Incidental Mutation 'RF019:Gpr89'
| ID |
603727 |
| Institutional Source |
Beutler Lab
|
| 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 # |
RF019 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
96775630-96812662 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96812509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 11
(I11V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029738]
[ENSMUST00000154750]
[ENSMUST00000199597]
|
| AlphaFold |
Q8BS95 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029738
AA Change: I11V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029738
Gene: ENSMUSG00000028096
AA Change: I11V
| 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 |
probably benign
Transcript: ENSMUST00000154750
AA Change: I11V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116016
Gene: ENSMUSG00000028096
AA Change: I11V
| 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 |
probably benign
Transcript: ENSMUST00000199597
|
| SMART Domains |
Protein: ENSMUSP00000143542
Gene: ENSMUSG00000057123
| Domain | Start | End | E-Value | Type |
|---|
|
CNX
|
43 |
76 |
3.47e-19 |
SMART |
|
Connexin_CCC
|
163 |
229 |
2.45e-37 |
SMART |
|
Pfam:Connexin40_C
|
257 |
358 |
2.4e-33 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.8%
|
| Validation Efficiency |
86% (36/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
A |
G |
1: 138,784,429 (GRCm39) |
S43P |
probably benign |
Het |
| 3110021N24Rik |
AGCGCGGCCGGG |
AG |
4: 108,637,827 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
A |
G |
8: 123,623,373 (GRCm39) |
V294A |
probably damaging |
Het |
| Ciita |
T |
A |
16: 10,324,611 (GRCm39) |
I181N |
probably damaging |
Het |
| Col6a1 |
T |
C |
10: 76,547,449 (GRCm39) |
M675V |
unknown |
Het |
| Colec11 |
A |
G |
12: 28,662,882 (GRCm39) |
V62A |
probably benign |
Het |
| Eif3i |
T |
C |
4: 129,494,258 (GRCm39) |
T14A |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,004 (GRCm39) |
T531A |
probably benign |
Het |
| Fscb |
GAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT |
GAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT |
12: 64,519,370 (GRCm39) |
|
probably benign |
Het |
| Garre1 |
A |
G |
7: 33,939,974 (GRCm39) |
F918L |
probably damaging |
Het |
| H13 |
G |
A |
2: 152,511,589 (GRCm39) |
E30K |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,955,467 (GRCm39) |
V1261A |
probably benign |
Het |
| Itgad |
C |
A |
7: 127,791,380 (GRCm39) |
H751N |
probably benign |
Het |
| Krtap28-10 |
CCACAGCCACAGCCA |
CCACAGCCACAGCCAACACAGCCACAGCCA |
1: 83,019,990 (GRCm39) |
|
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,625,061 (GRCm39) |
K419E |
not run |
Het |
| Mast4 |
GGTGGTGGTGG |
GGTGGTGGTGGTGGTGG |
13: 102,872,815 (GRCm39) |
|
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 120,252,289 (GRCm39) |
W534R |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,829,055 (GRCm39) |
V2387A |
probably benign |
Het |
| Ncapg |
C |
A |
5: 45,856,198 (GRCm39) |
P949Q |
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,885,713 (GRCm39) |
F796S |
probably damaging |
Het |
| Otol1 |
A |
T |
3: 69,925,933 (GRCm39) |
E36V |
probably benign |
Het |
| Pkhd1l1 |
TT |
TTTTTTTTTAT |
15: 44,421,903 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,203,423 (GRCm39) |
I1095T |
possibly damaging |
Het |
| Reep1 |
C |
CCGCG |
6: 71,684,953 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
GCAGCA |
GCAGCAACAGCA |
19: 26,608,401 (GRCm39) |
|
probably benign |
Het |
| Tcf20 |
T |
C |
15: 82,735,794 (GRCm39) |
I1886V |
probably benign |
Het |
| Txnrd1 |
T |
G |
10: 82,720,934 (GRCm39) |
|
probably null |
Het |
| Unc5b |
A |
G |
10: 60,618,962 (GRCm39) |
V60A |
probably damaging |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,091 (GRCm39) |
V293E |
probably damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,468,327 (GRCm39) |
D2853E |
probably benign |
Het |
| Zfp108 |
G |
T |
7: 23,961,032 (GRCm39) |
R541L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAGCTCAGACTTGGACCTC -3'
(R):5'- TCCAGGCAAACGGAGAATGC -3'
Sequencing Primer
(F):5'- GAGGCAAACGTGTCAGCACC -3'
(R):5'- AGAATGCGGCCGCTGATTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation