Incidental Mutation 'R3951:Scarb1'
ID |
307929 |
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 |
040828-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3951 (G1)
|
Quality Score |
218 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
125354151-125418158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 125364475 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Glycine
at position 85
(C85G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122100
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086075]
[ENSMUST00000111390]
[ENSMUST00000127148]
|
AlphaFold |
Q61009 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086075
AA Change: C384G
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000083242 Gene: ENSMUSG00000037936 AA Change: C384G
Domain | Start | End | E-Value | Type |
Pfam:CD36
|
16 |
463 |
6.4e-154 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111390
AA Change: C384G
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000107021 Gene: ENSMUSG00000037936 AA Change: C384G
Domain | Start | End | E-Value | Type |
Pfam:CD36
|
14 |
465 |
4.7e-158 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124582
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000127148
AA Change: C85G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000122100 Gene: ENSMUSG00000037936 AA Change: C85G
Domain | Start | End | E-Value | Type |
Pfam:CD36
|
1 |
123 |
1.2e-43 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135736
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148373
|
Meta Mutation Damage Score |
0.8613 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (55/55) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
C |
10: 100,451,158 (GRCm39) |
|
probably benign |
Het |
4932414N04Rik |
T |
C |
2: 68,494,747 (GRCm39) |
|
probably null |
Het |
Akr1c18 |
C |
T |
13: 4,185,284 (GRCm39) |
V283I |
probably benign |
Het |
Atp2b2 |
T |
A |
6: 113,737,792 (GRCm39) |
M861L |
possibly damaging |
Het |
Cdh23 |
T |
C |
10: 60,493,105 (GRCm39) |
Y3C |
probably benign |
Het |
Clspn |
A |
G |
4: 126,470,172 (GRCm39) |
E814G |
probably damaging |
Het |
Csgalnact1 |
T |
C |
8: 68,913,914 (GRCm39) |
Q97R |
probably benign |
Het |
Dera |
A |
G |
6: 137,814,118 (GRCm39) |
Y100C |
probably damaging |
Het |
Ect2 |
A |
T |
3: 27,184,269 (GRCm39) |
D517E |
probably benign |
Het |
Epha4 |
A |
T |
1: 77,376,353 (GRCm39) |
Y509N |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,187,208 (GRCm39) |
T1213A |
probably benign |
Het |
Fkbp8 |
T |
A |
8: 70,985,311 (GRCm39) |
L275Q |
probably damaging |
Het |
Gabrb2 |
A |
G |
11: 42,517,708 (GRCm39) |
Y510C |
probably damaging |
Het |
Gda |
T |
C |
19: 21,449,809 (GRCm39) |
T16A |
probably benign |
Het |
Ggcx |
G |
A |
6: 72,403,541 (GRCm39) |
G363R |
probably benign |
Het |
Gm527 |
T |
G |
12: 64,970,276 (GRCm39) |
|
probably benign |
Het |
Hoxb2 |
A |
G |
11: 96,244,001 (GRCm39) |
E204G |
probably damaging |
Het |
Hsd17b11 |
G |
A |
5: 104,140,803 (GRCm39) |
|
probably benign |
Het |
Kat14 |
T |
C |
2: 144,249,249 (GRCm39) |
|
probably benign |
Het |
Kif16b |
C |
T |
2: 142,549,279 (GRCm39) |
V1079I |
probably benign |
Het |
Klhl29 |
T |
A |
12: 5,190,660 (GRCm39) |
S112C |
probably damaging |
Het |
Lpcat2 |
G |
T |
8: 93,591,531 (GRCm39) |
M58I |
probably benign |
Het |
Lrrc8d |
G |
T |
5: 105,962,142 (GRCm39) |
V851F |
probably benign |
Het |
Ltbp3 |
T |
C |
19: 5,806,029 (GRCm39) |
V929A |
probably damaging |
Het |
Map3k20 |
T |
G |
2: 72,268,644 (GRCm39) |
I550M |
probably damaging |
Het |
Map3k9 |
T |
C |
12: 81,769,295 (GRCm39) |
M941V |
probably benign |
Het |
Myom2 |
A |
T |
8: 15,134,556 (GRCm39) |
Y453F |
probably benign |
Het |
Ncapd2 |
T |
C |
6: 125,163,747 (GRCm39) |
K78E |
probably damaging |
Het |
Ncor2 |
G |
T |
5: 125,109,320 (GRCm39) |
D1496E |
possibly damaging |
Het |
Ndnf |
T |
C |
6: 65,680,125 (GRCm39) |
Y135H |
possibly damaging |
Het |
Ndst1 |
T |
C |
18: 60,830,211 (GRCm39) |
N633S |
probably benign |
Het |
Nmur2 |
G |
C |
11: 55,931,051 (GRCm39) |
P220R |
probably damaging |
Het |
Nsd1 |
G |
C |
13: 55,416,267 (GRCm39) |
E1438Q |
probably benign |
Het |
Or5al7 |
G |
T |
2: 85,992,962 (GRCm39) |
C110* |
probably null |
Het |
Or5w10 |
T |
C |
2: 87,375,409 (GRCm39) |
T160A |
probably damaging |
Het |
Or8g2 |
A |
T |
9: 39,822,021 (GRCm39) |
R307S |
probably benign |
Het |
Or9s23 |
T |
A |
1: 92,501,511 (GRCm39) |
M206K |
possibly damaging |
Het |
Pom121l2 |
T |
G |
13: 22,166,298 (GRCm39) |
S190A |
probably damaging |
Het |
Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
Rtn4ip1 |
T |
A |
10: 43,785,893 (GRCm39) |
|
probably null |
Het |
Sh2d4b |
A |
G |
14: 40,594,503 (GRCm39) |
I159T |
probably damaging |
Het |
Skic3 |
T |
G |
13: 76,278,338 (GRCm39) |
L551V |
probably damaging |
Het |
Sntg1 |
C |
T |
1: 8,853,125 (GRCm39) |
|
probably benign |
Het |
Sos1 |
G |
A |
17: 80,731,610 (GRCm39) |
T630I |
probably damaging |
Het |
Spata7 |
T |
A |
12: 98,635,732 (GRCm39) |
D517E |
probably damaging |
Het |
Tcaf1 |
T |
C |
6: 42,655,993 (GRCm39) |
T328A |
probably benign |
Het |
Ticrr |
T |
C |
7: 79,331,817 (GRCm39) |
L776S |
probably damaging |
Het |
Trpc2 |
T |
A |
7: 101,742,781 (GRCm39) |
M597K |
probably damaging |
Het |
Tubb3 |
C |
A |
8: 124,148,003 (GRCm39) |
T312N |
probably damaging |
Het |
Ubr4 |
G |
A |
4: 139,120,405 (GRCm39) |
V277M |
probably damaging |
Het |
Uhrf2 |
G |
A |
19: 30,057,261 (GRCm39) |
R473Q |
probably damaging |
Het |
Vmn2r43 |
T |
A |
7: 8,258,319 (GRCm39) |
H298L |
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 |
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 |
R8158:Scarb1
|
UTSW |
5 |
125,380,201 (GRCm39) |
missense |
probably benign |
0.01 |
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'- AAAAGAGGTGGTTGGATCCC -3'
(R):5'- CCTTTGGGAGCAGGTATTTCC -3'
Sequencing Primer
(F):5'- CAACGCTTGGGCCTCGC -3'
(R):5'- AGGTATTTCCTGAGGGAGAGCC -3'
|
Posted On |
2015-04-17 |