Incidental Mutation 'R3052:Mfsd2a'
ID |
264984 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfsd2a
|
Ensembl Gene |
ENSMUSG00000028655 |
Gene Name |
MFSD2 lysolipid transporter A, lysophospholipid |
Synonyms |
1700018O18Rik, Mfsd2, major facilitator superfamily domain containing 2A |
MMRRC Submission |
040561-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.305)
|
Stock # |
R3052 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
122840643-122854981 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122845635 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 172
(L172P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030408]
[ENSMUST00000127047]
|
AlphaFold |
Q9DA75 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030408
AA Change: L172P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030408 Gene: ENSMUSG00000028655 AA Change: L172P
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
low complexity region
|
27 |
39 |
N/A |
INTRINSIC |
Pfam:MFS_2
|
44 |
500 |
1.7e-96 |
PFAM |
Pfam:MFS_1
|
57 |
450 |
9.3e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127047
|
SMART Domains |
Protein: ENSMUSP00000116782 Gene: ENSMUSG00000028655
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
Pfam:MFS_2
|
42 |
106 |
2.7e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138964
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152308
|
Meta Mutation Damage Score |
0.9297 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
Validation Efficiency |
100% (38/38) |
MGI Phenotype |
PHENOTYPE: Homozygotes for a null allele show partial postnatal lethality, reduced body weight, ataxia, and alterations in lipid metabolism and photoreceptor cell development. Homozygotes for a different null allele show a leaky blood-brain barrier and increased CNS-endothelial-cell vesicular transcytosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl1 |
G |
A |
8: 46,974,374 (GRCm39) |
V330I |
probably benign |
Het |
Adcy5 |
T |
C |
16: 35,124,086 (GRCm39) |
L1255P |
probably damaging |
Het |
Ampd2 |
C |
T |
3: 107,993,803 (GRCm39) |
|
probably benign |
Het |
Asb18 |
T |
A |
1: 89,920,707 (GRCm39) |
H149L |
probably damaging |
Het |
Atp8b1 |
T |
C |
18: 64,686,179 (GRCm39) |
E668G |
probably benign |
Het |
Axdnd1 |
T |
C |
1: 156,169,440 (GRCm39) |
T809A |
probably damaging |
Het |
B430306N03Rik |
T |
C |
17: 48,623,938 (GRCm39) |
S80P |
probably damaging |
Het |
Banp |
G |
A |
8: 122,732,426 (GRCm39) |
|
probably null |
Het |
Capn2 |
G |
A |
1: 182,315,337 (GRCm39) |
T306M |
probably benign |
Het |
Ccpg1 |
A |
T |
9: 72,913,150 (GRCm39) |
S229C |
probably damaging |
Het |
Cep250 |
G |
T |
2: 155,832,968 (GRCm39) |
S1630I |
probably damaging |
Het |
Ces1g |
C |
A |
8: 94,061,676 (GRCm39) |
V77L |
possibly damaging |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,729,852 (GRCm39) |
H1211L |
possibly damaging |
Het |
Cyp2a5 |
A |
G |
7: 26,542,410 (GRCm39) |
I471V |
possibly damaging |
Het |
Gm10384 |
A |
G |
15: 36,871,996 (GRCm39) |
|
noncoding transcript |
Het |
Gm973 |
T |
C |
1: 59,672,299 (GRCm39) |
|
probably benign |
Het |
Ift88 |
C |
T |
14: 57,668,025 (GRCm39) |
P9S |
probably damaging |
Het |
Nav3 |
T |
A |
10: 109,739,613 (GRCm39) |
I119F |
probably damaging |
Het |
Nbeal2 |
T |
C |
9: 110,462,153 (GRCm39) |
E1428G |
possibly damaging |
Het |
Or12e7 |
C |
A |
2: 87,288,247 (GRCm39) |
T246K |
probably damaging |
Het |
Phf13 |
T |
C |
4: 152,076,820 (GRCm39) |
D124G |
possibly damaging |
Het |
Ppp3ca |
T |
G |
3: 136,503,605 (GRCm39) |
S59R |
probably benign |
Het |
Rsu1 |
A |
G |
2: 13,174,946 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
C |
18: 89,033,370 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
Sc5d |
G |
T |
9: 42,166,866 (GRCm39) |
N224K |
probably damaging |
Het |
Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
Tbc1d21 |
T |
A |
9: 58,270,352 (GRCm39) |
D141V |
probably damaging |
Het |
Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
Ugt3a1 |
G |
T |
15: 9,365,374 (GRCm39) |
W329L |
probably damaging |
Het |
Unk |
T |
C |
11: 115,940,949 (GRCm39) |
Y237H |
probably benign |
Het |
Vcam1 |
A |
C |
3: 115,918,079 (GRCm39) |
|
probably null |
Het |
Xpo6 |
T |
C |
7: 125,703,893 (GRCm39) |
N1086D |
probably damaging |
Het |
Zc3h12c |
A |
T |
9: 52,055,356 (GRCm39) |
L132Q |
possibly damaging |
Het |
|
Other mutations in Mfsd2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01631:Mfsd2a
|
APN |
4 |
122,843,100 (GRCm39) |
missense |
probably benign |
0.32 |
IGL02756:Mfsd2a
|
APN |
4 |
122,842,332 (GRCm39) |
missense |
probably benign |
0.30 |
azure
|
UTSW |
4 |
122,845,814 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0355:Mfsd2a
|
UTSW |
4 |
122,845,632 (GRCm39) |
missense |
possibly damaging |
0.64 |
R0394:Mfsd2a
|
UTSW |
4 |
122,843,961 (GRCm39) |
missense |
probably benign |
0.26 |
R2002:Mfsd2a
|
UTSW |
4 |
122,850,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R2516:Mfsd2a
|
UTSW |
4 |
122,844,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R2943:Mfsd2a
|
UTSW |
4 |
122,842,382 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4811:Mfsd2a
|
UTSW |
4 |
122,853,175 (GRCm39) |
missense |
probably benign |
0.28 |
R4977:Mfsd2a
|
UTSW |
4 |
122,844,302 (GRCm39) |
missense |
probably benign |
|
R5030:Mfsd2a
|
UTSW |
4 |
122,843,949 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5231:Mfsd2a
|
UTSW |
4 |
122,853,094 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5735:Mfsd2a
|
UTSW |
4 |
122,843,120 (GRCm39) |
missense |
probably damaging |
0.98 |
R6173:Mfsd2a
|
UTSW |
4 |
122,845,039 (GRCm39) |
missense |
probably benign |
|
R6321:Mfsd2a
|
UTSW |
4 |
122,843,165 (GRCm39) |
missense |
probably benign |
0.06 |
R6433:Mfsd2a
|
UTSW |
4 |
122,844,250 (GRCm39) |
missense |
probably benign |
0.01 |
R6736:Mfsd2a
|
UTSW |
4 |
122,845,054 (GRCm39) |
missense |
probably benign |
|
R6793:Mfsd2a
|
UTSW |
4 |
122,844,498 (GRCm39) |
missense |
probably benign |
0.02 |
R7073:Mfsd2a
|
UTSW |
4 |
122,845,088 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7255:Mfsd2a
|
UTSW |
4 |
122,845,814 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7382:Mfsd2a
|
UTSW |
4 |
122,845,916 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7868:Mfsd2a
|
UTSW |
4 |
122,850,648 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8095:Mfsd2a
|
UTSW |
4 |
122,845,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R8136:Mfsd2a
|
UTSW |
4 |
122,845,660 (GRCm39) |
missense |
probably benign |
0.27 |
R8140:Mfsd2a
|
UTSW |
4 |
122,843,091 (GRCm39) |
missense |
probably benign |
0.00 |
R8832:Mfsd2a
|
UTSW |
4 |
122,843,102 (GRCm39) |
missense |
probably benign |
0.01 |
R8842:Mfsd2a
|
UTSW |
4 |
122,845,623 (GRCm39) |
missense |
probably damaging |
0.98 |
R9048:Mfsd2a
|
UTSW |
4 |
122,854,768 (GRCm39) |
missense |
probably benign |
|
R9084:Mfsd2a
|
UTSW |
4 |
122,843,994 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Mfsd2a
|
UTSW |
4 |
122,853,104 (GRCm39) |
missense |
possibly damaging |
0.71 |
Z1176:Mfsd2a
|
UTSW |
4 |
122,845,632 (GRCm39) |
missense |
probably benign |
0.44 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGCAGTTGACATTTCAGCC -3'
(R):5'- TTTGAGACACTGGTCACGG -3'
Sequencing Primer
(F):5'- TGCTTGACAGACACAAGGCTCTAG -3'
(R):5'- CATGCATCTAACCAGCTG -3'
|
Posted On |
2015-02-05 |