Incidental Mutation 'R3982:Mmd2'
| ID |
345306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmd2
|
| Ensembl Gene |
ENSMUSG00000039533 |
| Gene Name |
monocyte to macrophage differentiation-associated 2 |
| Synonyms |
|
| MMRRC Submission |
041608-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3982 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
142549229-142594886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 142550554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 228
(Y228C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037048]
|
| AlphaFold |
Q8R189 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037048
AA Change: Y228C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039357
Gene: ENSMUSG00000039533
AA Change: Y228C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
33 |
228 |
5.2e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.5518 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (40/41) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,547,180 (GRCm39) |
|
probably null |
Het |
| Adgrg6 |
T |
C |
10: 14,324,589 (GRCm39) |
N445S |
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,842,373 (GRCm39) |
T902A |
possibly damaging |
Het |
| Atf4 |
T |
C |
15: 80,141,069 (GRCm39) |
V153A |
probably benign |
Het |
| Bsn |
T |
C |
9: 107,984,365 (GRCm39) |
T3230A |
unknown |
Het |
| Cadps2 |
A |
G |
6: 23,263,530 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,461,070 (GRCm39) |
T194S |
probably benign |
Het |
| Cth |
A |
T |
3: 157,619,334 (GRCm39) |
L163* |
probably null |
Het |
| Flnc |
G |
A |
6: 29,442,940 (GRCm39) |
V492M |
probably damaging |
Het |
| Frmd6 |
T |
C |
12: 70,934,608 (GRCm39) |
L269P |
probably damaging |
Het |
| Gpr62 |
G |
A |
9: 106,342,085 (GRCm39) |
A281V |
probably benign |
Het |
| Hapln1 |
T |
A |
13: 89,753,560 (GRCm39) |
F242Y |
probably benign |
Het |
| Ighv1-39 |
A |
T |
12: 114,878,251 (GRCm39) |
S107T |
possibly damaging |
Het |
| Itga8 |
A |
G |
2: 12,305,774 (GRCm39) |
V72A |
possibly damaging |
Het |
| Kcp |
A |
T |
6: 29,484,636 (GRCm39) |
L1314Q |
probably damaging |
Het |
| Klre1 |
T |
A |
6: 129,560,101 (GRCm39) |
C124* |
probably null |
Het |
| Lrrk2 |
T |
A |
15: 91,593,487 (GRCm39) |
M482K |
probably benign |
Het |
| Man2b2 |
T |
C |
5: 36,971,164 (GRCm39) |
N734S |
probably benign |
Het |
| Map3k20 |
C |
T |
2: 72,268,571 (GRCm39) |
T526I |
probably damaging |
Het |
| Mdga1 |
C |
A |
17: 30,150,238 (GRCm39) |
A125S |
unknown |
Het |
| Mme |
T |
A |
3: 63,235,485 (GRCm39) |
Y178N |
probably damaging |
Het |
| Nifk |
T |
A |
1: 118,257,282 (GRCm39) |
S138R |
possibly damaging |
Het |
| Nlrp4b |
T |
C |
7: 10,448,358 (GRCm39) |
V187A |
possibly damaging |
Het |
| Palmd |
T |
C |
3: 116,717,472 (GRCm39) |
T342A |
probably benign |
Het |
| Pigo |
A |
T |
4: 43,023,482 (GRCm39) |
S231T |
probably benign |
Het |
| Pik3cb |
G |
A |
9: 98,928,654 (GRCm39) |
T867M |
probably benign |
Het |
| Plag1 |
A |
T |
4: 3,904,055 (GRCm39) |
S379T |
probably damaging |
Het |
| Polg2 |
G |
A |
11: 106,670,028 (GRCm39) |
R81* |
probably null |
Het |
| Prpf4b |
C |
T |
13: 35,068,196 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,379,257 (GRCm39) |
I1981F |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,668,889 (GRCm39) |
V1137A |
probably benign |
Het |
| Usp24 |
G |
A |
4: 106,245,080 (GRCm39) |
E1307K |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,948 (GRCm39) |
M807K |
probably damaging |
Het |
| Wee2 |
A |
T |
6: 40,432,175 (GRCm39) |
N248I |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGGATTCAAAAGGTGGTC -3'
(R):5'- GAATGACTGCTCTCCCTCTG -3'
Sequencing Primer
(F):5'- CTGAAAGGTTCCTTAGACCCATG -3'
(R):5'- GAATGACTGCTCTCCCTCTGACTTG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation