Incidental Mutation 'R5287:Cd46'
| ID |
475439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd46
|
| Ensembl Gene |
ENSMUSG00000016493 |
| Gene Name |
CD46 antigen, complement regulatory protein |
| Synonyms |
CD46, Mcp |
| MMRRC Submission |
042871-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5287 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
194719134-194774557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 194744719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 340
(V340I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159563]
[ENSMUST00000162650]
|
| AlphaFold |
O88174 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159563
|
| SMART Domains |
Protein: ENSMUSP00000123901
Gene: ENSMUSG00000016493
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
CCP
|
45 |
104 |
6.7e-3 |
SMART |
|
CCP
|
109 |
168 |
3.87e-8 |
SMART |
|
CCP
|
173 |
234 |
2.14e-10 |
SMART |
|
CCP
|
239 |
294 |
1.06e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161772
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162650
AA Change: V340I
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123931
Gene: ENSMUSG00000016493
AA Change: V340I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
CCP
|
45 |
104 |
6.7e-3 |
SMART |
|
CCP
|
109 |
168 |
3.87e-8 |
SMART |
|
CCP
|
173 |
234 |
2.14e-10 |
SMART |
|
CCP
|
239 |
294 |
1.06e-14 |
SMART |
|
transmembrane domain
|
328 |
350 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162951
|
| Meta Mutation Damage Score |
0.2251 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (56/57) |
| 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 type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygous mutation of this gene results in increased litter sizes sired by mutant males. Another homozygous null mouse shows increased susceptibility to induced choroid neovascularization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
T |
C |
2: 93,666,298 (GRCm39) |
D463G |
probably damaging |
Het |
| Acsbg3 |
G |
T |
17: 57,183,221 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,588,001 (GRCm39) |
V929I |
probably benign |
Het |
| Anp32a |
A |
T |
9: 62,249,275 (GRCm39) |
I16F |
possibly damaging |
Het |
| Arpin |
T |
C |
7: 79,577,997 (GRCm39) |
E144G |
probably damaging |
Het |
| Asb18 |
T |
C |
1: 89,942,110 (GRCm39) |
T64A |
probably benign |
Het |
| Asxl2 |
A |
G |
12: 3,546,893 (GRCm39) |
N559S |
probably benign |
Het |
| Brd7 |
G |
T |
8: 89,084,169 (GRCm39) |
Q148K |
probably damaging |
Het |
| Brinp1 |
A |
G |
4: 68,711,201 (GRCm39) |
W336R |
probably benign |
Het |
| Btnl9 |
A |
G |
11: 49,060,434 (GRCm39) |
V438A |
probably benign |
Het |
| Cat |
T |
C |
2: 103,304,705 (GRCm39) |
T107A |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,397,263 (GRCm39) |
Y1080C |
possibly damaging |
Het |
| Ccdc138 |
T |
A |
10: 58,411,527 (GRCm39) |
F632I |
possibly damaging |
Het |
| Celf1 |
T |
C |
2: 90,839,552 (GRCm39) |
S326P |
possibly damaging |
Het |
| Ces1e |
T |
G |
8: 93,935,240 (GRCm39) |
D404A |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,239,895 (GRCm39) |
|
probably null |
Het |
| Clhc1 |
A |
G |
11: 29,528,244 (GRCm39) |
|
probably benign |
Het |
| Cops8 |
C |
T |
1: 90,534,342 (GRCm39) |
|
probably benign |
Het |
| Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
| Csmd2 |
C |
T |
4: 128,380,677 (GRCm39) |
R2078C |
probably benign |
Het |
| Dnm1l |
A |
C |
16: 16,151,732 (GRCm39) |
V240G |
probably damaging |
Het |
| Fezf1 |
C |
T |
6: 23,248,010 (GRCm39) |
V22M |
probably benign |
Het |
| Gm6818 |
T |
G |
7: 38,099,911 (GRCm39) |
|
noncoding transcript |
Het |
| Hand2 |
C |
T |
8: 57,775,080 (GRCm39) |
L47F |
probably damaging |
Het |
| Insyn2b |
A |
T |
11: 34,353,058 (GRCm39) |
T367S |
probably benign |
Het |
| Itga7 |
C |
A |
10: 128,779,027 (GRCm39) |
R351S |
probably benign |
Het |
| Mmp8 |
G |
T |
9: 7,567,507 (GRCm39) |
A456S |
probably benign |
Het |
| Mroh5 |
TGGAG |
TG |
15: 73,654,923 (GRCm39) |
|
probably benign |
Het |
| Opn4 |
T |
C |
14: 34,314,894 (GRCm39) |
T460A |
probably benign |
Het |
| Or6b2 |
A |
T |
1: 92,408,019 (GRCm39) |
V108E |
possibly damaging |
Het |
| Otog |
T |
C |
7: 45,918,753 (GRCm39) |
F943S |
probably damaging |
Het |
| Pcnx1 |
A |
T |
12: 82,028,825 (GRCm39) |
Y1668F |
probably damaging |
Het |
| Pheta1 |
A |
G |
5: 121,990,794 (GRCm39) |
E52G |
possibly damaging |
Het |
| Phf24 |
A |
T |
4: 42,933,831 (GRCm39) |
|
probably null |
Het |
| Phkg2 |
GCTGCCGGACGAGTGGCCT |
GCT |
7: 127,181,929 (GRCm39) |
|
probably null |
Het |
| Ppargc1a |
G |
A |
5: 51,620,167 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
G |
A |
4: 75,872,405 (GRCm39) |
R1355* |
probably null |
Het |
| Ptprn2 |
A |
T |
12: 117,175,482 (GRCm39) |
M721L |
probably damaging |
Het |
| Sec23ip |
A |
G |
7: 128,367,860 (GRCm39) |
E624G |
probably benign |
Het |
| Sfmbt1 |
G |
A |
14: 30,538,777 (GRCm39) |
V799M |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,073,607 (GRCm39) |
V1335A |
probably benign |
Het |
| Sp140 |
G |
A |
1: 85,538,545 (GRCm39) |
|
probably null |
Het |
| Spdye4c |
T |
C |
2: 128,434,560 (GRCm39) |
S46P |
possibly damaging |
Het |
| Syde1 |
T |
C |
10: 78,425,871 (GRCm39) |
R99G |
probably benign |
Het |
| T2 |
A |
T |
17: 8,636,835 (GRCm39) |
M57L |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,625,744 (GRCm39) |
S1402L |
probably benign |
Het |
| Tfap2e |
T |
C |
4: 126,628,439 (GRCm39) |
I172M |
probably benign |
Het |
| Tk1 |
A |
T |
11: 117,707,367 (GRCm39) |
V140E |
probably damaging |
Het |
| Tln2 |
G |
A |
9: 67,149,641 (GRCm39) |
T1192M |
probably damaging |
Het |
| Tmed8 |
C |
A |
12: 87,220,957 (GRCm39) |
A210S |
probably damaging |
Het |
| Tnip2 |
A |
G |
5: 34,671,108 (GRCm39) |
L45P |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,260,703 (GRCm39) |
V1396A |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,562,436 (GRCm39) |
S28803Y |
probably damaging |
Het |
| Wdr90 |
A |
T |
17: 26,080,441 (GRCm39) |
|
probably benign |
Het |
| Zfp7 |
G |
A |
15: 76,775,422 (GRCm39) |
R488Q |
probably damaging |
Het |
|
| Other mutations in Cd46 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02429:Cd46
|
APN |
1 |
194,767,732 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03029:Cd46
|
APN |
1 |
194,768,451 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0269:Cd46
|
UTSW |
1 |
194,746,996 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0375:Cd46
|
UTSW |
1 |
194,768,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0627:Cd46
|
UTSW |
1 |
194,774,494 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0784:Cd46
|
UTSW |
1 |
194,774,502 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0892:Cd46
|
UTSW |
1 |
194,764,920 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0973:Cd46
|
UTSW |
1 |
194,724,300 (GRCm39) |
makesense |
probably null |
|
|
R0973:Cd46
|
UTSW |
1 |
194,724,300 (GRCm39) |
makesense |
probably null |
|
|
R0974:Cd46
|
UTSW |
1 |
194,724,300 (GRCm39) |
makesense |
probably null |
|
|
R1224:Cd46
|
UTSW |
1 |
194,744,706 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1716:Cd46
|
UTSW |
1 |
194,760,117 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1863:Cd46
|
UTSW |
1 |
194,765,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2000:Cd46
|
UTSW |
1 |
194,760,012 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2152:Cd46
|
UTSW |
1 |
194,744,721 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2153:Cd46
|
UTSW |
1 |
194,744,721 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4452:Cd46
|
UTSW |
1 |
194,767,668 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4860:Cd46
|
UTSW |
1 |
194,744,704 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4860:Cd46
|
UTSW |
1 |
194,744,704 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4934:Cd46
|
UTSW |
1 |
194,765,107 (GRCm39) |
intron |
probably benign |
|
|
R5156:Cd46
|
UTSW |
1 |
194,767,693 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5303:Cd46
|
UTSW |
1 |
194,744,707 (GRCm39) |
missense |
probably benign |
|
|
R5403:Cd46
|
UTSW |
1 |
194,744,719 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5487:Cd46
|
UTSW |
1 |
194,750,478 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5505:Cd46
|
UTSW |
1 |
194,767,688 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5538:Cd46
|
UTSW |
1 |
194,750,478 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6721:Cd46
|
UTSW |
1 |
194,765,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6731:Cd46
|
UTSW |
1 |
194,765,775 (GRCm39) |
splice site |
probably null |
|
|
R7226:Cd46
|
UTSW |
1 |
194,724,314 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7633:Cd46
|
UTSW |
1 |
194,765,927 (GRCm39) |
missense |
probably null |
0.01 |
|
R8277:Cd46
|
UTSW |
1 |
194,747,030 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8672:Cd46
|
UTSW |
1 |
194,764,949 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9153:Cd46
|
UTSW |
1 |
194,774,479 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9435:Cd46
|
UTSW |
1 |
194,767,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9455:Cd46
|
UTSW |
1 |
194,744,704 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCCTTATGCTGCAATGATGTC -3'
(R):5'- GAGAAACCCTGTAGTTCCAGC -3'
Sequencing Primer
(F):5'- AGTTGACCACACTTTAGCAAAG -3'
(R):5'- CTGTAGTTCCAGCTACACAGAG -3'
|
| Posted On |
2017-04-20 |
Incidental Mutation