Incidental Mutation 'R4680:Gpr26'
| ID |
349987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr26
|
| Ensembl Gene |
ENSMUSG00000040125 |
| Gene Name |
G protein-coupled receptor 26 |
| Synonyms |
9630036A11Rik |
| MMRRC Submission |
041933-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R4680 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
131567891-131587362 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131576082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 249
(T249A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045840]
[ENSMUST00000124096]
|
| AlphaFold |
Q8BZA7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045840
AA Change: T249A
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000041664
Gene: ENSMUSG00000040125
AA Change: T249A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
15 |
309 |
1.9e-7 |
PFAM |
|
Pfam:7tm_1
|
22 |
294 |
1.4e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
| SMART Domains |
Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2296 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
96% (48/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G protein-couple receptor protein. G-protein-coupled receptors are a large family of membrane proteins that are involved in cellular responses to environmental stimuli, neurotransmitters, and hormones. The encoded protein may play a role in neurodegenerative diseases. Epigenetic silencing of this gene has been observed in gliomas. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for one null allele exhibit increased anxiety- and depression-related behaviors and alcohol preference. Female mice homozygous for another allele display increased susceptibility to diet-induced obesity with increased food intake. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
T |
2: 151,315,390 (GRCm39) |
L96Q |
probably damaging |
Het |
| 4931414P19Rik |
T |
C |
14: 54,822,533 (GRCm39) |
Y368C |
probably damaging |
Het |
| Acin1 |
T |
C |
14: 54,924,215 (GRCm39) |
N8S |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,408,409 (GRCm39) |
V2432A |
probably benign |
Het |
| Atf2 |
A |
T |
2: 73,659,025 (GRCm39) |
|
probably null |
Het |
| B3gnt2 |
A |
G |
11: 22,787,105 (GRCm39) |
S28P |
probably damaging |
Het |
| Chil5 |
A |
G |
3: 105,942,191 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
A |
T |
15: 73,405,225 (GRCm39) |
H326L |
possibly damaging |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| Eprs1 |
T |
C |
1: 185,118,475 (GRCm39) |
V461A |
possibly damaging |
Het |
| Fhad1 |
G |
A |
4: 141,738,858 (GRCm39) |
Q31* |
probably null |
Het |
| Gtf2ird1 |
T |
A |
5: 134,386,735 (GRCm39) |
M958L |
probably damaging |
Het |
| Kat2b-ps |
A |
G |
5: 93,539,299 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm2b |
A |
T |
5: 123,072,849 (GRCm39) |
V343E |
probably damaging |
Het |
| Lipi |
A |
G |
16: 75,362,417 (GRCm39) |
|
probably null |
Het |
| Ltb4r1 |
T |
C |
14: 56,004,925 (GRCm39) |
F76S |
probably damaging |
Het |
| Msantd2 |
A |
G |
9: 37,434,387 (GRCm39) |
Y209C |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,647,437 (GRCm39) |
C401Y |
probably damaging |
Het |
| Obox1 |
A |
T |
7: 15,290,089 (GRCm39) |
N144I |
probably damaging |
Het |
| Or14j7 |
T |
C |
17: 38,234,813 (GRCm39) |
S119P |
probably damaging |
Het |
| Or8h9 |
T |
C |
2: 86,789,665 (GRCm39) |
I46V |
possibly damaging |
Het |
| Or8k20 |
T |
A |
2: 86,106,517 (GRCm39) |
I105F |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,064,775 (GRCm39) |
E1630G |
unknown |
Het |
| Ppp2r5e |
C |
T |
12: 75,516,533 (GRCm39) |
R218Q |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,589,894 (GRCm39) |
T2586A |
probably benign |
Het |
| Ptprj |
T |
C |
2: 90,290,840 (GRCm39) |
N633S |
probably benign |
Het |
| Rab11fip2 |
T |
C |
19: 59,924,452 (GRCm39) |
N284S |
probably benign |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Ropn1 |
A |
G |
16: 34,497,675 (GRCm39) |
Q189R |
possibly damaging |
Het |
| Rwdd2b |
A |
G |
16: 87,233,950 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,610,119 (GRCm39) |
S4236T |
probably benign |
Het |
| Sigmar1 |
A |
G |
4: 41,741,251 (GRCm39) |
M1T |
probably null |
Het |
| Sncg |
T |
A |
14: 34,095,268 (GRCm39) |
N79I |
probably benign |
Het |
| Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,763,021 (GRCm39) |
G3213S |
probably damaging |
Het |
| Uqcrc1 |
G |
A |
9: 108,776,929 (GRCm39) |
R77H |
probably damaging |
Het |
| Vps13d |
A |
C |
4: 144,835,080 (GRCm39) |
L2756R |
possibly damaging |
Het |
|
| Other mutations in Gpr26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01065:Gpr26
|
APN |
7 |
131,569,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01345:Gpr26
|
APN |
7 |
131,569,161 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01658:Gpr26
|
APN |
7 |
131,585,834 (GRCm39) |
missense |
probably benign |
|
|
IGL02724:Gpr26
|
APN |
7 |
131,576,121 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0408:Gpr26
|
UTSW |
7 |
131,576,001 (GRCm39) |
splice site |
probably null |
|
|
R0408:Gpr26
|
UTSW |
7 |
131,569,249 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0547:Gpr26
|
UTSW |
7 |
131,586,026 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2508:Gpr26
|
UTSW |
7 |
131,568,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4088:Gpr26
|
UTSW |
7 |
131,568,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4630:Gpr26
|
UTSW |
7 |
131,568,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4756:Gpr26
|
UTSW |
7 |
131,569,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5229:Gpr26
|
UTSW |
7 |
131,585,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5610:Gpr26
|
UTSW |
7 |
131,568,694 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6605:Gpr26
|
UTSW |
7 |
131,585,893 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6653:Gpr26
|
UTSW |
7 |
131,585,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7213:Gpr26
|
UTSW |
7 |
131,569,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7351:Gpr26
|
UTSW |
7 |
131,576,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Gpr26
|
UTSW |
7 |
131,576,077 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7887:Gpr26
|
UTSW |
7 |
131,568,702 (GRCm39) |
missense |
probably benign |
|
|
R8822:Gpr26
|
UTSW |
7 |
131,568,997 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9382:Gpr26
|
UTSW |
7 |
131,568,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9508:Gpr26
|
UTSW |
7 |
131,585,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Gpr26
|
UTSW |
7 |
131,585,823 (GRCm39) |
frame shift |
probably null |
|
|
Z1176:Gpr26
|
UTSW |
7 |
131,568,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gpr26
|
UTSW |
7 |
131,568,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGCCACGTGCCTCAAAG -3'
(R):5'- TTTCACACAGGGCTTCACAGG -3'
Sequencing Primer
(F):5'- ACGTGCCTCAAAGCTGTG -3'
(R):5'- ACTGGTGACTATGCGCAATC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation