Incidental Mutation 'IGL01114:Gpr89'
| ID |
50755 |
| 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 # |
IGL01114
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
96775630-96812662 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96800865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 88
(F88I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029738]
[ENSMUST00000154750]
|
| AlphaFold |
Q8BS95 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029738
AA Change: F88I
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029738
Gene: ENSMUSG00000028096
AA Change: F88I
| 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 |
noncoding transcript
Transcript: ENSMUST00000146645
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154750
AA Change: F88I
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000116016
Gene: ENSMUSG00000028096
AA Change: F88I
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700101I19Rik |
T |
C |
1: 34,618,370 (GRCm39) |
|
probably benign |
Het |
| Abca15 |
T |
G |
7: 119,960,643 (GRCm39) |
Y702D |
probably damaging |
Het |
| Abcc8 |
T |
C |
7: 45,754,088 (GRCm39) |
K1576R |
probably benign |
Het |
| Acot12 |
T |
A |
13: 91,905,711 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
A |
G |
2: 26,895,202 (GRCm39) |
I1098V |
probably benign |
Het |
| Adcy6 |
C |
T |
15: 98,496,857 (GRCm39) |
V471M |
probably damaging |
Het |
| Ccdc170 |
C |
A |
10: 4,508,550 (GRCm39) |
D591E |
probably benign |
Het |
| Corin |
A |
C |
5: 72,462,354 (GRCm39) |
D826E |
probably damaging |
Het |
| Cpsf2 |
T |
G |
12: 101,956,098 (GRCm39) |
N300K |
possibly damaging |
Het |
| Csmd2 |
C |
T |
4: 128,262,923 (GRCm39) |
T703I |
probably benign |
Het |
| D130043K22Rik |
T |
A |
13: 25,041,139 (GRCm39) |
L187Q |
probably damaging |
Het |
| D430041D05Rik |
G |
T |
2: 104,088,511 (GRCm39) |
S155* |
probably null |
Het |
| Dmrtc2 |
C |
T |
7: 24,572,001 (GRCm39) |
P32L |
probably damaging |
Het |
| Dsel |
G |
A |
1: 111,787,791 (GRCm39) |
R915* |
probably null |
Het |
| Fam124b |
T |
C |
1: 80,190,852 (GRCm39) |
Y177C |
possibly damaging |
Het |
| Fam171b |
G |
A |
2: 83,707,072 (GRCm39) |
W314* |
probably null |
Het |
| Gpn1 |
G |
T |
5: 31,655,745 (GRCm39) |
D103Y |
probably damaging |
Het |
| Ifi27l2a |
T |
C |
12: 103,403,792 (GRCm39) |
|
probably benign |
Het |
| Kdm4d |
A |
G |
9: 14,375,493 (GRCm39) |
Y122H |
probably damaging |
Het |
| Oas1d |
G |
A |
5: 121,054,907 (GRCm39) |
V160I |
probably benign |
Het |
| Or5b108 |
A |
G |
19: 13,168,598 (GRCm39) |
D189G |
possibly damaging |
Het |
| Or7e170 |
A |
T |
9: 19,794,844 (GRCm39) |
Y252* |
probably null |
Het |
| Poglut3 |
T |
C |
9: 53,299,879 (GRCm39) |
|
probably null |
Het |
| Rrp1b |
C |
T |
17: 32,271,793 (GRCm39) |
P288S |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,471,133 (GRCm39) |
K360R |
probably benign |
Het |
| Sympk |
A |
G |
7: 18,781,498 (GRCm39) |
D818G |
probably benign |
Het |
| Tecpr2 |
A |
G |
12: 110,934,213 (GRCm39) |
D1291G |
possibly damaging |
Het |
| Tep1 |
C |
T |
14: 51,088,096 (GRCm39) |
V814M |
probably damaging |
Het |
| Tpsg1 |
T |
C |
17: 25,592,196 (GRCm39) |
V17A |
probably benign |
Het |
|
| Other mutations in Gpr89 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Gpr89
|
APN |
3 |
96,805,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00757:Gpr89
|
APN |
3 |
96,778,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2013-06-21 |
Incidental Mutation