Incidental Mutation 'R8758:Glra1'
| ID |
671748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glra1
|
| Ensembl Gene |
ENSMUSG00000000263 |
| Gene Name |
glycine receptor, alpha 1 subunit |
| Synonyms |
nmf11, B230397M16Rik, ot, oscillator |
| MMRRC Submission |
068598-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.292)
|
| Stock # |
R8758 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
55405065-55499024 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55418191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 268
(I268F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075603]
[ENSMUST00000102716]
[ENSMUST00000108853]
|
| AlphaFold |
Q64018 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075603
AA Change: I268F
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000075032
Gene: ENSMUSG00000000263
AA Change: I268F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
38 |
248 |
1.2e-55 |
PFAM |
|
Pfam:Neur_chan_memb
|
255 |
400 |
2.8e-35 |
PFAM |
|
PDB:2M6I|E
|
416 |
453 |
5e-17 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102716
AA Change: I268F
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099777
Gene: ENSMUSG00000000263
AA Change: I268F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
39 |
248 |
7e-58 |
PFAM |
|
Pfam:Neur_chan_memb
|
255 |
355 |
3.7e-38 |
PFAM |
|
Pfam:Neur_chan_memb
|
344 |
435 |
1.1e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108853
AA Change: I185F
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104481
Gene: ENSMUSG00000000263
AA Change: I185F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
1 |
165 |
1.6e-46 |
PFAM |
|
Pfam:Neur_chan_memb
|
172 |
270 |
3.9e-38 |
PFAM |
|
Pfam:Neur_chan_memb
|
254 |
352 |
7.9e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mutations in this gene result in neurological defects for all alleles reported. Specific alleles also show affects on viability, reproductive performance, and/or eye and respiratory physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
G |
A |
4: 39,450,811 (GRCm39) |
D6N |
probably benign |
Het |
| AC157566.4 |
T |
C |
15: 76,418,382 (GRCm39) |
I42M |
probably benign |
Het |
| Amer2 |
C |
T |
14: 60,616,326 (GRCm39) |
R174C |
probably damaging |
Het |
| Arl8a |
A |
T |
1: 135,082,189 (GRCm39) |
D139V |
possibly damaging |
Het |
| Csmd3 |
A |
G |
15: 47,469,593 (GRCm39) |
Y2525H |
|
Het |
| Cwc22 |
T |
C |
2: 77,747,441 (GRCm39) |
E424G |
possibly damaging |
Het |
| D930048N14Rik |
A |
G |
11: 51,544,568 (GRCm39) |
T80A |
unknown |
Het |
| Ddx25 |
T |
A |
9: 35,453,300 (GRCm39) |
E483D |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,838,231 (GRCm39) |
E1057D |
probably benign |
Het |
| Dock7 |
C |
T |
4: 98,949,555 (GRCm39) |
R429Q |
|
Het |
| Dzip3 |
T |
C |
16: 48,798,300 (GRCm39) |
Y135C |
probably damaging |
Het |
| Evi5l |
G |
T |
8: 4,255,860 (GRCm39) |
A618S |
probably benign |
Het |
| Fibp |
A |
G |
19: 5,514,970 (GRCm39) |
D348G |
possibly damaging |
Het |
| Gimd1 |
T |
A |
3: 132,340,799 (GRCm39) |
L105H |
probably damaging |
Het |
| Gm30191 |
A |
G |
4: 133,977,099 (GRCm39) |
T104A |
probably benign |
Het |
| Gm49359 |
A |
T |
13: 62,602,150 (GRCm39) |
I350K |
possibly damaging |
Het |
| Gpm6a |
T |
C |
8: 55,511,833 (GRCm39) |
S236P |
probably damaging |
Het |
| Igkv4-74 |
AG |
A |
6: 69,162,311 (GRCm39) |
|
probably null |
Het |
| Ikzf1 |
A |
G |
11: 11,711,359 (GRCm39) |
S198G |
probably benign |
Het |
| Kcna4 |
T |
A |
2: 107,126,494 (GRCm39) |
D409E |
probably damaging |
Het |
| Lipt2 |
GGCGCCCGCGCGCG |
GGCG |
7: 99,808,888 (GRCm39) |
|
probably null |
Het |
| Mgam |
T |
A |
6: 40,705,977 (GRCm39) |
D15E |
probably benign |
Het |
| Mmrn1 |
A |
G |
6: 60,964,193 (GRCm39) |
D1065G |
possibly damaging |
Het |
| Plxnc1 |
A |
C |
10: 94,758,607 (GRCm39) |
V363G |
possibly damaging |
Het |
| Ppp1r16b |
G |
A |
2: 158,593,098 (GRCm39) |
D226N |
probably damaging |
Het |
| Psg21 |
T |
C |
7: 18,384,678 (GRCm39) |
Y356C |
probably damaging |
Het |
| Ranbp1 |
T |
C |
16: 18,059,659 (GRCm39) |
D130G |
probably damaging |
Het |
| Rb1cc1 |
A |
T |
1: 6,310,451 (GRCm39) |
Q283L |
probably benign |
Het |
| Rph3a |
A |
T |
5: 121,097,365 (GRCm39) |
H250Q |
probably benign |
Het |
| Secisbp2 |
G |
A |
13: 51,833,869 (GRCm39) |
V670I |
possibly damaging |
Het |
| Skil |
C |
T |
3: 31,172,686 (GRCm39) |
A605V |
probably damaging |
Het |
| Slc28a3 |
T |
C |
13: 58,720,424 (GRCm39) |
T312A |
probably benign |
Het |
| Ssh2 |
T |
A |
11: 77,344,843 (GRCm39) |
C943S |
probably benign |
Het |
| Tgfbi |
C |
T |
13: 56,779,894 (GRCm39) |
A481V |
probably damaging |
Het |
| Tgfbr3 |
G |
A |
5: 107,297,750 (GRCm39) |
P217S |
probably damaging |
Het |
| Tmem135 |
A |
T |
7: 88,954,721 (GRCm39) |
W99R |
probably benign |
Het |
| Tmx1 |
A |
G |
12: 70,502,788 (GRCm39) |
Y52C |
possibly damaging |
Het |
| Ube3b |
A |
T |
5: 114,553,261 (GRCm39) |
|
probably benign |
Het |
| Vmn2r57 |
G |
T |
7: 41,078,163 (GRCm39) |
N98K |
probably damaging |
Het |
| Vwa3b |
A |
G |
1: 37,176,873 (GRCm39) |
D40G |
|
Het |
| Zfyve26 |
A |
G |
12: 79,311,083 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Glra1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01357:Glra1
|
APN |
11 |
55,405,715 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02792:Glra1
|
APN |
11 |
55,427,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03151:Glra1
|
APN |
11 |
55,418,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Adagio
|
UTSW |
11 |
55,418,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1331:Glra1
|
UTSW |
11 |
55,405,896 (GRCm39) |
missense |
probably benign |
|
|
R1666:Glra1
|
UTSW |
11 |
55,465,225 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4734:Glra1
|
UTSW |
11 |
55,427,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Glra1
|
UTSW |
11 |
55,427,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Glra1
|
UTSW |
11 |
55,418,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5025:Glra1
|
UTSW |
11 |
55,427,331 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5496:Glra1
|
UTSW |
11 |
55,418,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5533:Glra1
|
UTSW |
11 |
55,423,208 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5837:Glra1
|
UTSW |
11 |
55,427,333 (GRCm39) |
splice site |
probably null |
|
|
R6023:Glra1
|
UTSW |
11 |
55,424,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Glra1
|
UTSW |
11 |
55,418,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Glra1
|
UTSW |
11 |
55,418,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6575:Glra1
|
UTSW |
11 |
55,411,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6971:Glra1
|
UTSW |
11 |
55,427,325 (GRCm39) |
nonsense |
probably null |
|
|
R7166:Glra1
|
UTSW |
11 |
55,405,904 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7912:Glra1
|
UTSW |
11 |
55,411,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7953:Glra1
|
UTSW |
11 |
55,424,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8043:Glra1
|
UTSW |
11 |
55,424,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8046:Glra1
|
UTSW |
11 |
55,427,225 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9520:Glra1
|
UTSW |
11 |
55,405,897 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCCATGTCTCAGCTAGAG -3'
(R):5'- GAACAATTCGGTCGCTTGC -3'
Sequencing Primer
(F):5'- AGATGAGAGGTGATGGAGTCTTCTC -3'
(R):5'- GTCGCTTGCCTGTGAACAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation