Incidental Mutation 'R7837:Msr1'
| ID |
606053 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msr1
|
| Ensembl Gene |
ENSMUSG00000025044 |
| Gene Name |
macrophage scavenger receptor 1 |
| Synonyms |
SR-AII, Scara1, MRS-A, Scvr, MSR-A, SR-AI |
| MMRRC Submission |
045891-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R7837 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
40034726-40095714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 40034873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 426
(C426Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026021]
|
| AlphaFold |
P30204 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026021
AA Change: C426Y
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000026021
Gene: ENSMUSG00000025044
AA Change: C426Y
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
58 |
80 |
N/A |
INTRINSIC |
|
Pfam:Macscav_rec
|
125 |
173 |
1.5e-28 |
PFAM |
|
coiled coil region
|
209 |
259 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
275 |
330 |
3.2e-11 |
PFAM |
|
Pfam:Collagen
|
295 |
353 |
4.8e-10 |
PFAM |
|
SR
|
357 |
457 |
5.68e-56 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and have been implicated in many macrophage-associated physiological and pathological processes including atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1 and type 2 are functional receptors and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing and is trapped within the endoplasmic reticulum, making it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating a dominant negative effect and suggesting a mechanism for regulation of scavenger receptor activity in macrophages. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal uptake and degradation of acetylated low density lipoproteins by macrophages, increased interleukin-12 secretion in response to CpG oligodeoxynucleotide administration, and increased bacterial and viral infection induced morbidity/mortality. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
T |
C |
4: 144,344,547 (GRCm39) |
S108P |
probably damaging |
Het |
| Acox3 |
A |
G |
5: 35,768,830 (GRCm39) |
|
probably null |
Het |
| Adam22 |
T |
A |
5: 8,199,284 (GRCm39) |
|
probably null |
Het |
| Adgrb3 |
T |
C |
1: 25,167,915 (GRCm39) |
Y1007C |
probably damaging |
Het |
| Anapc4 |
T |
A |
5: 53,016,550 (GRCm39) |
|
probably null |
Het |
| Aoc1 |
T |
A |
6: 48,882,584 (GRCm39) |
Y153* |
probably null |
Het |
| Armc1 |
A |
T |
3: 19,198,633 (GRCm39) |
I109N |
probably benign |
Het |
| Bcl2 |
A |
C |
1: 106,471,086 (GRCm39) |
F207V |
possibly damaging |
Het |
| Btd |
C |
A |
14: 31,388,784 (GRCm39) |
S168R |
possibly damaging |
Het |
| Cage1 |
A |
T |
13: 38,206,381 (GRCm39) |
M488K |
not run |
Het |
| Cemip2 |
T |
A |
19: 21,775,385 (GRCm39) |
D209E |
probably benign |
Het |
| Cenpj |
T |
C |
14: 56,796,185 (GRCm39) |
N224S |
probably benign |
Het |
| Cln6 |
T |
C |
9: 62,756,330 (GRCm39) |
V81A |
|
Het |
| Crispld1 |
T |
A |
1: 17,798,954 (GRCm39) |
V25E |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,518,176 (GRCm39) |
T1808A |
probably benign |
Het |
| Dnm3 |
C |
T |
1: 161,819,619 (GRCm39) |
R851H |
possibly damaging |
Het |
| Dtx3l |
T |
A |
16: 35,751,896 (GRCm39) |
N675I |
probably damaging |
Het |
| Dusp28 |
A |
G |
1: 92,835,405 (GRCm39) |
E163G |
probably benign |
Het |
| Ecd |
A |
T |
14: 20,383,400 (GRCm39) |
F346L |
probably damaging |
Het |
| F5 |
G |
A |
1: 164,014,363 (GRCm39) |
V545M |
probably damaging |
Het |
| Gm19410 |
A |
T |
8: 36,276,134 (GRCm39) |
Y1597F |
possibly damaging |
Het |
| Gm4559 |
C |
T |
7: 141,827,553 (GRCm39) |
R183K |
unknown |
Het |
| Gria2 |
A |
T |
3: 80,618,095 (GRCm39) |
N313K |
probably benign |
Het |
| Igkv13-84 |
C |
T |
6: 68,916,793 (GRCm39) |
S30F |
possibly damaging |
Het |
| Kcnh6 |
C |
A |
11: 105,924,636 (GRCm39) |
H867N |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,456,792 (GRCm39) |
Q196R |
possibly damaging |
Het |
| Mbd4 |
T |
C |
6: 115,826,500 (GRCm39) |
N164D |
probably benign |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,076 (GRCm39) |
M201K |
possibly damaging |
Het |
| Msh6 |
G |
A |
17: 88,292,094 (GRCm39) |
G283E |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,369,700 (GRCm39) |
H3149R |
possibly damaging |
Het |
| Nr1i2 |
T |
C |
16: 38,074,146 (GRCm39) |
M156V |
probably benign |
Het |
| Ogdhl |
T |
C |
14: 32,068,415 (GRCm39) |
V884A |
possibly damaging |
Het |
| Or13a21 |
T |
C |
7: 139,999,234 (GRCm39) |
I151V |
probably benign |
Het |
| Or4c102 |
A |
T |
2: 88,422,723 (GRCm39) |
I192F |
possibly damaging |
Het |
| Or4k15b |
T |
A |
14: 50,272,033 (GRCm39) |
T276S |
probably damaging |
Het |
| Or51ag1 |
A |
T |
7: 103,156,052 (GRCm39) |
C34S |
possibly damaging |
Het |
| Pakap |
A |
G |
4: 57,855,262 (GRCm39) |
D197G |
probably damaging |
Het |
| Pcnx4 |
C |
A |
12: 72,602,892 (GRCm39) |
L385M |
probably damaging |
Het |
| Pgap4 |
A |
T |
4: 49,586,262 (GRCm39) |
M302K |
probably damaging |
Het |
| Plscr4 |
T |
A |
9: 92,366,976 (GRCm39) |
C197S |
probably damaging |
Het |
| Rin3 |
A |
G |
12: 102,335,024 (GRCm39) |
T312A |
unknown |
Het |
| Septin7 |
T |
A |
9: 25,199,531 (GRCm39) |
N143K |
possibly damaging |
Het |
| Sgk2 |
A |
G |
2: 162,845,216 (GRCm39) |
K208E |
probably damaging |
Het |
| Slc4a5 |
A |
T |
6: 83,238,539 (GRCm39) |
T236S |
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,088,832 (GRCm39) |
L810P |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,534,146 (GRCm39) |
S3468G |
probably benign |
Het |
| Tarbp1 |
T |
C |
8: 127,201,300 (GRCm39) |
S169G |
probably benign |
Het |
| Tex56 |
A |
T |
13: 35,128,359 (GRCm39) |
Q192L |
possibly damaging |
Het |
| Tssk2 |
T |
C |
16: 17,716,615 (GRCm39) |
V6A |
possibly damaging |
Het |
| Ttll4 |
A |
T |
1: 74,720,916 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
C |
T |
4: 139,120,462 (GRCm39) |
R296* |
probably null |
Het |
| Wscd2 |
G |
T |
5: 113,710,394 (GRCm39) |
C306F |
probably damaging |
Het |
| Zbtb43 |
C |
T |
2: 33,343,981 (GRCm39) |
G378R |
probably damaging |
Het |
| Zdhhc12 |
A |
T |
2: 29,981,709 (GRCm39) |
V165E |
probably damaging |
Het |
| Zfp59 |
GAAA |
GAAAAA |
7: 27,554,342 (GRCm39) |
|
probably null |
Het |
| Zfp943 |
A |
T |
17: 22,211,346 (GRCm39) |
Y144F |
probably benign |
Het |
| Zkscan8 |
T |
A |
13: 21,704,598 (GRCm39) |
N447I |
possibly damaging |
Het |
|
| Other mutations in Msr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01535:Msr1
|
APN |
8 |
40,064,714 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02047:Msr1
|
APN |
8 |
40,077,001 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02218:Msr1
|
APN |
8 |
40,042,357 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02347:Msr1
|
APN |
8 |
40,085,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02546:Msr1
|
APN |
8 |
40,068,788 (GRCm39) |
missense |
probably benign |
|
|
IGL02707:Msr1
|
APN |
8 |
40,085,870 (GRCm39) |
splice site |
probably benign |
|
|
IGL03340:Msr1
|
APN |
8 |
40,073,048 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0349:Msr1
|
UTSW |
8 |
40,034,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0378:Msr1
|
UTSW |
8 |
40,042,423 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0633:Msr1
|
UTSW |
8 |
40,073,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1386:Msr1
|
UTSW |
8 |
40,042,334 (GRCm39) |
nonsense |
probably null |
|
|
R1807:Msr1
|
UTSW |
8 |
40,072,948 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2039:Msr1
|
UTSW |
8 |
40,042,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2174:Msr1
|
UTSW |
8 |
40,084,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2291:Msr1
|
UTSW |
8 |
40,077,263 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3983:Msr1
|
UTSW |
8 |
40,073,059 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4807:Msr1
|
UTSW |
8 |
40,095,668 (GRCm39) |
start gained |
probably benign |
|
|
R4921:Msr1
|
UTSW |
8 |
40,077,292 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5055:Msr1
|
UTSW |
8 |
40,076,997 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5567:Msr1
|
UTSW |
8 |
40,064,760 (GRCm39) |
missense |
probably benign |
|
|
R5570:Msr1
|
UTSW |
8 |
40,064,760 (GRCm39) |
missense |
probably benign |
|
|
R5871:Msr1
|
UTSW |
8 |
40,064,693 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5914:Msr1
|
UTSW |
8 |
40,034,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6141:Msr1
|
UTSW |
8 |
40,084,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6429:Msr1
|
UTSW |
8 |
40,068,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6519:Msr1
|
UTSW |
8 |
40,077,262 (GRCm39) |
missense |
probably benign |
|
|
R6527:Msr1
|
UTSW |
8 |
40,077,274 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6842:Msr1
|
UTSW |
8 |
40,085,866 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7006:Msr1
|
UTSW |
8 |
40,042,423 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7047:Msr1
|
UTSW |
8 |
40,095,657 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7135:Msr1
|
UTSW |
8 |
40,042,465 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7552:Msr1
|
UTSW |
8 |
40,077,003 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8995:Msr1
|
UTSW |
8 |
40,042,460 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9707:Msr1
|
UTSW |
8 |
40,076,988 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9723:Msr1
|
UTSW |
8 |
40,042,357 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
Z1177:Msr1
|
UTSW |
8 |
40,084,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAAATGATTTTAGTGGAGCAGGGC -3'
(R):5'- AGTAGTTTATAAGCTGGCAGGG -3'
Sequencing Primer
(F):5'- GCAGGGCAACAAAAATGGTTTC -3'
(R):5'- TGACATTTTCTGAGCCAGGAAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation