39) |
T787A |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fbxl7 |
A |
G |
15: 26,552,979 (GRCm39) |
L96P |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gpr65 |
A |
T |
12: 98,241,361 (GRCm39) |
S5C |
probably damaging |
Het |
Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
Itga8 |
G |
A |
2: 12,115,898 (GRCm39) |
S76L |
probably damaging |
Het |
Mpdz |
A |
T |
4: 81,205,931 (GRCm39) |
F1810Y |
probably damaging |
Het |
Nfrkb |
T |
C |
9: 31,306,038 (GRCm39) |
L126P |
probably damaging |
Het |
Or4a77 |
T |
C |
2: 89,487,299 (GRCm39) |
Y162C |
probably benign |
Het |
Primpol |
A |
G |
8: 47,034,677 (GRCm39) |
V417A |
probably damaging |
Het |
Pus1 |
C |
T |
5: 110,925,584 (GRCm39) |
E79K |
probably damaging |
Het |
Rspo2 |
C |
T |
15: 43,033,210 (GRCm39) |
C4Y |
probably benign |
Het |
Serpina12 |
T |
C |
12: 104,004,563 (GRCm39) |
D23G |
probably benign |
Het |
Serpind1 |
A |
T |
16: 17,157,696 (GRCm39) |
R297S |
probably benign |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Slc17a6 |
C |
T |
7: 51,275,145 (GRCm39) |
P68L |
probably damaging |
Het |
Spaca7 |
A |
G |
8: 12,649,004 (GRCm39) |
E166G |
possibly damaging |
Het |
Supt5 |
A |
G |
7: 28,021,993 (GRCm39) |
S345P |
probably damaging |
Het |
Syne2 |
G |
A |
12: 76,014,441 (GRCm39) |
D3211N |
probably benign |
Het |
Tmem132e |
G |
A |
11: 82,333,276 (GRCm39) |
|
probably null |
Het |
Trappc14 |
A |
G |
5: 138,261,964 (GRCm39) |
V44A |
probably benign |
Het |
Zfp384 |
T |
C |
6: 125,013,587 (GRCm39) |
S536P |
probably benign |
Het |
|
Other mutations in Slc6a5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01373:Slc6a5
|
APN |
7 |
49,567,481 (GRCm39) |
missense |
probably benign |
0.35 |
IGL01821:Slc6a5
|
APN |
7 |
49,564,601 (GRCm39) |
intron |
probably benign |
|
R0084:Slc6a5
|
UTSW |
7 |
49,579,761 (GRCm39) |
missense |
probably benign |
0.01 |
R0266:Slc6a5
|
UTSW |
7 |
49,588,156 (GRCm39) |
splice site |
probably benign |
|
R0411:Slc6a5
|
UTSW |
7 |
49,561,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R0621:Slc6a5
|
UTSW |
7 |
49,567,113 (GRCm39) |
splice site |
probably null |
|
R1649:Slc6a5
|
UTSW |
7 |
49,586,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R1822:Slc6a5
|
UTSW |
7 |
49,606,173 (GRCm39) |
missense |
probably benign |
0.00 |
R1889:Slc6a5
|
UTSW |
7 |
49,601,182 (GRCm39) |
missense |
probably benign |
0.03 |
R2084:Slc6a5
|
UTSW |
7 |
49,598,002 (GRCm39) |
missense |
probably benign |
0.14 |
R2098:Slc6a5
|
UTSW |
7 |
49,595,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R2365:Slc6a5
|
UTSW |
7 |
49,596,284 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2516:Slc6a5
|
UTSW |
7 |
49,606,210 (GRCm39) |
missense |
probably benign |
0.00 |
R3622:Slc6a5
|
UTSW |
7 |
49,567,371 (GRCm39) |
missense |
probably benign |
0.16 |
R3752:Slc6a5
|
UTSW |
7 |
49,586,062 (GRCm39) |
critical splice donor site |
probably null |
|
R3848:Slc6a5
|
UTSW |
7 |
49,577,306 (GRCm39) |
splice site |
probably benign |
|
R3917:Slc6a5
|
UTSW |
7 |
49,561,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R4617:Slc6a5
|
UTSW |
7 |
49,561,768 (GRCm39) |
missense |
probably benign |
0.00 |
R4663:Slc6a5
|
UTSW |
7 |
49,588,146 (GRCm39) |
nonsense |
probably null |
|
R4757:Slc6a5
|
UTSW |
7 |
49,609,030 (GRCm39) |
missense |
probably benign |
0.15 |
R4916:Slc6a5
|
UTSW |
7 |
49,598,004 (GRCm39) |
missense |
probably benign |
0.00 |
R5183:Slc6a5
|
UTSW |
7 |
49,585,957 (GRCm39) |
missense |
probably damaging |
0.97 |
R5257:Slc6a5
|
UTSW |
7 |
49,579,740 (GRCm39) |
missense |
probably damaging |
0.98 |
R5512:Slc6a5
|
UTSW |
7 |
49,591,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R5537:Slc6a5
|
UTSW |
7 |
49,609,059 (GRCm39) |
missense |
probably benign |
0.03 |
R5558:Slc6a5
|
UTSW |
7 |
49,577,321 (GRCm39) |
missense |
probably benign |
|
R5627:Slc6a5
|
UTSW |
7 |
49,561,522 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5655:Slc6a5
|
UTSW |
7 |
49,606,218 (GRCm39) |
missense |
probably benign |
|
R5736:Slc6a5
|
UTSW |
7 |
49,609,102 (GRCm39) |
missense |
probably benign |
0.03 |
R5817:Slc6a5
|
UTSW |
7 |
49,606,239 (GRCm39) |
missense |
probably benign |
0.00 |
R5879:Slc6a5
|
UTSW |
7 |
49,595,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R6033:Slc6a5
|
UTSW |
7 |
49,609,099 (GRCm39) |
missense |
probably benign |
0.01 |
R6033:Slc6a5
|
UTSW |
7 |
49,609,099 (GRCm39) |
missense |
probably benign |
0.01 |
R6072:Slc6a5
|
UTSW |
7 |
49,561,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R6157:Slc6a5
|
UTSW |
7 |
49,601,250 (GRCm39) |
missense |
probably benign |
0.03 |
R6172:Slc6a5
|
UTSW |
7 |
49,598,081 (GRCm39) |
nonsense |
probably null |
|
R6414:Slc6a5
|
UTSW |
7 |
49,559,991 (GRCm39) |
unclassified |
probably benign |
|
R7348:Slc6a5
|
UTSW |
7 |
49,559,915 (GRCm39) |
unclassified |
probably benign |
|
R7381:Slc6a5
|
UTSW |
7 |
49,579,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R7486:Slc6a5
|
UTSW |
7 |
49,567,078 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7624:Slc6a5
|
UTSW |
7 |
49,591,614 (GRCm39) |
missense |
probably benign |
0.00 |
R7735:Slc6a5
|
UTSW |
7 |
49,598,090 (GRCm39) |
critical splice donor site |
probably null |
|
R7760:Slc6a5
|
UTSW |
7 |
49,596,365 (GRCm39) |
missense |
probably benign |
0.03 |
R8174:Slc6a5
|
UTSW |
7 |
49,598,057 (GRCm39) |
missense |
probably benign |
0.39 |
R8219:Slc6a5
|
UTSW |
7 |
49,561,911 (GRCm39) |
missense |
probably benign |
|
R8496:Slc6a5
|
UTSW |
7 |
49,585,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R8786:Slc6a5
|
UTSW |
7 |
49,561,843 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9300:Slc6a5
|
UTSW |
7 |
49,601,175 (GRCm39) |
missense |
probably damaging |
0.97 |
R9400:Slc6a5
|
UTSW |
7 |
49,595,267 (GRCm39) |
missense |
probably benign |
0.44 |
R9401:Slc6a5
|
UTSW |
7 |
49,601,185 (GRCm39) |
missense |
probably damaging |
0.98 |
R9557:Slc6a5
|
UTSW |
7 |
49,561,474 (GRCm39) |
missense |
probably benign |
0.00 |
R9646:Slc6a5
|
UTSW |
7 |
49,567,496 (GRCm39) |
nonsense |
probably null |
|
Z1088:Slc6a5
|
UTSW |
7 |
49,561,605 (GRCm39) |
missense |
probably benign |
0.40 |
|
Predicted Primers |
PCR Primer
(F):5'- CCGTACGTGCGTGTTGAATG -3'
(R):5'- GCCTGATGATTGACTGGTCTC -3'
Sequencing Primer
(F):5'- CGTGTTGAATGAGTGAGTGAC -3'
(R):5'- TGGCAACTGGGATGACTTACTCAC -3'
|
Posted On |
2017-01-03 |