Incidental Mutation 'R3822:Gpr89'
ID |
275218 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpr89
|
Ensembl Gene |
ENSMUSG00000028096 |
Gene Name |
G protein-coupled receptor 89 |
Synonyms |
SH120, 4933412D19Rik |
MMRRC Submission |
040884-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.383)
|
Stock # |
R3822 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
96775630-96812662 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96800260 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 113
(S113P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029738
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029738]
[ENSMUST00000154750]
|
AlphaFold |
Q8BS95 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029738
AA Change: S113P
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000029738 Gene: ENSMUSG00000028096 AA Change: S113P
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 |
silent
Transcript: ENSMUST00000154750
|
SMART Domains |
Protein: ENSMUSP00000116016 Gene: ENSMUSG00000028096
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
|
Meta Mutation Damage Score |
0.0778 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
100% (34/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aarsd1 |
T |
A |
11: 101,301,971 (GRCm39) |
I332F |
probably damaging |
Het |
Acp3 |
G |
T |
9: 104,201,916 (GRCm39) |
Q76K |
probably damaging |
Het |
Anp32e |
A |
T |
3: 95,842,181 (GRCm39) |
I100L |
probably benign |
Het |
Ccdc13 |
C |
A |
9: 121,660,085 (GRCm39) |
L76F |
probably damaging |
Het |
Cd44 |
T |
C |
2: 102,731,738 (GRCm39) |
|
probably null |
Het |
Chka |
A |
G |
19: 3,932,038 (GRCm39) |
|
probably benign |
Het |
Cnot6 |
A |
T |
11: 49,579,999 (GRCm39) |
S98T |
probably benign |
Het |
Cth |
A |
G |
3: 157,624,136 (GRCm39) |
F127S |
probably benign |
Het |
Dnah9 |
C |
A |
11: 65,741,829 (GRCm39) |
|
probably null |
Het |
Dysf |
T |
C |
6: 84,184,070 (GRCm39) |
|
probably benign |
Het |
Flad1 |
T |
A |
3: 89,318,494 (GRCm39) |
I20F |
probably damaging |
Het |
Gm20730 |
C |
T |
6: 43,058,656 (GRCm39) |
S52N |
probably benign |
Het |
Herpud2 |
G |
A |
9: 25,036,220 (GRCm39) |
Q147* |
probably null |
Het |
Hivep1 |
A |
T |
13: 42,337,787 (GRCm39) |
H2622L |
possibly damaging |
Het |
Hlcs |
T |
C |
16: 94,068,840 (GRCm39) |
N274D |
probably benign |
Het |
Ido2 |
T |
C |
8: 25,023,771 (GRCm39) |
I356V |
probably benign |
Het |
Insyn2b |
T |
C |
11: 34,353,007 (GRCm39) |
S350P |
probably benign |
Het |
Itgam |
A |
G |
7: 127,711,458 (GRCm39) |
|
probably null |
Het |
Lama1 |
C |
A |
17: 68,086,041 (GRCm39) |
|
probably null |
Het |
Lrrc4b |
T |
A |
7: 44,111,982 (GRCm39) |
V618E |
probably damaging |
Het |
Man1a2 |
A |
G |
3: 100,539,913 (GRCm39) |
I176T |
possibly damaging |
Het |
Mns1 |
A |
G |
9: 72,346,730 (GRCm39) |
E71G |
probably damaging |
Het |
Ncoa6 |
T |
A |
2: 155,248,858 (GRCm39) |
N1482I |
probably damaging |
Het |
Neto2 |
C |
A |
8: 86,389,924 (GRCm39) |
E180* |
probably null |
Het |
Psmb7 |
A |
T |
2: 38,503,440 (GRCm39) |
|
probably benign |
Het |
Rin2 |
C |
T |
2: 145,664,550 (GRCm39) |
T60M |
probably benign |
Het |
Slc28a3 |
A |
G |
13: 58,706,092 (GRCm39) |
V639A |
probably benign |
Het |
Tenm2 |
A |
T |
11: 35,915,147 (GRCm39) |
I2129N |
probably damaging |
Het |
Topaz1 |
A |
G |
9: 122,626,848 (GRCm39) |
D1492G |
possibly damaging |
Het |
Trank1 |
G |
A |
9: 111,207,887 (GRCm39) |
G1711R |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,867,451 (GRCm39) |
|
probably benign |
Het |
Ugt1a6a |
T |
A |
1: 88,066,251 (GRCm39) |
V19E |
probably benign |
Het |
Vmn2r60 |
A |
T |
7: 41,785,125 (GRCm39) |
E112D |
probably damaging |
Het |
Wdr4 |
T |
G |
17: 31,731,195 (GRCm39) |
Q55P |
probably damaging |
Het |
Xpnpep1 |
G |
A |
19: 52,992,250 (GRCm39) |
|
probably benign |
Het |
Zfyve16 |
A |
T |
13: 92,657,769 (GRCm39) |
L714Q |
probably damaging |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATTTGGTACCCTCAGAAAGAAGGAAAC -3'
(R):5'- CTGCTTACACATAAGAAAGGTTTCC -3'
Sequencing Primer
(F):5'- CCCTCAGAAAGAAGGAAACATTTTG -3'
(R):5'- CATAAGAAAGGTTTCCTAATGGTGG -3'
|
Posted On |
2015-04-02 |