Incidental Mutation 'R3919:Mrgprb1'
| ID |
306894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrgprb1
|
| Ensembl Gene |
ENSMUSG00000070547 |
| Gene Name |
MAS-related GPR, member B1 |
| Synonyms |
MrgB1 |
| MMRRC Submission |
040817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R3919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
48093861-48106090 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48097829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 28
(K28E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094384]
[ENSMUST00000188095]
[ENSMUST00000188918]
|
| AlphaFold |
Q3UG61 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094384
AA Change: K28E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000091946
Gene: ENSMUSG00000070547
AA Change: K28E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
50 |
227 |
5.5e-11 |
PFAM |
|
Pfam:7tm_1
|
59 |
290 |
4.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188095
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188918
AA Change: K28E
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000140432
Gene: ENSMUSG00000070547
AA Change: K28E
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l9ha_
|
23 |
84 |
3e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028J19Rik |
G |
T |
7: 43,879,852 (GRCm39) |
|
probably benign |
Het |
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Abcb5 |
A |
G |
12: 118,854,353 (GRCm39) |
M854T |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,011,764 (GRCm39) |
Y822* |
probably null |
Het |
| Apoe |
T |
C |
7: 19,430,472 (GRCm39) |
T257A |
probably benign |
Het |
| Atm |
C |
A |
9: 53,403,578 (GRCm39) |
A1365S |
probably benign |
Het |
| Bmp2k |
T |
C |
5: 97,222,599 (GRCm39) |
S674P |
unknown |
Het |
| Cd177 |
T |
C |
7: 24,443,858 (GRCm39) |
S747G |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,298,460 (GRCm39) |
F91L |
possibly damaging |
Het |
| Chil4 |
A |
T |
3: 106,109,848 (GRCm39) |
N388K |
probably benign |
Het |
| Dnah3 |
G |
A |
7: 119,550,303 (GRCm39) |
L3328F |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Ercc5 |
C |
A |
1: 44,201,091 (GRCm39) |
T217K |
probably damaging |
Het |
| Esyt1 |
T |
A |
10: 128,356,905 (GRCm39) |
|
probably benign |
Het |
| Ifih1 |
C |
A |
2: 62,453,845 (GRCm39) |
|
probably benign |
Het |
| Ints12 |
A |
T |
3: 132,806,444 (GRCm39) |
T124S |
probably benign |
Het |
| Kdm5d |
T |
C |
Y: 939,914 (GRCm39) |
L1022P |
probably damaging |
Het |
| Lama2 |
T |
A |
10: 26,994,501 (GRCm39) |
N1803Y |
probably damaging |
Het |
| Lpcat2 |
C |
T |
8: 93,640,902 (GRCm39) |
T449I |
probably damaging |
Het |
| Ly6c2 |
A |
T |
15: 74,980,613 (GRCm39) |
|
probably null |
Het |
| Mast3 |
T |
C |
8: 71,232,066 (GRCm39) |
K1304E |
probably benign |
Het |
| Mdm4 |
T |
C |
1: 132,922,306 (GRCm39) |
K279E |
possibly damaging |
Het |
| Mest |
G |
A |
6: 30,742,749 (GRCm39) |
S132N |
probably benign |
Het |
| Mras |
T |
A |
9: 99,293,473 (GRCm39) |
I56F |
probably damaging |
Het |
| Myrip |
G |
A |
9: 120,261,695 (GRCm39) |
G436D |
probably damaging |
Het |
| Nr2e3 |
T |
A |
9: 59,850,723 (GRCm39) |
T379S |
probably damaging |
Het |
| Or8k27 |
A |
G |
2: 86,275,762 (GRCm39) |
V188A |
probably benign |
Het |
| Plscr3 |
T |
A |
11: 69,738,236 (GRCm39) |
|
probably benign |
Het |
| Pola1 |
C |
A |
X: 92,505,078 (GRCm39) |
R1313L |
probably benign |
Het |
| Ppt2 |
T |
C |
17: 34,841,897 (GRCm39) |
N213S |
probably damaging |
Het |
| Prelid2 |
T |
A |
18: 42,070,740 (GRCm39) |
D31V |
possibly damaging |
Het |
| Psmb9 |
C |
T |
17: 34,402,588 (GRCm39) |
|
probably null |
Het |
| Rec8 |
A |
G |
14: 55,858,716 (GRCm39) |
T164A |
probably benign |
Het |
| Rnf103 |
G |
A |
6: 71,487,331 (GRCm39) |
R654Q |
probably benign |
Het |
| Setdb2 |
T |
A |
14: 59,656,616 (GRCm39) |
I250F |
probably damaging |
Het |
| Slurp1 |
A |
T |
15: 74,598,659 (GRCm39) |
*111K |
probably null |
Het |
| Sphkap |
T |
G |
1: 83,254,179 (GRCm39) |
E903A |
probably damaging |
Het |
| Sst |
T |
C |
16: 23,708,591 (GRCm39) |
D80G |
possibly damaging |
Het |
| Stat4 |
C |
T |
1: 52,135,981 (GRCm39) |
T430I |
possibly damaging |
Het |
| Tmprss4 |
C |
T |
9: 45,091,964 (GRCm39) |
V174M |
probably benign |
Het |
| Trim6 |
A |
T |
7: 103,882,057 (GRCm39) |
Y436F |
probably damaging |
Het |
| Ttc28 |
C |
A |
5: 111,433,245 (GRCm39) |
A2093E |
possibly damaging |
Het |
| Vav3 |
A |
G |
3: 109,434,854 (GRCm39) |
N462D |
possibly damaging |
Het |
| Whrn |
G |
T |
4: 63,413,421 (GRCm39) |
S17* |
probably null |
Het |
| Zfhx4 |
T |
A |
3: 5,464,175 (GRCm39) |
S1469R |
possibly damaging |
Het |
| Zfp108 |
T |
A |
7: 23,960,257 (GRCm39) |
C283S |
probably damaging |
Het |
|
| Other mutations in Mrgprb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00540:Mrgprb1
|
APN |
7 |
48,097,291 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01141:Mrgprb1
|
APN |
7 |
48,097,775 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL01393:Mrgprb1
|
APN |
7 |
48,097,754 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02430:Mrgprb1
|
APN |
7 |
48,097,409 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02485:Mrgprb1
|
APN |
7 |
48,097,465 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0026:Mrgprb1
|
UTSW |
7 |
48,096,952 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0051:Mrgprb1
|
UTSW |
7 |
48,096,962 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0789:Mrgprb1
|
UTSW |
7 |
48,105,932 (GRCm39) |
splice site |
probably benign |
|
|
R1223:Mrgprb1
|
UTSW |
7 |
48,097,435 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1327:Mrgprb1
|
UTSW |
7 |
48,097,177 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1456:Mrgprb1
|
UTSW |
7 |
48,097,777 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1561:Mrgprb1
|
UTSW |
7 |
48,096,873 (GRCm39) |
splice site |
probably null |
|
|
R1567:Mrgprb1
|
UTSW |
7 |
48,097,201 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2030:Mrgprb1
|
UTSW |
7 |
48,097,076 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2165:Mrgprb1
|
UTSW |
7 |
48,097,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2885:Mrgprb1
|
UTSW |
7 |
48,097,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3108:Mrgprb1
|
UTSW |
7 |
48,097,076 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4021:Mrgprb1
|
UTSW |
7 |
48,096,871 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4613:Mrgprb1
|
UTSW |
7 |
48,097,456 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4809:Mrgprb1
|
UTSW |
7 |
48,097,739 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5249:Mrgprb1
|
UTSW |
7 |
48,097,225 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5425:Mrgprb1
|
UTSW |
7 |
48,097,719 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5555:Mrgprb1
|
UTSW |
7 |
48,097,523 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5595:Mrgprb1
|
UTSW |
7 |
48,097,432 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5982:Mrgprb1
|
UTSW |
7 |
48,097,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6746:Mrgprb1
|
UTSW |
7 |
48,097,645 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7066:Mrgprb1
|
UTSW |
7 |
48,097,424 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7141:Mrgprb1
|
UTSW |
7 |
48,097,435 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7633:Mrgprb1
|
UTSW |
7 |
48,097,331 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8072:Mrgprb1
|
UTSW |
7 |
48,097,895 (GRCm39) |
nonsense |
probably null |
|
|
R8080:Mrgprb1
|
UTSW |
7 |
48,096,658 (GRCm39) |
splice site |
probably null |
|
|
R8112:Mrgprb1
|
UTSW |
7 |
48,097,682 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8493:Mrgprb1
|
UTSW |
7 |
48,097,321 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8817:Mrgprb1
|
UTSW |
7 |
48,097,070 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9135:Mrgprb1
|
UTSW |
7 |
48,097,046 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAGGATGCTCAGACCACTAAG -3'
(R):5'- ACCAGTCTCCCTATTTTATGAACCTAG -3'
Sequencing Primer
(F):5'- CACTAAGGTAAGCAATGTTTAACACC -3'
(R):5'- GCAGAACTGAGATTGCAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation