Incidental Mutation 'IGL02432:Mmd2'
| ID |
293165 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mmd2
|
| Ensembl Gene |
ENSMUSG00000039533 |
| Gene Name |
monocyte to macrophage differentiation-associated 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02432
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
142549229-142594886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 142561094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 47
(I47N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037048]
|
| AlphaFold |
Q8R189 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037048
AA Change: I47N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039357
Gene: ENSMUSG00000039533
AA Change: I47N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
33 |
228 |
5.2e-21 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
G |
A |
2: 151,314,481 (GRCm39) |
T399M |
probably benign |
Het |
| A830018L16Rik |
A |
T |
1: 11,818,303 (GRCm39) |
N321I |
probably damaging |
Het |
| Aimp1 |
T |
C |
3: 132,379,738 (GRCm39) |
T135A |
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,576,589 (GRCm39) |
M848T |
probably damaging |
Het |
| Cry2 |
T |
C |
2: 92,244,012 (GRCm39) |
D387G |
probably damaging |
Het |
| Daxx |
G |
A |
17: 34,131,311 (GRCm39) |
D413N |
probably benign |
Het |
| Gbp6 |
A |
T |
5: 105,422,228 (GRCm39) |
V492E |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,226,671 (GRCm39) |
M1358L |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,876,465 (GRCm39) |
D880E |
possibly damaging |
Het |
| Mroh2b |
G |
A |
15: 4,943,668 (GRCm39) |
M401I |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,088,668 (GRCm39) |
K963R |
probably benign |
Het |
| Otop2 |
A |
G |
11: 115,219,988 (GRCm39) |
H276R |
probably damaging |
Het |
| Pxn |
T |
A |
5: 115,683,805 (GRCm39) |
D79E |
probably damaging |
Het |
| Rho |
G |
A |
6: 115,909,146 (GRCm39) |
V61I |
probably damaging |
Het |
| Rtp1 |
A |
G |
16: 23,250,154 (GRCm39) |
Y173C |
probably damaging |
Het |
| Slc6a17 |
T |
C |
3: 107,400,493 (GRCm39) |
D212G |
possibly damaging |
Het |
| Stpg1 |
A |
G |
4: 135,235,321 (GRCm39) |
E54G |
probably damaging |
Het |
| Tas2r119 |
A |
G |
15: 32,177,853 (GRCm39) |
T140A |
probably benign |
Het |
| Traf3ip3 |
C |
T |
1: 192,866,884 (GRCm39) |
C316Y |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,371,101 (GRCm39) |
A517T |
probably damaging |
Het |
| Vmn1r30 |
T |
C |
6: 58,412,655 (GRCm39) |
N59S |
probably benign |
Het |
| Vmn2r4 |
C |
T |
3: 64,313,821 (GRCm39) |
V387M |
probably benign |
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 |
|
|
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 |
|
R4501:Mmd2
|
UTSW |
5 |
142,560,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation