Incidental Mutation 'R1649:Slc6a5'
| ID |
174099 |
| 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 |
039685-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1649 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
49559894-49613604 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 49586010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 443
(G443C)
|
| 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 |
probably damaging
Transcript: ENSMUST00000056442
AA Change: G443C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: G443C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107605
AA Change: G443C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: G443C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207753
AA Change: G443C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209172
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 88.1%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1a1 |
T |
A |
4: 116,495,217 (GRCm39) |
I261F |
probably damaging |
Het |
| Aldh1l1 |
T |
C |
6: 90,541,371 (GRCm39) |
V255A |
probably benign |
Het |
| Ambn |
T |
A |
5: 88,612,340 (GRCm39) |
M172K |
probably benign |
Het |
| Arhgef18 |
A |
G |
8: 3,439,094 (GRCm39) |
|
probably benign |
Het |
| BC034090 |
T |
C |
1: 155,101,319 (GRCm39) |
H315R |
possibly damaging |
Het |
| Btaf1 |
T |
A |
19: 36,959,122 (GRCm39) |
D707E |
probably benign |
Het |
| C6 |
T |
C |
15: 4,764,739 (GRCm39) |
L145P |
possibly damaging |
Het |
| Cav3 |
T |
A |
6: 112,449,207 (GRCm39) |
L75Q |
probably damaging |
Het |
| Cavin2 |
T |
A |
1: 51,339,939 (GRCm39) |
D205E |
probably benign |
Het |
| Cdadc1 |
T |
C |
14: 59,811,242 (GRCm39) |
T423A |
probably damaging |
Het |
| Cep120 |
A |
T |
18: 53,857,648 (GRCm39) |
H272Q |
probably damaging |
Het |
| Chd9 |
A |
T |
8: 91,659,229 (GRCm39) |
Q63L |
possibly damaging |
Het |
| Clspn |
T |
C |
4: 126,460,228 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
G |
T |
17: 25,202,217 (GRCm39) |
H422N |
probably damaging |
Het |
| Csn1s2b |
A |
T |
5: 87,966,943 (GRCm39) |
M71L |
probably benign |
Het |
| D630045J12Rik |
C |
A |
6: 38,158,366 (GRCm39) |
A1104S |
probably damaging |
Het |
| D930048N14Rik |
A |
G |
11: 51,545,663 (GRCm39) |
|
probably benign |
Het |
| Ern2 |
G |
A |
7: 121,776,623 (GRCm39) |
P366S |
probably damaging |
Het |
| Gm1527 |
T |
C |
3: 28,952,880 (GRCm39) |
I60T |
probably damaging |
Het |
| Gse1 |
T |
C |
8: 121,305,254 (GRCm39) |
|
probably benign |
Het |
| Ildr1 |
T |
C |
16: 36,528,681 (GRCm39) |
L42P |
probably damaging |
Het |
| Itih2 |
G |
A |
2: 10,110,546 (GRCm39) |
T515I |
probably benign |
Het |
| Jcad |
C |
A |
18: 4,673,309 (GRCm39) |
P357Q |
probably damaging |
Het |
| Kitl |
A |
G |
10: 99,899,976 (GRCm39) |
T94A |
probably benign |
Het |
| Klri1 |
C |
T |
6: 129,675,204 (GRCm39) |
M185I |
probably benign |
Het |
| Lsamp |
A |
T |
16: 41,775,661 (GRCm39) |
M171L |
probably benign |
Het |
| Macf1 |
T |
G |
4: 123,377,846 (GRCm39) |
I1460L |
probably damaging |
Het |
| Map1b |
C |
G |
13: 99,652,986 (GRCm39) |
V4L |
probably benign |
Het |
| Mboat7 |
A |
T |
7: 3,688,817 (GRCm39) |
V237D |
probably benign |
Het |
| Mctp2 |
A |
T |
7: 71,811,006 (GRCm39) |
I656K |
probably damaging |
Het |
| Ms4a6b |
A |
G |
19: 11,497,806 (GRCm39) |
D35G |
possibly damaging |
Het |
| Nipsnap2 |
T |
A |
5: 129,830,301 (GRCm39) |
I205N |
probably damaging |
Het |
| Nsd2 |
T |
C |
5: 34,011,984 (GRCm39) |
V264A |
probably damaging |
Het |
| Oacyl |
C |
T |
18: 65,883,167 (GRCm39) |
T582I |
probably damaging |
Het |
| Olfm1 |
A |
T |
2: 28,119,279 (GRCm39) |
T333S |
possibly damaging |
Het |
| Olfm4 |
G |
A |
14: 80,249,422 (GRCm39) |
E180K |
probably damaging |
Het |
| Or14j6 |
T |
C |
17: 38,215,060 (GRCm39) |
F208L |
probably benign |
Het |
| Or2ad1 |
A |
T |
13: 21,326,912 (GRCm39) |
L105Q |
probably damaging |
Het |
| Or8g17 |
T |
G |
9: 38,930,776 (GRCm39) |
Q20H |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,827,885 (GRCm39) |
V212E |
possibly damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,648,666 (GRCm39) |
N598K |
probably damaging |
Het |
| Piezo2 |
C |
A |
18: 63,250,743 (GRCm39) |
W452L |
probably benign |
Het |
| Plec |
C |
A |
15: 76,090,011 (GRCm39) |
A110S |
possibly damaging |
Het |
| Popdc3 |
T |
C |
10: 45,191,320 (GRCm39) |
Y144H |
probably damaging |
Het |
| Ptgdr |
T |
C |
14: 45,095,959 (GRCm39) |
H251R |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,421,015 (GRCm39) |
Y246* |
probably null |
Het |
| Pyroxd2 |
T |
C |
19: 42,726,573 (GRCm39) |
D247G |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,695,889 (GRCm39) |
E1418G |
probably benign |
Het |
| Rtp3 |
T |
C |
9: 110,815,772 (GRCm39) |
T198A |
probably benign |
Het |
| Sec16a |
A |
T |
2: 26,315,536 (GRCm39) |
V1767D |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,774,819 (GRCm39) |
N119D |
probably benign |
Het |
| Serpina5 |
A |
T |
12: 104,071,484 (GRCm39) |
T364S |
possibly damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
| Sh3bp2 |
C |
T |
5: 34,716,348 (GRCm39) |
A253V |
possibly damaging |
Het |
| Spag9 |
T |
A |
11: 93,999,278 (GRCm39) |
|
probably null |
Het |
| Sptbn1 |
T |
C |
11: 30,087,301 (GRCm39) |
E1033G |
probably damaging |
Het |
| Timm17a |
T |
G |
1: 135,237,540 (GRCm39) |
Q39P |
probably damaging |
Het |
| Tmem26 |
A |
T |
10: 68,587,103 (GRCm39) |
T184S |
probably damaging |
Het |
| Tpi1 |
A |
T |
6: 124,789,891 (GRCm39) |
|
probably null |
Het |
| Tssk5 |
T |
C |
15: 76,258,003 (GRCm39) |
Y118C |
possibly damaging |
Het |
| Ttll4 |
T |
A |
1: 74,736,629 (GRCm39) |
L1118Q |
possibly damaging |
Het |
| Ttll5 |
T |
A |
12: 85,969,788 (GRCm39) |
L691Q |
probably damaging |
Het |
| Vmn1r49 |
A |
T |
6: 90,049,623 (GRCm39) |
H126Q |
possibly damaging |
Het |
| Zfp518b |
A |
T |
5: 38,829,224 (GRCm39) |
V927E |
probably damaging |
Het |
| Zfp618 |
T |
C |
4: 63,013,774 (GRCm39) |
F213S |
probably damaging |
Het |
| Zfp759 |
T |
A |
13: 67,287,668 (GRCm39) |
N406K |
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 |
|
|
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 |
|
|
R5720:Slc6a5
|
UTSW |
7 |
49,606,264 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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'- CTGTCACCTCAGCTCAATGATGTCC -3'
(R):5'- GCACTTAGCTACCTGATCATCACCC -3'
Sequencing Primer
(F):5'- CTTAGGGATGCTGCTCACC -3'
(R):5'- GATCTCCCAGACCTGAAGATGTAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation