Incidental Mutation 'R4501:Mmd2'
| ID |
331806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmd2
|
| Ensembl Gene |
ENSMUSG00000039533 |
| Gene Name |
monocyte to macrophage differentiation-associated 2 |
| Synonyms |
|
| MMRRC Submission |
041753-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4501 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
142549229-142594886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142560965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 90
(V90A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037048]
|
| AlphaFold |
Q8R189 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037048
AA Change: V90A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000039357
Gene: ENSMUSG00000039533
AA Change: V90A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
33 |
228 |
5.2e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PAQR (progestin and adipoQ receptor) family. Members of this family are evolutionarily conserved with significant sequence identity to bacterial hemolysin-like proteins and are defined by a set of seven transmembrane domains. The protein encoded by this gene localizes to the Golgi apparatus to modulate Ras signaling. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
A |
G |
14: 54,924,044 (GRCm39) |
V65A |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,428,753 (GRCm39) |
L956S |
probably damaging |
Het |
| Atp2a1 |
G |
A |
7: 126,052,555 (GRCm39) |
T388I |
probably benign |
Het |
| AU018091 |
A |
G |
7: 3,208,919 (GRCm39) |
V389A |
probably benign |
Het |
| Cdh2 |
A |
G |
18: 16,762,642 (GRCm39) |
V434A |
possibly damaging |
Het |
| Dennd4a |
G |
A |
9: 64,817,405 (GRCm39) |
D1680N |
possibly damaging |
Het |
| Dnah2 |
T |
A |
11: 69,368,485 (GRCm39) |
M1717L |
probably benign |
Het |
| Dusp6 |
T |
A |
10: 99,100,457 (GRCm39) |
L151Q |
probably benign |
Het |
| Hc |
A |
T |
2: 34,887,488 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,509,417 (GRCm39) |
S3644T |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,480,718 (GRCm39) |
I761T |
probably damaging |
Het |
| Ncf2 |
C |
G |
1: 152,710,784 (GRCm39) |
Q432E |
probably benign |
Het |
| Nxn |
T |
C |
11: 76,165,438 (GRCm39) |
E172G |
probably damaging |
Het |
| P2ry12 |
A |
G |
3: 59,125,078 (GRCm39) |
I199T |
probably damaging |
Het |
| Phldb3 |
A |
G |
7: 24,311,986 (GRCm39) |
E100G |
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,021,356 (GRCm39) |
|
probably benign |
Het |
| Pldi |
G |
T |
10: 60,764,188 (GRCm39) |
|
noncoding transcript |
Het |
| Plk5 |
T |
C |
10: 80,195,305 (GRCm39) |
C208R |
probably benign |
Het |
| Ptpn12 |
G |
T |
5: 21,224,278 (GRCm39) |
A105E |
probably damaging |
Het |
| Pusl1 |
T |
C |
4: 155,973,999 (GRCm39) |
T252A |
probably benign |
Het |
| Rpl13a |
T |
C |
7: 44,775,564 (GRCm39) |
H95R |
probably benign |
Het |
| Sh3d21 |
GAATCTCCTGGGAAAATC |
GAATC |
4: 126,056,652 (GRCm39) |
|
probably null |
Het |
| Slc30a4 |
A |
G |
2: 122,527,136 (GRCm39) |
I370T |
probably benign |
Het |
| Taf1c |
A |
G |
8: 120,326,168 (GRCm39) |
F565L |
probably damaging |
Het |
| Tdrd9 |
A |
G |
12: 112,009,243 (GRCm39) |
K1050E |
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,613,324 (GRCm39) |
L494Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,624,991 (GRCm39) |
I13450L |
possibly damaging |
Het |
| Usp34 |
C |
A |
11: 23,351,529 (GRCm39) |
P1439Q |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,318 (GRCm39) |
N143D |
probably benign |
Het |
| Zbtb44 |
G |
A |
9: 30,965,462 (GRCm39) |
V291I |
probably damaging |
Het |
|
| Other mutations in Mmd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01369:Mmd2
|
APN |
5 |
142,560,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02221:Mmd2
|
APN |
5 |
142,555,212 (GRCm39) |
splice site |
probably benign |
|
|
IGL02432:Mmd2
|
APN |
5 |
142,561,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02964:Mmd2
|
APN |
5 |
142,555,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03333:Mmd2
|
APN |
5 |
142,553,693 (GRCm39) |
splice site |
probably benign |
|
|
R0615:Mmd2
|
UTSW |
5 |
142,550,668 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1717:Mmd2
|
UTSW |
5 |
142,561,105 (GRCm39) |
splice site |
probably benign |
|
|
R2034:Mmd2
|
UTSW |
5 |
142,560,939 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3981:Mmd2
|
UTSW |
5 |
142,550,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3982:Mmd2
|
UTSW |
5 |
142,550,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6103:Mmd2
|
UTSW |
5 |
142,553,618 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6521:Mmd2
|
UTSW |
5 |
142,560,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7222:Mmd2
|
UTSW |
5 |
142,553,682 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7244:Mmd2
|
UTSW |
5 |
142,550,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7579:Mmd2
|
UTSW |
5 |
142,594,361 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R7997:Mmd2
|
UTSW |
5 |
142,560,615 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9188:Mmd2
|
UTSW |
5 |
142,560,957 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9223:Mmd2
|
UTSW |
5 |
142,553,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9394:Mmd2
|
UTSW |
5 |
142,555,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Mmd2
|
UTSW |
5 |
142,560,999 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCTCTACCATCCTAGGG -3'
(R):5'- TAAAGGCTGGCCGTGATCTG -3'
Sequencing Primer
(F):5'- AAGCAGGTCACAGCCTCTG -3'
(R):5'- GCTGGCCGTGATCTGTCTTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation