Incidental Mutation 'R7957:Gabrr2'
| ID |
649879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gabrr2
|
| Ensembl Gene |
ENSMUSG00000023267 |
| Gene Name |
gamma-aminobutyric acid (GABA) C receptor, subunit rho 2 |
| Synonyms |
|
| MMRRC Submission |
046001-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7957 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
33062999-33095865 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33081410 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 149
(T149A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024035
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024035]
[ENSMUST00000108162]
[ENSMUST00000131920]
|
| AlphaFold |
P56476 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024035
AA Change: T149A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000024035
Gene: ENSMUSG00000023267
AA Change: T149A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
81 |
286 |
3.4e-53 |
PFAM |
|
Pfam:Neur_chan_memb
|
293 |
454 |
1.9e-32 |
PFAM |
|
transmembrane domain
|
472 |
489 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108162
AA Change: T124A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103797
Gene: ENSMUSG00000023267
AA Change: T124A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
57 |
261 |
9.7e-57 |
PFAM |
|
Pfam:Neur_chan_memb
|
268 |
414 |
4.2e-36 |
PFAM |
|
transmembrane domain
|
447 |
464 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131920
AA Change: T25A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118514
Gene: ENSMUSG00000023267
AA Change: T25A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
1 |
162 |
3.3e-46 |
PFAM |
|
Pfam:Neur_chan_memb
|
169 |
204 |
3.5e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147889
|
| SMART Domains |
Protein: ENSMUSP00000114337
Gene: ENSMUSG00000023267
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
1 |
107 |
7.1e-28 |
PFAM |
|
Pfam:Neur_chan_memb
|
114 |
219 |
1.1e-33 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (46/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA type A receptor complex. This gene exists on chromosome 6q next to the gene encoding the rho 1 subunit of the GABA type A receptor, in a region thought to be associated with susceptibility for psychiatric disorders and epilepsy. Polymorphisms in this gene may also be associated with alcohol dependence, and general cognitive ability. [provided by RefSeq, Apr 2016]
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 110,091,613 (GRCm38) |
M1T |
probably null |
Het |
| Abhd2 |
T |
A |
7: 79,325,446 (GRCm38) |
M128K |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,317,212 (GRCm38) |
T1333A |
possibly damaging |
Het |
| Alg8 |
A |
G |
7: 97,390,924 (GRCm38) |
T438A |
probably benign |
Het |
| Ccn3 |
G |
T |
15: 54,746,338 (GRCm38) |
S78I |
possibly damaging |
Het |
| Cebpa |
A |
G |
7: 35,120,442 (GRCm38) |
I342V |
possibly damaging |
Het |
| Chd9 |
T |
C |
8: 91,051,698 (GRCm38) |
M2779T |
probably damaging |
Het |
| Cnot3 |
C |
A |
7: 3,658,222 (GRCm38) |
P577T |
probably benign |
Het |
| Col17a1 |
T |
C |
19: 47,661,117 (GRCm38) |
D755G |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,774,051 (GRCm38) |
V1443A |
unknown |
Het |
| Crygs |
C |
T |
16: 22,805,332 (GRCm38) |
R175H |
probably damaging |
Het |
| Fam193a |
A |
G |
5: 34,462,086 (GRCm38) |
D1031G |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,491,985 (GRCm38) |
H612L |
probably benign |
Het |
| Gm15922 |
C |
G |
7: 3,737,320 (GRCm38) |
A301P |
probably damaging |
Het |
| Gm3667 |
T |
C |
14: 6,872,332 (GRCm38) |
N156D |
probably benign |
Het |
| Hpcal1 |
T |
A |
12: 17,791,170 (GRCm38) |
L183Q |
probably damaging |
Het |
| Ilf2 |
G |
T |
3: 90,487,470 (GRCm38) |
E342* |
probably null |
Het |
| Ints13 |
A |
G |
6: 146,550,766 (GRCm38) |
S652P |
probably damaging |
Het |
| Kansl2 |
C |
A |
15: 98,524,618 (GRCm38) |
E356D |
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,949,451 (GRCm38) |
E448G |
probably null |
Het |
| Mmp14 |
A |
G |
14: 54,436,250 (GRCm38) |
I124V |
probably benign |
Het |
| Morc2b |
A |
T |
17: 33,135,773 (GRCm38) |
D1008E |
probably benign |
Het |
| Muc16 |
A |
C |
9: 18,643,471 (GRCm38) |
V3842G |
unknown |
Het |
| Myo9b |
A |
T |
8: 71,354,761 (GRCm38) |
I1614F |
probably benign |
Het |
| Nipa1 |
A |
T |
7: 55,979,799 (GRCm38) |
C189S |
probably damaging |
Het |
| Ntn4 |
T |
C |
10: 93,644,473 (GRCm38) |
|
probably benign |
Het |
| Olfr1274-ps |
A |
T |
2: 90,401,051 (GRCm38) |
Y130F |
probably damaging |
Het |
| Olfr329-ps |
A |
G |
11: 58,542,798 (GRCm38) |
L239P |
probably damaging |
Het |
| Or12k5 |
A |
G |
2: 37,004,960 (GRCm38) |
I218T |
probably benign |
Het |
| Or3a4 |
A |
C |
11: 74,054,156 (GRCm38) |
L201R |
probably damaging |
Het |
| Or8g17 |
T |
G |
9: 39,019,053 (GRCm38) |
I163L |
probably benign |
Het |
| Pank1 |
T |
A |
19: 34,813,696 (GRCm38) |
H528L |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,761,561 (GRCm38) |
L1698* |
probably null |
Het |
| Park7 |
A |
G |
4: 150,903,884 (GRCm38) |
S85P |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,687,209 (GRCm38) |
D1334G |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 79,214,969 (GRCm38) |
E30G |
probably benign |
Het |
| Rhbdf1 |
A |
G |
11: 32,210,523 (GRCm38) |
F676L |
probably damaging |
Het |
| Rsf1 |
GGC |
GGCCACGGCAGC |
7: 97,579,906 (GRCm38) |
|
probably benign |
Het |
| Scd4 |
G |
T |
19: 44,341,248 (GRCm38) |
M219I |
probably benign |
Het |
| Slfn5 |
T |
A |
11: 82,956,787 (GRCm38) |
I166N |
probably benign |
Het |
| Smim22 |
A |
T |
16: 5,008,225 (GRCm38) |
D85V |
probably damaging |
Het |
| Socs2 |
T |
C |
10: 95,414,950 (GRCm38) |
E7G |
probably benign |
Het |
| Thumpd2 |
T |
C |
17: 81,026,728 (GRCm38) |
E477G |
probably benign |
Het |
| Tlr12 |
C |
T |
4: 128,616,690 (GRCm38) |
G589D |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,764,855 (GRCm38) |
I20317K |
probably damaging |
Het |
| Ttyh2 |
A |
G |
11: 114,708,864 (GRCm38) |
|
probably null |
Het |
| Ugt2a3 |
T |
A |
5: 87,327,191 (GRCm38) |
D398V |
probably damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,413,132 (GRCm38) |
M101L |
|
Het |
| Vmn2r93 |
A |
T |
17: 18,325,692 (GRCm38) |
R609* |
probably null |
Het |
| Zfp473 |
C |
T |
7: 44,732,492 (GRCm38) |
E806K |
probably damaging |
Het |
| Zfp93 |
T |
C |
7: 24,275,574 (GRCm38) |
L328P |
probably damaging |
Het |
|
| Other mutations in Gabrr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01410:Gabrr2
|
APN |
4 |
33,085,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02070:Gabrr2
|
APN |
4 |
33,095,340 (GRCm38) |
nonsense |
probably null |
|
|
IGL03283:Gabrr2
|
APN |
4 |
33,082,364 (GRCm38) |
splice site |
probably benign |
|
|
D3080:Gabrr2
|
UTSW |
4 |
33,084,466 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1250:Gabrr2
|
UTSW |
4 |
33,063,273 (GRCm38) |
missense |
probably benign |
0.20 |
|
R1381:Gabrr2
|
UTSW |
4 |
33,081,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1630:Gabrr2
|
UTSW |
4 |
33,085,647 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1782:Gabrr2
|
UTSW |
4 |
33,085,593 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1830:Gabrr2
|
UTSW |
4 |
33,077,481 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2000:Gabrr2
|
UTSW |
4 |
33,084,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2125:Gabrr2
|
UTSW |
4 |
33,095,548 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2679:Gabrr2
|
UTSW |
4 |
33,071,435 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3695:Gabrr2
|
UTSW |
4 |
33,071,430 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3891:Gabrr2
|
UTSW |
4 |
33,081,348 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3892:Gabrr2
|
UTSW |
4 |
33,081,348 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4902:Gabrr2
|
UTSW |
4 |
33,095,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5328:Gabrr2
|
UTSW |
4 |
33,082,565 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5330:Gabrr2
|
UTSW |
4 |
33,082,583 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5331:Gabrr2
|
UTSW |
4 |
33,082,583 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5399:Gabrr2
|
UTSW |
4 |
33,071,458 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7299:Gabrr2
|
UTSW |
4 |
33,095,284 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7301:Gabrr2
|
UTSW |
4 |
33,095,284 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7605:Gabrr2
|
UTSW |
4 |
33,082,560 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7697:Gabrr2
|
UTSW |
4 |
33,071,358 (GRCm38) |
missense |
probably benign |
|
|
R7860:Gabrr2
|
UTSW |
4 |
33,081,470 (GRCm38) |
nonsense |
probably null |
|
|
R8161:Gabrr2
|
UTSW |
4 |
33,082,566 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8185:Gabrr2
|
UTSW |
4 |
33,082,330 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8463:Gabrr2
|
UTSW |
4 |
33,084,375 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8700:Gabrr2
|
UTSW |
4 |
33,095,488 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8778:Gabrr2
|
UTSW |
4 |
33,095,517 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9137:Gabrr2
|
UTSW |
4 |
33,095,571 (GRCm38) |
missense |
probably benign |
0.36 |
|
R9366:Gabrr2
|
UTSW |
4 |
33,085,771 (GRCm38) |
missense |
|
|
|
R9484:Gabrr2
|
UTSW |
4 |
33,071,352 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R9528:Gabrr2
|
UTSW |
4 |
33,081,483 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9704:Gabrr2
|
UTSW |
4 |
33,063,305 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
X0017:Gabrr2
|
UTSW |
4 |
33,082,328 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTGCAGTGAAGAGTGGTG -3'
(R):5'- AGGCTTGTGTCACCCCATAG -3'
Sequencing Primer
(F):5'- GGATCCATTGCTGGGAGGGAC -3'
(R):5'- CATCACGGCCAAAGGAGCTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation