Incidental Mutation 'R8158:Scarb1'
ID |
633357 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scarb1
|
Ensembl Gene |
ENSMUSG00000037936 |
Gene Name |
scavenger receptor class B, member 1 |
Synonyms |
Cd36l1, Srb1, Hdlq1, SRBI, D5Ertd460e, Chohd1, SR-BI, Cla-1, Chohd1, Hlb398 |
MMRRC Submission |
067584-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8158 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
125354151-125418158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 125380201 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 124
(D124G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083242
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086075]
[ENSMUST00000111390]
[ENSMUST00000137783]
|
AlphaFold |
Q61009 |
PDB Structure |
Molecular analysis of the interaction of the HDL-receptor SR-BI with the PDZ3 domain of its adaptor protein PDZK1 [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000086075
AA Change: D124G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000083242 Gene: ENSMUSG00000037936 AA Change: D124G
Domain | Start | End | E-Value | Type |
Pfam:CD36
|
16 |
463 |
6.4e-154 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111390
AA Change: D124G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000107021 Gene: ENSMUSG00000037936 AA Change: D124G
Domain | Start | End | E-Value | Type |
Pfam:CD36
|
14 |
465 |
4.7e-158 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137783
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a plasma membrane receptor for high density lipoprotein cholesterol (HDL). The encoded protein mediates cholesterol transfer to and from HDL. In addition, this protein is a receptor for hepatitis C virus glycoprotein E2. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] PHENOTYPE: Targeted mutations result in abnormal lipoprotein metablolism and, for one allele, reversible female infertility. An ENU mutant shows increased cholesterol levels. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl2 |
T |
A |
1: 156,469,639 (GRCm39) |
S968T |
probably benign |
Het |
Adcy8 |
T |
C |
15: 64,655,655 (GRCm39) |
D608G |
probably benign |
Het |
Adgb |
C |
T |
10: 10,254,478 (GRCm39) |
V1162M |
probably benign |
Het |
Agrn |
A |
G |
4: 156,258,346 (GRCm39) |
V1040A |
probably benign |
Het |
Amer3 |
A |
T |
1: 34,626,741 (GRCm39) |
T327S |
possibly damaging |
Het |
Apaf1 |
C |
T |
10: 90,895,520 (GRCm39) |
C426Y |
probably benign |
Het |
Bsn |
T |
C |
9: 107,987,232 (GRCm39) |
D2840G |
unknown |
Het |
Camsap1 |
A |
T |
2: 25,834,440 (GRCm39) |
C406* |
probably null |
Het |
Cbr2 |
A |
T |
11: 120,621,123 (GRCm39) |
M158K |
probably damaging |
Het |
Cgrrf1 |
T |
C |
14: 47,091,192 (GRCm39) |
S239P |
probably benign |
Het |
Clnk |
C |
A |
5: 38,952,254 (GRCm39) |
|
probably null |
Het |
Csad |
T |
C |
15: 102,086,197 (GRCm39) |
M445V |
probably damaging |
Het |
Dnajb7 |
T |
A |
15: 81,291,600 (GRCm39) |
N246Y |
probably damaging |
Het |
Dok6 |
T |
C |
18: 89,492,071 (GRCm39) |
I169V |
probably benign |
Het |
H2bc14 |
T |
C |
13: 21,906,631 (GRCm39) |
Y122H |
probably benign |
Het |
Il1f10 |
T |
G |
2: 24,181,267 (GRCm39) |
I11R |
possibly damaging |
Het |
Irs1 |
C |
T |
1: 82,267,254 (GRCm39) |
V321M |
probably damaging |
Het |
Itga9 |
T |
C |
9: 118,706,211 (GRCm39) |
F938L |
probably damaging |
Het |
Kif7 |
T |
C |
7: 79,354,442 (GRCm39) |
D781G |
probably damaging |
Het |
Klhl41 |
A |
T |
2: 69,501,505 (GRCm39) |
N322I |
probably damaging |
Het |
Krtap31-1 |
T |
G |
11: 99,798,901 (GRCm39) |
C35G |
possibly damaging |
Het |
Lsm11 |
A |
T |
11: 45,824,824 (GRCm39) |
D234E |
probably benign |
Het |
Med6 |
T |
C |
12: 81,620,677 (GRCm39) |
K223R |
probably benign |
Het |
Mfsd4b2 |
G |
A |
10: 39,798,064 (GRCm39) |
T97I |
probably benign |
Het |
Mrgpra1 |
A |
T |
7: 46,985,204 (GRCm39) |
C158* |
probably null |
Het |
Nr2e1 |
T |
C |
10: 42,458,881 (GRCm39) |
T8A |
probably benign |
Het |
Oas2 |
T |
C |
5: 120,887,838 (GRCm39) |
M1V |
probably null |
Het |
Or13a27 |
T |
C |
7: 139,925,162 (GRCm39) |
I247V |
probably benign |
Het |
Or14a260 |
T |
A |
7: 85,984,885 (GRCm39) |
I240F |
probably benign |
Het |
Or1e33 |
T |
A |
11: 73,738,697 (GRCm39) |
M85L |
probably benign |
Het |
Or8k17 |
T |
C |
2: 86,066,504 (GRCm39) |
Y218C |
probably damaging |
Het |
Or8w1 |
T |
A |
2: 87,465,233 (GRCm39) |
N286I |
probably damaging |
Het |
Otof |
C |
T |
5: 30,537,538 (GRCm39) |
G1257D |
probably benign |
Het |
Phf2 |
T |
C |
13: 48,971,236 (GRCm39) |
T479A |
probably benign |
Het |
Pik3c2a |
T |
C |
7: 115,942,232 (GRCm39) |
N1516S |
probably benign |
Het |
Qrich1 |
C |
A |
9: 108,433,236 (GRCm39) |
T622K |
probably damaging |
Het |
Rasip1 |
A |
G |
7: 45,281,943 (GRCm39) |
K482R |
probably damaging |
Het |
Rgl2 |
T |
C |
17: 34,155,918 (GRCm39) |
F698L |
probably benign |
Het |
Sclt1 |
A |
G |
3: 41,625,917 (GRCm39) |
I350T |
probably benign |
Het |
Sec23ip |
T |
G |
7: 128,369,364 (GRCm39) |
V696G |
probably damaging |
Het |
Serpina1e |
G |
T |
12: 103,917,354 (GRCm39) |
T105K |
probably benign |
Het |
Sin3a |
A |
G |
9: 57,020,828 (GRCm39) |
|
probably null |
Het |
Slc34a2 |
A |
G |
5: 53,218,182 (GRCm39) |
T154A |
probably damaging |
Het |
Slc9a3 |
T |
C |
13: 74,303,241 (GRCm39) |
L178P |
probably damaging |
Het |
Smarca2 |
A |
C |
19: 26,659,448 (GRCm39) |
I913L |
probably benign |
Het |
Spaca7b |
T |
A |
8: 11,715,056 (GRCm39) |
D46V |
probably damaging |
Het |
Tcea3 |
G |
A |
4: 136,001,027 (GRCm39) |
|
probably null |
Het |
Tektl1 |
G |
C |
10: 78,584,509 (GRCm39) |
Q338E |
probably benign |
Het |
Tmcc1 |
T |
A |
6: 116,020,435 (GRCm39) |
H339L |
|
Het |
Trpm2 |
G |
T |
10: 77,783,731 (GRCm39) |
H247Q |
probably damaging |
Het |
Tyr |
T |
A |
7: 87,121,724 (GRCm39) |
D356V |
probably damaging |
Het |
Vmn2r54 |
A |
T |
7: 12,349,888 (GRCm39) |
C565S |
probably damaging |
Het |
Vmn2r82 |
A |
C |
10: 79,213,636 (GRCm39) |
N74T |
probably benign |
Het |
Zcchc4 |
T |
C |
5: 52,973,260 (GRCm39) |
Y375H |
probably damaging |
Het |
Zfhx3 |
T |
A |
8: 109,675,353 (GRCm39) |
D2134E |
possibly damaging |
Het |
Zfhx4 |
T |
A |
3: 5,464,010 (GRCm39) |
Y1414* |
probably null |
Het |
Zfp282 |
A |
T |
6: 47,867,626 (GRCm39) |
E267D |
possibly damaging |
Het |
Zfp442 |
A |
T |
2: 150,251,096 (GRCm39) |
C269S |
possibly damaging |
Het |
Zp3 |
T |
A |
5: 136,014,418 (GRCm39) |
S246T |
probably benign |
Het |
|
Other mutations in Scarb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03355:Scarb1
|
APN |
5 |
125,366,766 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03052:Scarb1
|
UTSW |
5 |
125,371,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R0051:Scarb1
|
UTSW |
5 |
125,358,164 (GRCm39) |
splice site |
probably null |
|
R0317:Scarb1
|
UTSW |
5 |
125,366,756 (GRCm39) |
missense |
probably damaging |
0.99 |
R0455:Scarb1
|
UTSW |
5 |
125,366,745 (GRCm39) |
missense |
probably damaging |
0.96 |
R0491:Scarb1
|
UTSW |
5 |
125,375,795 (GRCm39) |
unclassified |
probably benign |
|
R0655:Scarb1
|
UTSW |
5 |
125,377,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R0676:Scarb1
|
UTSW |
5 |
125,374,278 (GRCm39) |
unclassified |
probably benign |
|
R2074:Scarb1
|
UTSW |
5 |
125,371,207 (GRCm39) |
missense |
probably benign |
|
R2267:Scarb1
|
UTSW |
5 |
125,364,439 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3951:Scarb1
|
UTSW |
5 |
125,364,475 (GRCm39) |
missense |
probably damaging |
0.99 |
R4080:Scarb1
|
UTSW |
5 |
125,354,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R4452:Scarb1
|
UTSW |
5 |
125,377,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R4925:Scarb1
|
UTSW |
5 |
125,374,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R5669:Scarb1
|
UTSW |
5 |
125,377,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R5809:Scarb1
|
UTSW |
5 |
125,381,286 (GRCm39) |
missense |
probably damaging |
0.98 |
R5872:Scarb1
|
UTSW |
5 |
125,381,341 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5883:Scarb1
|
UTSW |
5 |
125,417,971 (GRCm39) |
unclassified |
probably benign |
|
R6321:Scarb1
|
UTSW |
5 |
125,381,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R6508:Scarb1
|
UTSW |
5 |
125,381,389 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6618:Scarb1
|
UTSW |
5 |
125,381,394 (GRCm39) |
missense |
probably damaging |
0.96 |
R6931:Scarb1
|
UTSW |
5 |
125,361,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R7058:Scarb1
|
UTSW |
5 |
125,374,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R7099:Scarb1
|
UTSW |
5 |
125,381,414 (GRCm39) |
missense |
probably damaging |
0.98 |
R7146:Scarb1
|
UTSW |
5 |
125,361,089 (GRCm39) |
missense |
probably benign |
|
R7830:Scarb1
|
UTSW |
5 |
125,364,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R7873:Scarb1
|
UTSW |
5 |
125,371,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R8467:Scarb1
|
UTSW |
5 |
125,375,731 (GRCm39) |
missense |
probably damaging |
0.99 |
R8500:Scarb1
|
UTSW |
5 |
125,371,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R8814:Scarb1
|
UTSW |
5 |
125,371,156 (GRCm39) |
missense |
probably benign |
0.00 |
R9025:Scarb1
|
UTSW |
5 |
125,381,414 (GRCm39) |
missense |
probably damaging |
0.98 |
R9169:Scarb1
|
UTSW |
5 |
125,371,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R9462:Scarb1
|
UTSW |
5 |
125,417,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R9685:Scarb1
|
UTSW |
5 |
125,371,194 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9699:Scarb1
|
UTSW |
5 |
125,374,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGGCTCTGACCTTCATGC -3'
(R):5'- TCAGTGTACCATCACCCCAG -3'
Sequencing Primer
(F):5'- AGGTCCCGGAGTCTCAGATG -3'
(R):5'- GTACCATCACCCCAGGGCATG -3'
|
Posted On |
2020-06-30 |