Incidental Mutation 'R5231:Mfsd2a'
ID |
398507 |
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 |
042803-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.305)
|
Stock # |
R5231 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
122840643-122854981 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122853094 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 64
(F64S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116782
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030408]
[ENSMUST00000127047]
|
AlphaFold |
Q9DA75 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030408
AA Change: F65S
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000030408 Gene: ENSMUSG00000028655 AA Change: F65S
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 |
possibly damaging
Transcript: ENSMUST00000127047
AA Change: F64S
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000116782 Gene: ENSMUSG00000028655 AA Change: F64S
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: ENSMUST00000135313
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138964
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152308
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
Validation Efficiency |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adat3 |
T |
C |
10: 80,442,260 (GRCm39) |
S33P |
possibly damaging |
Het |
Bche |
G |
A |
3: 73,608,194 (GRCm39) |
P411S |
probably benign |
Het |
Chil3 |
A |
G |
3: 106,063,045 (GRCm39) |
S182P |
probably damaging |
Het |
Col6a4 |
T |
C |
9: 105,902,730 (GRCm39) |
E1653G |
probably damaging |
Het |
Csk |
G |
T |
9: 57,537,661 (GRCm39) |
H84Q |
probably damaging |
Het |
Csmd2 |
A |
G |
4: 128,439,842 (GRCm39) |
T3099A |
probably benign |
Het |
Deup1 |
G |
T |
9: 15,486,495 (GRCm39) |
A395E |
probably damaging |
Het |
Frem2 |
T |
C |
3: 53,429,716 (GRCm39) |
Y2778C |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,894,474 (GRCm39) |
T2031A |
probably benign |
Het |
Ighv1-53 |
C |
A |
12: 115,122,225 (GRCm39) |
S50I |
probably benign |
Het |
Ighv1-62-3 |
A |
T |
12: 115,424,671 (GRCm39) |
M100K |
possibly damaging |
Het |
Igkv2-109 |
T |
A |
6: 68,279,429 (GRCm39) |
F3I |
probably benign |
Het |
Isl1 |
T |
C |
13: 116,438,193 (GRCm39) |
D296G |
probably benign |
Het |
Klk1b16 |
T |
A |
7: 43,786,771 (GRCm39) |
L10Q |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,520,471 (GRCm39) |
S1880T |
possibly damaging |
Het |
Lhcgr |
T |
A |
17: 89,063,039 (GRCm39) |
N211I |
probably damaging |
Het |
Ltb |
C |
T |
17: 35,414,802 (GRCm39) |
L201F |
probably damaging |
Het |
Mmp10 |
T |
C |
9: 7,502,501 (GRCm39) |
|
probably null |
Het |
Mycbp2 |
A |
C |
14: 103,583,650 (GRCm39) |
|
probably null |
Het |
Or1e34 |
C |
A |
11: 73,778,781 (GRCm39) |
C139F |
probably damaging |
Het |
Or52e2 |
A |
T |
7: 102,804,175 (GRCm39) |
F260I |
probably damaging |
Het |
Or5k17 |
T |
C |
16: 58,746,077 (GRCm39) |
I286V |
possibly damaging |
Het |
Or9i14 |
A |
T |
19: 13,792,711 (GRCm39) |
I81N |
probably damaging |
Het |
Peg10 |
C |
T |
6: 4,756,939 (GRCm39) |
|
probably benign |
Het |
Plscr1 |
C |
A |
9: 92,148,784 (GRCm39) |
P208H |
probably damaging |
Het |
Rhot1 |
T |
C |
11: 80,118,160 (GRCm39) |
|
probably null |
Het |
Rpl15-ps6 |
T |
C |
15: 52,341,440 (GRCm39) |
|
noncoding transcript |
Het |
Smarcc2 |
T |
C |
10: 128,297,221 (GRCm39) |
Y38H |
probably damaging |
Het |
Spata31e2 |
T |
A |
1: 26,723,032 (GRCm39) |
H716L |
possibly damaging |
Het |
Stat2 |
T |
C |
10: 128,117,111 (GRCm39) |
|
probably null |
Het |
Trip11 |
T |
C |
12: 101,851,860 (GRCm39) |
K735E |
probably damaging |
Het |
Ttll1 |
T |
A |
15: 83,373,667 (GRCm39) |
|
probably null |
Het |
Vmn2r37 |
C |
A |
7: 9,209,594 (GRCm39) |
L639F |
possibly damaging |
Het |
Vmn2r60 |
A |
T |
7: 41,786,448 (GRCm39) |
Q417L |
possibly damaging |
Het |
Vps8 |
A |
T |
16: 21,395,475 (GRCm39) |
D1255V |
probably damaging |
Het |
Zfp354b |
A |
C |
11: 50,813,917 (GRCm39) |
I336S |
probably benign |
Het |
Zfp747l1 |
T |
C |
7: 126,984,586 (GRCm39) |
Y172C |
probably 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 |
R3052:Mfsd2a
|
UTSW |
4 |
122,845,635 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- ATCCACTGTGACCCTGAGTG -3'
(R):5'- GAAGTGAGATTTCCCTAGGTGG -3'
Sequencing Primer
(F):5'- TGGCAGCCAAGGAATGTGTC -3'
(R):5'- GGCAAGGTAGAACTGTTCCTC -3'
|
Posted On |
2016-07-06 |