Incidental Mutation 'R4663:Slc6a5'
| ID |
500766 |
| 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 |
041921-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4663 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
49559894-49613604 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 49588146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 493
(Y493*)
|
| 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 null
Transcript: ENSMUST00000056442
AA Change: Y493*
|
| SMART Domains |
Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: Y493*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107605
AA Change: Y493*
|
| SMART Domains |
Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: Y493*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207753
AA Change: Y493*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209172
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqr |
A |
T |
2: 113,992,147 (GRCm39) |
Y76* |
probably null |
Het |
| Armc5 |
C |
A |
7: 127,837,717 (GRCm39) |
A140E |
probably benign |
Het |
| Auts2 |
T |
C |
5: 131,468,476 (GRCm39) |
H947R |
probably damaging |
Het |
| Bag2 |
T |
C |
1: 33,786,074 (GRCm39) |
T83A |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bean1 |
A |
G |
8: 104,937,799 (GRCm39) |
Y126C |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,129,697 (GRCm39) |
E330G |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,122,332 (GRCm39) |
I45V |
probably benign |
Het |
| Cd320 |
G |
A |
17: 34,067,152 (GRCm39) |
G214R |
probably null |
Het |
| Ckm |
G |
A |
7: 19,153,419 (GRCm39) |
V237M |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,247,939 (GRCm39) |
V1496A |
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,793,960 (GRCm39) |
V565A |
possibly damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,182,853 (GRCm39) |
V338A |
probably benign |
Het |
| Eddm13 |
T |
G |
7: 6,261,624 (GRCm39) |
I35S |
possibly damaging |
Het |
| Ephb6 |
A |
G |
6: 41,594,799 (GRCm39) |
Y638C |
probably damaging |
Het |
| Fat2 |
G |
C |
11: 55,187,039 (GRCm39) |
S1269* |
probably null |
Het |
| Fbxo3 |
T |
C |
2: 103,883,820 (GRCm39) |
V348A |
probably damaging |
Het |
| Gas6 |
G |
A |
8: 13,520,254 (GRCm39) |
P478L |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,340,660 (GRCm39) |
S1670P |
probably damaging |
Het |
| Hnrnpk |
C |
A |
13: 58,542,331 (GRCm39) |
R281L |
probably damaging |
Het |
| Ifih1 |
C |
A |
2: 62,439,563 (GRCm39) |
C488F |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,441,559 (GRCm39) |
K192E |
probably benign |
Het |
| Ighv5-9 |
T |
A |
12: 113,625,440 (GRCm39) |
Q101L |
probably benign |
Het |
| Igkv3-2 |
G |
T |
6: 70,675,863 (GRCm39) |
M57I |
probably benign |
Het |
| Insyn2a |
A |
T |
7: 134,500,877 (GRCm39) |
Y409* |
probably null |
Het |
| Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,213,715 (GRCm39) |
Y237C |
unknown |
Het |
| Lats1 |
G |
A |
10: 7,588,347 (GRCm39) |
C988Y |
probably damaging |
Het |
| Lgals3 |
T |
A |
14: 47,619,079 (GRCm39) |
|
probably null |
Het |
| Lrrc3b |
G |
T |
14: 15,358,220 (GRCm38) |
H129N |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 102,899,273 (GRCm39) |
H1656R |
possibly damaging |
Het |
| Lypd6 |
T |
G |
2: 50,063,623 (GRCm39) |
Y43* |
probably null |
Het |
| Mettl25b |
A |
G |
3: 87,835,055 (GRCm39) |
S82P |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,927,884 (GRCm39) |
D674G |
possibly damaging |
Het |
| Msi1 |
G |
A |
5: 115,588,334 (GRCm39) |
R284Q |
probably damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,155,066 (GRCm39) |
E947G |
probably damaging |
Het |
| Nat14 |
T |
A |
7: 4,927,446 (GRCm39) |
L206Q |
probably damaging |
Het |
| Nup88 |
A |
T |
11: 70,856,672 (GRCm39) |
|
probably null |
Het |
| Or11g27 |
A |
T |
14: 50,771,061 (GRCm39) |
Y64F |
probably damaging |
Het |
| Or4k15 |
A |
G |
14: 50,364,939 (GRCm39) |
R302G |
probably benign |
Het |
| Or8g19 |
A |
T |
9: 39,056,145 (GRCm39) |
I250F |
probably damaging |
Het |
| Pdcl |
T |
C |
2: 37,245,778 (GRCm39) |
E75G |
probably damaging |
Het |
| Phf14 |
A |
G |
6: 11,953,421 (GRCm39) |
I387V |
possibly damaging |
Het |
| Phf3 |
G |
A |
1: 30,860,296 (GRCm39) |
R845W |
probably damaging |
Het |
| Pm20d1 |
T |
C |
1: 131,726,340 (GRCm39) |
I59T |
probably damaging |
Het |
| Prkd1 |
C |
T |
12: 50,466,631 (GRCm39) |
|
probably null |
Het |
| Psmb2 |
T |
C |
4: 126,571,558 (GRCm39) |
L4P |
probably damaging |
Het |
| Pttg1 |
T |
A |
11: 43,315,677 (GRCm39) |
K46* |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,764,395 (GRCm39) |
H1401R |
possibly damaging |
Het |
| Septin4 |
T |
A |
11: 87,458,429 (GRCm39) |
Y268N |
probably damaging |
Het |
| Sh3d19 |
G |
A |
3: 86,030,570 (GRCm39) |
D696N |
probably benign |
Het |
| Slc16a2 |
T |
C |
X: 102,751,585 (GRCm39) |
T274A |
probably benign |
Het |
| Slc26a6 |
G |
A |
9: 108,735,106 (GRCm39) |
A335T |
probably damaging |
Het |
| Slc49a3 |
T |
C |
5: 108,590,011 (GRCm39) |
M464V |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,274,723 (GRCm39) |
S37R |
probably damaging |
Het |
| Smoc1 |
G |
A |
12: 81,214,376 (GRCm39) |
G264S |
probably damaging |
Het |
| Snapc4 |
T |
C |
2: 26,264,193 (GRCm39) |
E280G |
possibly damaging |
Het |
| Snx25 |
G |
A |
8: 46,488,616 (GRCm39) |
T913M |
probably damaging |
Het |
| Snx7 |
T |
C |
3: 117,594,528 (GRCm39) |
T408A |
probably benign |
Het |
| Spdya |
T |
A |
17: 71,885,339 (GRCm39) |
S264R |
probably benign |
Het |
| Spg11 |
A |
T |
2: 121,928,580 (GRCm39) |
|
probably null |
Het |
| Suz12 |
T |
A |
11: 79,904,350 (GRCm39) |
L230Q |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,234,881 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
C |
A |
8: 48,689,005 (GRCm39) |
R2194L |
probably damaging |
Het |
| Tmed8 |
T |
A |
12: 87,221,005 (GRCm39) |
I194F |
probably damaging |
Het |
| Tmem79 |
T |
A |
3: 88,240,751 (GRCm39) |
T66S |
probably damaging |
Het |
| Trappc1 |
T |
A |
11: 69,216,337 (GRCm39) |
S118T |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,569,225 (GRCm39) |
V27223I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,606,839 (GRCm39) |
T18024A |
probably damaging |
Het |
| Vmn2r15 |
C |
T |
5: 109,441,940 (GRCm39) |
M164I |
probably benign |
Het |
| Vmn2r53 |
T |
A |
7: 12,334,901 (GRCm39) |
Y253F |
probably benign |
Het |
| Zfand6 |
C |
T |
7: 84,267,093 (GRCm39) |
R163H |
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 |
|
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'- CTGATTCACGTGGGAAGGTGAC -3'
(R):5'- TCCAAGAGGACATTGCATCC -3'
Sequencing Primer
(F):5'- CATGGTGTCAAATATGTCACTGGAG -3'
(R):5'- GACATTGCATCCTGTAGGTAGCC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation