Incidental Mutation 'R7063:Gpr89'
| ID |
548382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr89
|
| Ensembl Gene |
ENSMUSG00000028096 |
| Gene Name |
G protein-coupled receptor 89 |
| Synonyms |
SH120, 4933412D19Rik |
| MMRRC Submission |
045159-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.445)
|
| Stock # |
R7063 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
96775630-96812662 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 96783014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Proline
at position 312
(R312P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029738]
[ENSMUST00000058865]
[ENSMUST00000107070]
|
| AlphaFold |
Q8BS95 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029738
AA Change: R312P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029738
Gene: ENSMUSG00000028096
AA Change: R312P
| 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: ENSMUST00000058865
|
| SMART Domains |
Protein: ENSMUSP00000058936
Gene: ENSMUSG00000038298
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
18 |
90 |
2.41e-17 |
SMART |
|
PDZ
|
143 |
215 |
1e-14 |
SMART |
|
PDZ
|
251 |
323 |
2.81e-18 |
SMART |
|
PDZ
|
386 |
458 |
4.5e-17 |
SMART |
|
low complexity region
|
505 |
514 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107070
|
| SMART Domains |
Protein: ENSMUSP00000102685
Gene: ENSMUSG00000038298
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
18 |
90 |
2.41e-17 |
SMART |
|
PDZ
|
143 |
215 |
1e-14 |
SMART |
|
PDZ
|
251 |
323 |
2.81e-18 |
SMART |
|
PDZ
|
386 |
458 |
4.5e-17 |
SMART |
|
low complexity region
|
505 |
514 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap35 |
A |
G |
7: 16,299,038 (GRCm39) |
V9A |
probably benign |
Het |
| Btbd6 |
A |
G |
12: 112,941,132 (GRCm39) |
Y148C |
probably damaging |
Het |
| Casr |
T |
C |
16: 36,314,936 (GRCm39) |
I968V |
probably benign |
Het |
| Celf1 |
T |
C |
2: 90,843,189 (GRCm39) |
|
probably null |
Het |
| Chst2 |
G |
T |
9: 95,287,621 (GRCm39) |
R242S |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,460,967 (GRCm39) |
D228V |
probably damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,430,532 (GRCm39) |
Y288C |
probably benign |
Het |
| Cyp2r1 |
A |
G |
7: 114,152,184 (GRCm39) |
S49P |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,233,394 (GRCm39) |
E251G |
probably benign |
Het |
| Eepd1 |
A |
G |
9: 25,394,332 (GRCm39) |
R199G |
possibly damaging |
Het |
| Fat1 |
C |
T |
8: 45,493,812 (GRCm39) |
T3986I |
probably benign |
Het |
| Gbp4 |
G |
A |
5: 105,266,314 (GRCm39) |
R576C |
probably damaging |
Het |
| Glp1r |
A |
G |
17: 31,144,532 (GRCm39) |
Y235C |
probably damaging |
Het |
| Gm6408 |
T |
C |
5: 146,420,594 (GRCm39) |
I158T |
probably benign |
Het |
| Idh2 |
A |
G |
7: 79,745,432 (GRCm39) |
V403A |
probably damaging |
Het |
| Lclat1 |
A |
G |
17: 73,546,986 (GRCm39) |
E301G |
possibly damaging |
Het |
| Lgmn |
A |
G |
12: 102,368,937 (GRCm39) |
Y181H |
probably damaging |
Het |
| Lgr5 |
T |
C |
10: 115,292,639 (GRCm39) |
Y417C |
probably damaging |
Het |
| Man1a |
G |
T |
10: 53,906,840 (GRCm39) |
N311K |
probably damaging |
Het |
| Nat10 |
G |
A |
2: 103,578,422 (GRCm39) |
L228F |
probably benign |
Het |
| Or10d3 |
T |
G |
9: 39,461,411 (GRCm39) |
Y252S |
possibly damaging |
Het |
| Or10v5 |
A |
G |
19: 11,805,548 (GRCm39) |
F281L |
probably damaging |
Het |
| Or5b12b |
A |
G |
19: 12,861,449 (GRCm39) |
D68G |
probably damaging |
Het |
| Or5p55 |
C |
A |
7: 107,567,411 (GRCm39) |
A269E |
probably benign |
Het |
| Pcmtd2 |
T |
A |
2: 181,496,776 (GRCm39) |
Y130* |
probably null |
Het |
| Potefam3f |
G |
A |
8: 20,479,013 (GRCm39) |
C7Y |
|
Het |
| Qrfprl |
A |
G |
6: 65,418,387 (GRCm39) |
|
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,652,864 (GRCm39) |
D62G |
possibly damaging |
Het |
| Serpina3m |
A |
T |
12: 104,357,726 (GRCm39) |
I217L |
probably benign |
Het |
| Supt16 |
T |
C |
14: 52,409,505 (GRCm39) |
R802G |
possibly damaging |
Het |
| Sypl2 |
A |
T |
3: 108,124,971 (GRCm39) |
M130K |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,184,386 (GRCm39) |
L503Q |
probably damaging |
Het |
| Ubald2 |
A |
G |
11: 116,325,443 (GRCm39) |
Q60R |
probably benign |
Het |
| Vav1 |
C |
T |
17: 57,618,860 (GRCm39) |
Q673* |
probably null |
Het |
| Vgll2 |
T |
C |
10: 51,904,072 (GRCm39) |
S312P |
probably benign |
Het |
| Vmn1r191 |
C |
T |
13: 22,362,864 (GRCm39) |
A297T |
probably benign |
Het |
| Vmn1r7 |
T |
A |
6: 57,001,418 (GRCm39) |
I281F |
possibly damaging |
Het |
| Vmn2r108 |
T |
C |
17: 20,701,410 (GRCm39) |
Y30C |
probably damaging |
Het |
| Vmn2r16 |
A |
G |
5: 109,511,650 (GRCm39) |
N619S |
probably damaging |
Het |
| Vstm5 |
A |
G |
9: 15,150,549 (GRCm39) |
|
probably benign |
Het |
| Zfp7 |
A |
G |
15: 76,775,919 (GRCm39) |
I654V |
possibly damaging |
Het |
| Zmat2 |
A |
G |
18: 36,929,627 (GRCm39) |
N129S |
probably null |
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 |
|
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'- ACAAATGGTCCCAAAGTTCAGG -3'
(R):5'- CATGGACTCATTTGCCTTTGTGAG -3'
Sequencing Primer
(F):5'- GTCCCAAAGTTCAGGAGTTAAAGCC -3'
(R):5'- TGTTCAGGCACATGTGACAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation