Incidental Mutation 'R6485:Mrgprb5'
| ID |
517298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrgprb5
|
| Ensembl Gene |
ENSMUSG00000070551 |
| Gene Name |
MAS-related GPR, member B5 |
| Synonyms |
MrgB5 |
| MMRRC Submission |
044617-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R6485 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
47817765-47818733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47818525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 70
(N70S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094389]
|
| AlphaFold |
Q91ZB9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094389
AA Change: N70S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091953
Gene: ENSMUSG00000070551
AA Change: N70S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srx
|
38 |
217 |
1.4e-8 |
PFAM |
|
Pfam:7tm_1
|
47 |
210 |
1.7e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
C |
A |
7: 120,026,390 (GRCm39) |
Y117* |
probably null |
Het |
| Acot5 |
A |
T |
12: 84,122,258 (GRCm39) |
R281W |
probably damaging |
Het |
| Adamts20 |
T |
C |
15: 94,241,852 (GRCm39) |
T719A |
probably benign |
Het |
| Arhgap33 |
T |
C |
7: 30,223,429 (GRCm39) |
T867A |
probably benign |
Het |
| Bcl2a1c |
T |
C |
9: 114,159,278 (GRCm39) |
Y19H |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,974,459 (GRCm39) |
I2285T |
possibly damaging |
Het |
| Cacna2d1 |
A |
G |
5: 16,559,655 (GRCm39) |
Y755C |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,396,474 (GRCm39) |
T816A |
probably benign |
Het |
| Clasrp |
C |
A |
7: 19,320,294 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,954,069 (GRCm39) |
|
probably null |
Het |
| Cpd |
T |
C |
11: 76,699,533 (GRCm39) |
|
probably null |
Het |
| Crispld2 |
A |
G |
8: 120,756,048 (GRCm39) |
D339G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,333,610 (GRCm39) |
D7046G |
probably damaging |
Het |
| Erbin |
G |
T |
13: 104,004,621 (GRCm39) |
Q136K |
probably damaging |
Het |
| Exph5 |
G |
A |
9: 53,287,991 (GRCm39) |
E1691K |
possibly damaging |
Het |
| Fads6 |
A |
G |
11: 115,176,264 (GRCm39) |
F187S |
probably benign |
Het |
| Foxg1 |
A |
T |
12: 49,431,863 (GRCm39) |
I199F |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,262,894 (GRCm39) |
D640G |
probably benign |
Het |
| Gba2 |
A |
C |
4: 43,574,118 (GRCm39) |
Y112D |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,916,528 (GRCm39) |
I323T |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gria4 |
T |
A |
9: 4,464,249 (GRCm39) |
Y571F |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,196,373 (GRCm39) |
T485A |
probably benign |
Het |
| Lonrf1 |
A |
G |
8: 36,696,288 (GRCm39) |
|
probably null |
Het |
| Muc2 |
T |
A |
7: 141,300,473 (GRCm39) |
|
probably benign |
Het |
| Nol4 |
T |
C |
18: 22,903,850 (GRCm39) |
D375G |
probably damaging |
Het |
| Or2b2 |
A |
G |
13: 21,887,600 (GRCm39) |
Q143R |
probably benign |
Het |
| Pcnt |
G |
T |
10: 76,225,164 (GRCm39) |
S1780* |
probably null |
Het |
| Pdgfra |
A |
T |
5: 75,335,735 (GRCm39) |
|
probably null |
Het |
| Pgd |
A |
T |
4: 149,240,876 (GRCm39) |
|
probably null |
Het |
| Pla2g6 |
T |
C |
15: 79,191,572 (GRCm39) |
I279V |
probably benign |
Het |
| Ptpn21 |
A |
T |
12: 98,665,131 (GRCm39) |
C297* |
probably null |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
T |
C |
10: 85,793,508 (GRCm39) |
I22V |
probably benign |
Het |
| Slc25a30 |
G |
T |
14: 76,012,447 (GRCm39) |
A67E |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,506,612 (GRCm39) |
V605A |
possibly damaging |
Het |
| Ush1c |
A |
T |
7: 45,858,534 (GRCm39) |
S585T |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,657,414 (GRCm39) |
D1785G |
probably damaging |
Het |
| Zic5 |
T |
A |
14: 122,697,052 (GRCm39) |
Y521F |
unknown |
Het |
|
| Other mutations in Mrgprb5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01516:Mrgprb5
|
APN |
7 |
47,818,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01662:Mrgprb5
|
APN |
7 |
47,818,172 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01752:Mrgprb5
|
APN |
7 |
47,818,415 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02117:Mrgprb5
|
APN |
7 |
47,818,742 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02866:Mrgprb5
|
APN |
7 |
47,817,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03382:Mrgprb5
|
APN |
7 |
47,818,442 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0545:Mrgprb5
|
UTSW |
7 |
47,818,633 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1389:Mrgprb5
|
UTSW |
7 |
47,818,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1939:Mrgprb5
|
UTSW |
7 |
47,818,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2277:Mrgprb5
|
UTSW |
7 |
47,818,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2367:Mrgprb5
|
UTSW |
7 |
47,818,347 (GRCm39) |
nonsense |
probably null |
|
|
R2912:Mrgprb5
|
UTSW |
7 |
47,817,815 (GRCm39) |
missense |
probably benign |
|
|
R2968:Mrgprb5
|
UTSW |
7 |
47,818,317 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2969:Mrgprb5
|
UTSW |
7 |
47,818,317 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2970:Mrgprb5
|
UTSW |
7 |
47,818,317 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3499:Mrgprb5
|
UTSW |
7 |
47,818,661 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3828:Mrgprb5
|
UTSW |
7 |
47,817,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4590:Mrgprb5
|
UTSW |
7 |
47,817,809 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4719:Mrgprb5
|
UTSW |
7 |
47,818,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5263:Mrgprb5
|
UTSW |
7 |
47,817,937 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5264:Mrgprb5
|
UTSW |
7 |
47,817,796 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5644:Mrgprb5
|
UTSW |
7 |
47,817,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6713:Mrgprb5
|
UTSW |
7 |
47,818,537 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7112:Mrgprb5
|
UTSW |
7 |
47,818,655 (GRCm39) |
missense |
probably benign |
|
|
R7176:Mrgprb5
|
UTSW |
7 |
47,818,059 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7446:Mrgprb5
|
UTSW |
7 |
47,818,252 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7640:Mrgprb5
|
UTSW |
7 |
47,818,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7831:Mrgprb5
|
UTSW |
7 |
47,817,997 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9041:Mrgprb5
|
UTSW |
7 |
47,818,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9314:Mrgprb5
|
UTSW |
7 |
47,818,174 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATACCAGATGGGCCACATAAC -3'
(R):5'- AACATGGGTCTAACCACTCCAG -3'
Sequencing Primer
(F):5'- CAGATAGAGAGCGCTCAACACTG -3'
(R):5'- GTCTAACCACTCCAGCCTGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation