Incidental Mutation 'IGL00421:Gpr89'
ID |
6814 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gpr89
|
Ensembl Gene |
ENSMUSG00000028096 |
Gene Name |
G protein-coupled receptor 89 |
Synonyms |
SH120, 4933412D19Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.383)
|
Stock # |
IGL00421
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
96775630-96812662 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96805839 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 24
(F24S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116016
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029738]
[ENSMUST00000154750]
|
AlphaFold |
Q8BS95 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029738
AA Change: F24S
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000029738 Gene: ENSMUSG00000028096 AA Change: F24S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
transmembrane domain
|
75 |
97 |
N/A |
INTRINSIC |
transmembrane domain
|
110 |
127 |
N/A |
INTRINSIC |
Pfam:GPHR_N
|
140 |
207 |
1.1e-31 |
PFAM |
Pfam:ABA_GPCR
|
276 |
446 |
4.9e-46 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139599
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154750
AA Change: F24S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116016 Gene: ENSMUSG00000028096 AA Change: F24S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
transmembrane domain
|
75 |
97 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199586
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap8 |
T |
C |
17: 32,536,254 (GRCm39) |
Y53C |
probably damaging |
Het |
Ampd3 |
C |
T |
7: 110,402,354 (GRCm39) |
R453C |
probably benign |
Het |
Apob |
A |
C |
12: 8,060,197 (GRCm39) |
D2860A |
probably damaging |
Het |
Arhgef1 |
C |
A |
7: 24,607,784 (GRCm39) |
R52S |
possibly damaging |
Het |
Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
Cacna1i |
A |
T |
15: 80,266,220 (GRCm39) |
D1569V |
probably damaging |
Het |
Clic6 |
A |
T |
16: 92,296,196 (GRCm39) |
E285D |
probably damaging |
Het |
Dok5 |
T |
G |
2: 170,671,876 (GRCm39) |
|
probably null |
Het |
Grsf1 |
T |
C |
5: 88,818,137 (GRCm39) |
D84G |
probably damaging |
Het |
Kif27 |
T |
C |
13: 58,491,703 (GRCm39) |
K479E |
probably damaging |
Het |
Mx2 |
A |
T |
16: 97,345,678 (GRCm39) |
N32I |
probably damaging |
Het |
Myo16 |
G |
T |
8: 10,488,889 (GRCm39) |
V687F |
probably damaging |
Het |
Nlrp3 |
A |
G |
11: 59,456,769 (GRCm39) |
D977G |
probably damaging |
Het |
Nol6 |
A |
T |
4: 41,123,374 (GRCm39) |
V97E |
possibly damaging |
Het |
Pcdh15 |
T |
A |
10: 74,021,177 (GRCm39) |
Y130* |
probably null |
Het |
Pnpla7 |
T |
A |
2: 24,866,327 (GRCm39) |
|
probably null |
Het |
Pramel51 |
A |
T |
12: 88,143,882 (GRCm39) |
D310E |
probably benign |
Het |
Prcc |
A |
T |
3: 87,779,515 (GRCm39) |
|
probably null |
Het |
Sbf2 |
A |
C |
7: 109,975,039 (GRCm39) |
|
probably benign |
Het |
Secisbp2l |
C |
A |
2: 125,585,776 (GRCm39) |
V859F |
probably damaging |
Het |
Sptbn2 |
C |
A |
19: 4,774,733 (GRCm39) |
Q129K |
possibly damaging |
Het |
Srrm2 |
G |
A |
17: 24,031,452 (GRCm39) |
S295N |
probably benign |
Het |
Tacr3 |
A |
C |
3: 134,560,582 (GRCm39) |
I174L |
probably benign |
Het |
Tchp |
A |
C |
5: 114,846,794 (GRCm39) |
D27A |
probably benign |
Het |
Usp31 |
A |
T |
7: 121,247,873 (GRCm39) |
V1190D |
probably damaging |
Het |
Zfp462 |
A |
G |
4: 55,023,576 (GRCm39) |
T2122A |
probably benign |
Het |
|
Other mutations in Gpr89 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00757:Gpr89
|
APN |
3 |
96,778,850 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01114:Gpr89
|
APN |
3 |
96,800,865 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02417:Gpr89
|
APN |
3 |
96,804,741 (GRCm39) |
nonsense |
probably null |
|
explorer
|
UTSW |
3 |
96,787,385 (GRCm39) |
splice site |
probably null |
|
R0207:Gpr89
|
UTSW |
3 |
96,778,796 (GRCm39) |
missense |
probably damaging |
0.99 |
R0650:Gpr89
|
UTSW |
3 |
96,804,640 (GRCm39) |
splice site |
probably benign |
|
R0704:Gpr89
|
UTSW |
3 |
96,787,484 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1496:Gpr89
|
UTSW |
3 |
96,812,526 (GRCm39) |
missense |
probably benign |
0.00 |
R1869:Gpr89
|
UTSW |
3 |
96,782,975 (GRCm39) |
missense |
probably benign |
0.16 |
R1913:Gpr89
|
UTSW |
3 |
96,782,949 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2264:Gpr89
|
UTSW |
3 |
96,779,831 (GRCm39) |
missense |
probably damaging |
0.99 |
R2276:Gpr89
|
UTSW |
3 |
96,804,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R3822:Gpr89
|
UTSW |
3 |
96,800,260 (GRCm39) |
missense |
probably benign |
0.03 |
R3922:Gpr89
|
UTSW |
3 |
96,798,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R4984:Gpr89
|
UTSW |
3 |
96,812,512 (GRCm39) |
missense |
probably benign |
0.02 |
R5761:Gpr89
|
UTSW |
3 |
96,800,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R6185:Gpr89
|
UTSW |
3 |
96,798,149 (GRCm39) |
missense |
probably damaging |
0.99 |
R7063:Gpr89
|
UTSW |
3 |
96,783,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R7164:Gpr89
|
UTSW |
3 |
96,778,714 (GRCm39) |
missense |
probably benign |
0.04 |
R7172:Gpr89
|
UTSW |
3 |
96,787,385 (GRCm39) |
splice site |
probably null |
|
R7215:Gpr89
|
UTSW |
3 |
96,787,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R7536:Gpr89
|
UTSW |
3 |
96,798,209 (GRCm39) |
missense |
probably damaging |
0.96 |
R7708:Gpr89
|
UTSW |
3 |
96,787,941 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7849:Gpr89
|
UTSW |
3 |
96,778,806 (GRCm39) |
nonsense |
probably null |
|
R8273:Gpr89
|
UTSW |
3 |
96,812,505 (GRCm39) |
missense |
probably benign |
|
R9643:Gpr89
|
UTSW |
3 |
96,780,813 (GRCm39) |
missense |
probably damaging |
0.97 |
RF019:Gpr89
|
UTSW |
3 |
96,812,509 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2012-04-20 |