Incidental Mutation 'R1744:Cd163'
| ID |
200584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd163
|
| Ensembl Gene |
ENSMUSG00000008845 |
| Gene Name |
CD163 antigen |
| Synonyms |
|
| MMRRC Submission |
039776-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1744 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124281615-124307486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 124283987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 53
(A53E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108160
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032234]
[ENSMUST00000112541]
|
| AlphaFold |
Q2VLH6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032234
AA Change: A53E
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032234
Gene: ENSMUSG00000008845
AA Change: A53E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
SR
|
50 |
150 |
1.1e-52 |
SMART |
|
SR
|
157 |
258 |
1.4e-55 |
SMART |
|
SR
|
265 |
365 |
7.3e-60 |
SMART |
|
SR
|
372 |
472 |
1.2e-35 |
SMART |
|
SR
|
477 |
577 |
2.3e-41 |
SMART |
|
SR
|
582 |
682 |
9.8e-39 |
SMART |
|
SR
|
719 |
819 |
1.1e-60 |
SMART |
|
SR
|
824 |
927 |
4e-24 |
SMART |
|
SR
|
930 |
1030 |
2.3e-55 |
SMART |
|
transmembrane domain
|
1046 |
1068 |
N/A |
INTRINSIC |
|
low complexity region
|
1095 |
1107 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104136
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112541
AA Change: A53E
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108160
Gene: ENSMUSG00000008845
AA Change: A53E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
SR
|
50 |
150 |
2.26e-50 |
SMART |
|
SR
|
157 |
258 |
3.11e-53 |
SMART |
|
SR
|
265 |
365 |
1.54e-57 |
SMART |
|
SR
|
372 |
472 |
2.64e-33 |
SMART |
|
SR
|
477 |
577 |
5.03e-39 |
SMART |
|
SR
|
582 |
682 |
2.09e-36 |
SMART |
|
SR
|
719 |
819 |
2.38e-58 |
SMART |
|
SR
|
824 |
927 |
8.93e-22 |
SMART |
|
SR
|
930 |
1030 |
5.06e-53 |
SMART |
|
transmembrane domain
|
1046 |
1068 |
N/A |
INTRINSIC |
|
low complexity region
|
1095 |
1107 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
| Validation Efficiency |
98% (59/60) |
| 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 member of the scavenger receptor cysteine-rich (SRCR) superfamily, and is exclusively expressed in monocytes and macrophages. It functions as an acute phase-regulated receptor involved in the clearance and endocytosis of hemoglobin/haptoglobin complexes by macrophages, and may thereby protect tissues from free hemoglobin-mediated oxidative damage. This protein may also function as an innate immune sensor for bacteria and inducer of local inflammation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: After hindlimb ischemia, mice homozygous for a knock-out allele exhibit increased muscle satellite cell proliferation, and enhanced skeletal muscle regeneration not limited to the site of injury. Knock-out mice also exhibit increased eosinophilic airway inflammation in house dust mite-challenged. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
G |
5: 81,942,267 (GRCm39) |
E1247G |
probably damaging |
Het |
| Bcl2l15 |
T |
A |
3: 103,745,856 (GRCm39) |
L165Q |
probably damaging |
Het |
| Cemip2 |
C |
A |
19: 21,809,501 (GRCm39) |
Y960* |
probably null |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Clca3a1 |
G |
T |
3: 144,452,596 (GRCm39) |
A629D |
probably damaging |
Het |
| Csde1 |
T |
A |
3: 102,957,631 (GRCm39) |
S463R |
probably benign |
Het |
| Cth |
C |
G |
3: 157,611,905 (GRCm39) |
R304P |
probably damaging |
Het |
| D7Ertd443e |
A |
G |
7: 133,951,142 (GRCm39) |
V177A |
probably benign |
Het |
| Ddx56 |
G |
A |
11: 6,216,396 (GRCm39) |
R189W |
probably damaging |
Het |
| Dennd2a |
A |
T |
6: 39,457,185 (GRCm39) |
F752L |
probably benign |
Het |
| Gabrp |
A |
T |
11: 33,522,462 (GRCm39) |
V28E |
probably benign |
Het |
| Gpam |
T |
C |
19: 55,063,023 (GRCm39) |
E763G |
probably damaging |
Het |
| Hars1 |
G |
A |
18: 36,903,885 (GRCm39) |
R266C |
probably benign |
Het |
| Klf7 |
C |
A |
1: 64,118,372 (GRCm39) |
R75L |
possibly damaging |
Het |
| Kmt2d |
T |
C |
15: 98,762,928 (GRCm39) |
K281E |
probably damaging |
Het |
| Lbx1 |
T |
C |
19: 45,222,652 (GRCm39) |
K124E |
probably damaging |
Het |
| Lcp2 |
T |
C |
11: 34,019,911 (GRCm39) |
|
probably null |
Het |
| Mab21l2 |
T |
C |
3: 86,454,211 (GRCm39) |
E263G |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,369,646 (GRCm39) |
I140K |
probably damaging |
Het |
| Mcemp1 |
G |
A |
8: 3,716,054 (GRCm39) |
A20T |
probably damaging |
Het |
| Met |
T |
C |
6: 17,540,645 (GRCm39) |
V137A |
possibly damaging |
Het |
| Mgat5 |
T |
C |
1: 127,407,206 (GRCm39) |
F624S |
probably damaging |
Het |
| Nutm2 |
T |
C |
13: 50,623,390 (GRCm39) |
I29T |
probably benign |
Het |
| Ociad1 |
T |
C |
5: 73,458,062 (GRCm39) |
|
probably null |
Het |
| Ogfod2 |
G |
A |
5: 124,252,219 (GRCm39) |
|
probably null |
Het |
| Or6c69 |
A |
C |
10: 129,747,262 (GRCm39) |
V295G |
probably damaging |
Het |
| Or8g4 |
A |
C |
9: 39,661,711 (GRCm39) |
T10P |
probably benign |
Het |
| Otoa |
G |
A |
7: 120,726,999 (GRCm39) |
|
probably benign |
Het |
| Otud3 |
A |
C |
4: 138,623,059 (GRCm39) |
L394R |
probably damaging |
Het |
| Pde5a |
T |
C |
3: 122,541,546 (GRCm39) |
V12A |
probably damaging |
Het |
| Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
| Prr27 |
A |
G |
5: 87,990,906 (GRCm39) |
I173V |
possibly damaging |
Het |
| Psg29 |
T |
C |
7: 16,944,278 (GRCm39) |
C263R |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 66,996,361 (GRCm39) |
Y1242C |
probably damaging |
Het |
| Retsat |
C |
T |
6: 72,583,558 (GRCm39) |
R84* |
probably null |
Het |
| Rif1 |
G |
A |
2: 52,002,404 (GRCm39) |
V1953I |
possibly damaging |
Het |
| Ros1 |
A |
T |
10: 51,999,475 (GRCm39) |
N1137K |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,152,620 (GRCm39) |
H787R |
probably benign |
Het |
| Sec16a |
T |
C |
2: 26,329,198 (GRCm39) |
E939G |
probably damaging |
Het |
| Sh2d4a |
G |
A |
8: 68,783,807 (GRCm39) |
G247D |
possibly damaging |
Het |
| Siglec1 |
A |
G |
2: 130,923,219 (GRCm39) |
S509P |
probably damaging |
Het |
| Slc25a30 |
A |
G |
14: 76,000,770 (GRCm39) |
I278T |
probably damaging |
Het |
| Slc6a20a |
C |
T |
9: 123,492,058 (GRCm39) |
V104I |
probably benign |
Het |
| Sp110 |
G |
C |
1: 85,522,093 (GRCm39) |
T70S |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Stxbp1 |
A |
G |
2: 32,696,731 (GRCm39) |
|
probably null |
Het |
| Tmem132b |
T |
C |
5: 125,855,908 (GRCm39) |
|
probably null |
Het |
| Tnfsf13b |
G |
A |
8: 10,081,661 (GRCm39) |
|
probably null |
Het |
| Trappc6a |
A |
G |
7: 19,248,154 (GRCm39) |
E38G |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,524,609 (GRCm39) |
D857G |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,700,718 (GRCm39) |
|
probably null |
Het |
| Vmn1r23 |
A |
T |
6: 57,902,910 (GRCm39) |
N289K |
possibly damaging |
Het |
| Zcchc8 |
G |
A |
5: 123,838,436 (GRCm39) |
Q701* |
probably null |
Het |
| Zfp618 |
A |
T |
4: 63,004,871 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cd163 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00232:Cd163
|
APN |
6 |
124,306,060 (GRCm39) |
splice site |
probably benign |
|
|
IGL00755:Cd163
|
APN |
6 |
124,295,616 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01690:Cd163
|
APN |
6 |
124,284,277 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02101:Cd163
|
APN |
6 |
124,284,246 (GRCm39) |
nonsense |
probably null |
|
|
IGL02733:Cd163
|
APN |
6 |
124,302,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02801:Cd163
|
APN |
6 |
124,297,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02897:Cd163
|
APN |
6 |
124,302,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03074:Cd163
|
APN |
6 |
124,294,945 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03283:Cd163
|
APN |
6 |
124,286,158 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
compass
|
UTSW |
6 |
124,306,045 (GRCm39) |
makesense |
probably null |
|
|
hottish
|
UTSW |
6 |
124,286,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
protractor
|
UTSW |
6 |
124,288,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
t-square
|
UTSW |
6 |
124,302,247 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0494:Cd163
|
UTSW |
6 |
124,288,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0554:Cd163
|
UTSW |
6 |
124,289,619 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0622:Cd163
|
UTSW |
6 |
124,294,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1004:Cd163
|
UTSW |
6 |
124,302,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1061:Cd163
|
UTSW |
6 |
124,286,128 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1132:Cd163
|
UTSW |
6 |
124,286,055 (GRCm39) |
nonsense |
probably null |
|
|
R1195:Cd163
|
UTSW |
6 |
124,302,209 (GRCm39) |
splice site |
probably benign |
|
|
R1195:Cd163
|
UTSW |
6 |
124,302,209 (GRCm39) |
splice site |
probably benign |
|
|
R1436:Cd163
|
UTSW |
6 |
124,304,890 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1463:Cd163
|
UTSW |
6 |
124,288,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1532:Cd163
|
UTSW |
6 |
124,289,689 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1541:Cd163
|
UTSW |
6 |
124,304,920 (GRCm39) |
missense |
probably benign |
|
|
R1654:Cd163
|
UTSW |
6 |
124,294,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Cd163
|
UTSW |
6 |
124,306,547 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2014:Cd163
|
UTSW |
6 |
124,302,457 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2035:Cd163
|
UTSW |
6 |
124,297,588 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2095:Cd163
|
UTSW |
6 |
124,294,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2124:Cd163
|
UTSW |
6 |
124,295,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Cd163
|
UTSW |
6 |
124,286,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2353:Cd163
|
UTSW |
6 |
124,296,115 (GRCm39) |
nonsense |
probably null |
|
|
R3854:Cd163
|
UTSW |
6 |
124,288,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4425:Cd163
|
UTSW |
6 |
124,304,862 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4631:Cd163
|
UTSW |
6 |
124,306,045 (GRCm39) |
makesense |
probably null |
|
|
R4647:Cd163
|
UTSW |
6 |
124,297,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4713:Cd163
|
UTSW |
6 |
124,294,577 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4803:Cd163
|
UTSW |
6 |
124,289,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4996:Cd163
|
UTSW |
6 |
124,296,106 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5022:Cd163
|
UTSW |
6 |
124,302,247 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5023:Cd163
|
UTSW |
6 |
124,302,247 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5032:Cd163
|
UTSW |
6 |
124,288,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5057:Cd163
|
UTSW |
6 |
124,302,247 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5121:Cd163
|
UTSW |
6 |
124,294,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5436:Cd163
|
UTSW |
6 |
124,304,923 (GRCm39) |
missense |
probably benign |
|
|
R5453:Cd163
|
UTSW |
6 |
124,289,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5723:Cd163
|
UTSW |
6 |
124,296,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5929:Cd163
|
UTSW |
6 |
124,303,568 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5943:Cd163
|
UTSW |
6 |
124,306,561 (GRCm39) |
makesense |
probably null |
|
|
R5964:Cd163
|
UTSW |
6 |
124,303,531 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5966:Cd163
|
UTSW |
6 |
124,297,595 (GRCm39) |
nonsense |
probably null |
|
|
R6279:Cd163
|
UTSW |
6 |
124,294,950 (GRCm39) |
nonsense |
probably null |
|
|
R6300:Cd163
|
UTSW |
6 |
124,294,950 (GRCm39) |
nonsense |
probably null |
|
|
R6499:Cd163
|
UTSW |
6 |
124,281,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6602:Cd163
|
UTSW |
6 |
124,288,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6708:Cd163
|
UTSW |
6 |
124,286,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6767:Cd163
|
UTSW |
6 |
124,281,738 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6979:Cd163
|
UTSW |
6 |
124,294,945 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6993:Cd163
|
UTSW |
6 |
124,294,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7345:Cd163
|
UTSW |
6 |
124,295,897 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7382:Cd163
|
UTSW |
6 |
124,288,271 (GRCm39) |
splice site |
probably null |
|
|
R7552:Cd163
|
UTSW |
6 |
124,284,187 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7829:Cd163
|
UTSW |
6 |
124,281,738 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8354:Cd163
|
UTSW |
6 |
124,305,924 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8454:Cd163
|
UTSW |
6 |
124,305,924 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8530:Cd163
|
UTSW |
6 |
124,295,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8560:Cd163
|
UTSW |
6 |
124,294,360 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8878:Cd163
|
UTSW |
6 |
124,297,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8930:Cd163
|
UTSW |
6 |
124,294,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Cd163
|
UTSW |
6 |
124,294,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9074:Cd163
|
UTSW |
6 |
124,285,947 (GRCm39) |
nonsense |
probably null |
|
|
R9408:Cd163
|
UTSW |
6 |
124,297,497 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9530:Cd163
|
UTSW |
6 |
124,294,491 (GRCm39) |
nonsense |
probably null |
|
|
R9558:Cd163
|
UTSW |
6 |
124,297,471 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9608:Cd163
|
UTSW |
6 |
124,286,163 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9685:Cd163
|
UTSW |
6 |
124,288,384 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Z1177:Cd163
|
UTSW |
6 |
124,294,344 (GRCm39) |
missense |
probably benign |
0.34 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCATTGCTCTACTTGAAGCCTG -3'
(R):5'- GTCCCAAAGAGCTGACTCATTCCC -3'
Sequencing Primer
(F):5'- GGTACTAATAGTTCCATCTGGACAC -3'
(R):5'- AGCTGACTCATTCCCTGTACAAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation