Incidental Mutation 'R9557:Slc6a5'
| ID |
720800 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9557 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
49559894-49613604 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49561474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 2
(N2S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056442]
[ENSMUST00000107605]
[ENSMUST00000207753]
[ENSMUST00000209172]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056442
AA Change: N2S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: N2S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107605
AA Change: N2S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: N2S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207753
AA Change: N2S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209172
AA Change: N2S
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
| 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 |
|---|
| Aadacl2fm2 |
T |
A |
3: 59,659,160 (GRCm39) |
N204K |
possibly damaging |
Het |
| Aadacl2fm3 |
T |
G |
3: 59,784,654 (GRCm39) |
F376V |
possibly damaging |
Het |
| Abca5 |
A |
G |
11: 110,197,109 (GRCm39) |
L523P |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 35,091,327 (GRCm39) |
V590A |
probably damaging |
Het |
| Alg1 |
A |
T |
16: 5,057,820 (GRCm39) |
D238V |
probably damaging |
Het |
| Ankrd55 |
C |
A |
13: 112,485,347 (GRCm39) |
P187H |
probably damaging |
Het |
| Aox4 |
G |
T |
1: 58,285,095 (GRCm39) |
V616F |
probably benign |
Het |
| Apc |
C |
A |
18: 34,451,412 (GRCm39) |
H2769Q |
probably damaging |
Het |
| Bach1 |
C |
G |
16: 87,516,603 (GRCm39) |
S381R |
probably benign |
Het |
| C2cd2l |
G |
A |
9: 44,231,127 (GRCm39) |
A20V |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,904,223 (GRCm39) |
D266G |
probably damaging |
Het |
| Ces4a |
A |
G |
8: 105,869,527 (GRCm39) |
S233G |
possibly damaging |
Het |
| Comp |
T |
A |
8: 70,829,854 (GRCm39) |
D359E |
probably benign |
Het |
| Cyp2b13 |
A |
C |
7: 25,780,123 (GRCm39) |
N91T |
probably benign |
Het |
| Dhx9 |
A |
C |
1: 153,333,292 (GRCm39) |
M1151R |
probably benign |
Het |
| Dync2i2 |
G |
A |
2: 29,922,534 (GRCm39) |
A366V |
possibly damaging |
Het |
| E2f5 |
G |
T |
3: 14,653,311 (GRCm39) |
L142F |
probably benign |
Het |
| Egflam |
G |
T |
15: 7,241,656 (GRCm39) |
N917K |
probably damaging |
Het |
| Ercc6l2 |
C |
T |
13: 63,989,936 (GRCm39) |
R254C |
probably damaging |
Het |
| Erh |
G |
A |
12: 80,689,571 (GRCm39) |
P18S |
probably benign |
Het |
| Fam110b |
T |
C |
4: 5,799,064 (GRCm39) |
S161P |
probably damaging |
Het |
| Fam210a |
TAAAATGTTCCAAA |
TAAA |
18: 68,408,848 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
T |
C |
2: 125,180,458 (GRCm39) |
I1775V |
probably damaging |
Het |
| Fry |
C |
A |
5: 150,389,781 (GRCm39) |
Q137K |
|
Het |
| Gm4787 |
A |
T |
12: 81,426,074 (GRCm39) |
L28* |
probably null |
Het |
| Gpr179 |
A |
G |
11: 97,235,029 (GRCm39) |
F434L |
probably damaging |
Het |
| Grik2 |
T |
C |
10: 49,404,105 (GRCm39) |
Y252C |
probably damaging |
Het |
| H1f0 |
C |
T |
15: 78,912,947 (GRCm39) |
P9L |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,459,617 (GRCm39) |
T829A |
possibly damaging |
Het |
| Ing4 |
A |
G |
6: 125,025,354 (GRCm39) |
E245G |
probably benign |
Het |
| Lgr4 |
C |
T |
2: 109,827,084 (GRCm39) |
A196V |
probably damaging |
Het |
| Lrrc51 |
T |
A |
7: 101,562,329 (GRCm39) |
K176N |
probably benign |
Het |
| Lrrc9 |
T |
A |
12: 72,532,981 (GRCm39) |
M950K |
probably benign |
Het |
| Lrrd1 |
A |
T |
5: 3,901,432 (GRCm39) |
D579V |
probably damaging |
Het |
| Magi3 |
C |
T |
3: 103,922,473 (GRCm39) |
A1415T |
probably benign |
Het |
| Magi3 |
A |
C |
3: 103,924,933 (GRCm39) |
I1072S |
probably damaging |
Het |
| Mast1 |
G |
A |
8: 85,657,474 (GRCm39) |
T101I |
probably damaging |
Het |
| Mccc1 |
A |
T |
3: 36,049,976 (GRCm39) |
V72E |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Megf8 |
A |
T |
7: 25,058,511 (GRCm39) |
Q2169L |
possibly damaging |
Het |
| Mllt6 |
A |
G |
11: 97,564,310 (GRCm39) |
D342G |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,372,697 (GRCm39) |
T4050S |
probably benign |
Het |
| Nbeal1 |
A |
G |
1: 60,274,509 (GRCm39) |
T307A |
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,771,552 (GRCm39) |
T228A |
probably benign |
Het |
| Or52d3 |
T |
C |
7: 104,229,768 (GRCm39) |
I305T |
probably damaging |
Het |
| Plat |
T |
C |
8: 23,262,669 (GRCm39) |
F125L |
probably benign |
Het |
| Ppm1b |
T |
A |
17: 85,301,501 (GRCm39) |
M127K |
probably benign |
Het |
| Ppp4r1 |
C |
A |
17: 66,110,258 (GRCm39) |
D52E |
probably benign |
Het |
| Rasgrp3 |
T |
G |
17: 75,807,139 (GRCm39) |
I201S |
probably damaging |
Het |
| Rfpl4b |
T |
A |
10: 38,696,870 (GRCm39) |
M244L |
probably benign |
Het |
| Rhbdl3 |
A |
T |
11: 80,244,277 (GRCm39) |
H328L |
probably benign |
Het |
| Rsad2 |
T |
A |
12: 26,495,521 (GRCm39) |
I325F |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 143,963,847 (GRCm39) |
V485A |
probably benign |
Het |
| Sox4 |
G |
T |
13: 29,136,913 (GRCm39) |
A31E |
probably damaging |
Het |
| Suv39h2 |
A |
T |
2: 3,475,451 (GRCm39) |
C2S |
|
Het |
| Tet2 |
A |
G |
3: 133,191,566 (GRCm39) |
I956T |
probably benign |
Het |
| Topaz1 |
A |
G |
9: 122,578,530 (GRCm39) |
D480G |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ugt1a6b |
G |
T |
1: 88,034,820 (GRCm39) |
G53* |
probably null |
Het |
| Vmn1r173 |
T |
C |
7: 23,402,209 (GRCm39) |
V148A |
probably damaging |
Het |
| Vnn1 |
G |
A |
10: 23,776,723 (GRCm39) |
C358Y |
probably damaging |
Het |
| Wdr89 |
A |
G |
12: 75,679,666 (GRCm39) |
V196A |
probably damaging |
Het |
| Wfdc6a |
T |
A |
2: 164,425,758 (GRCm39) |
D71V |
possibly damaging |
Het |
| Zc3h3 |
T |
C |
15: 75,711,145 (GRCm39) |
K439E |
probably damaging |
Het |
| Zfp367 |
T |
C |
13: 64,300,586 (GRCm39) |
H73R |
probably damaging |
Het |
| Zfp955a |
G |
A |
17: 33,461,107 (GRCm39) |
R342* |
probably null |
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 |
|
|
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 |
|
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'- AAACACCGGTTCCGTTTGC -3'
(R):5'- GCTGCTGAGATTACAAAACCC -3'
Sequencing Primer
(F):5'- GGTTCCGTTTGCTACCCTG -3'
(R):5'- AACCCTACTCCGGACTGCTG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation