Incidental Mutation 'R6878:Cd47'
| ID |
536535 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd47
|
| Ensembl Gene |
ENSMUSG00000055447 |
| Gene Name |
CD47 antigen (Rh-related antigen, integrin-associated signal transducer) |
| Synonyms |
IAP, 9130415E20Rik, Itgp, integrin-associated protein, B430305P08Rik |
| MMRRC Submission |
044974-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6878 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
49671691-49732799 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49731232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 278
(E278G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084838]
[ENSMUST00000114496]
[ENSMUST00000229101]
[ENSMUST00000229104]
[ENSMUST00000229206]
[ENSMUST00000229640]
[ENSMUST00000230281]
[ENSMUST00000230641]
[ENSMUST00000230836]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084838
AA Change: N323D
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099853
Gene: ENSMUSG00000055447
AA Change: N323D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-set_CD47
|
8 |
137 |
2.2e-46 |
PFAM |
|
Pfam:CD47
|
163 |
317 |
4.7e-62 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000114496
AA Change: N270D
|
| SMART Domains |
Protein: ENSMUSP00000110140
Gene: ENSMUSG00000055447
AA Change: N270D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-set_CD47
|
1 |
41 |
1.8e-15 |
PFAM |
|
Pfam:CD47
|
42 |
199 |
6.8e-59 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229101
AA Change: E278G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229104
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229206
AA Change: E321G
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000229640
AA Change: N270D
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230281
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230641
AA Change: E342G
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230836
AA Change: N266D
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein, which is involved in the increase in intracellular calcium concentration that occurs upon cell adhesion to extracellular matrix. The encoded protein is also a receptor for the C-terminal cell binding domain of thrombospondin, and it may play a role in membrane transport and signal transduction. This gene has broad tissue distribution, and is reduced in expression on Rh erythrocytes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous mutation of this gene results in a reduced CD3+ fraction of peripheral lymphocytes and inability to clear infection by E.coli. Mutant animals are otherwise normal in appearance, survival, and fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,581,613 (GRCm39) |
N4810K |
probably benign |
Het |
| Arhgap26 |
A |
T |
18: 39,360,465 (GRCm39) |
I397F |
probably damaging |
Het |
| Arhgap35 |
A |
G |
7: 16,299,038 (GRCm39) |
V9A |
probably benign |
Het |
| Asl |
A |
G |
5: 130,053,133 (GRCm39) |
|
probably null |
Het |
| Atg2a |
T |
A |
19: 6,300,208 (GRCm39) |
L672Q |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,809,694 (GRCm39) |
D316G |
probably damaging |
Het |
| Bpifb2 |
A |
G |
2: 153,717,832 (GRCm39) |
|
probably benign |
Het |
| Ccl1 |
T |
C |
11: 82,070,519 (GRCm39) |
I18V |
probably benign |
Het |
| Cilp |
G |
A |
9: 65,187,129 (GRCm39) |
G1075S |
probably damaging |
Het |
| Eml2 |
T |
C |
7: 18,934,537 (GRCm39) |
V604A |
probably benign |
Het |
| Fancm |
A |
T |
12: 65,163,197 (GRCm39) |
R1454* |
probably null |
Het |
| Gm4302 |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
10: 100,177,361 (GRCm39) |
|
probably benign |
Het |
| Gm4302 |
GCA |
GCACCA |
10: 100,177,377 (GRCm39) |
|
probably benign |
Het |
| Gm4302 |
CAG |
CAGAAG |
10: 100,177,369 (GRCm39) |
|
probably benign |
Het |
| Hif1a |
T |
C |
12: 73,975,055 (GRCm39) |
M147T |
possibly damaging |
Het |
| Hps5 |
C |
G |
7: 46,433,058 (GRCm39) |
A221P |
probably damaging |
Het |
| Lrrc49 |
A |
G |
9: 60,587,431 (GRCm39) |
S67P |
probably damaging |
Het |
| Madd |
T |
A |
2: 91,000,202 (GRCm39) |
N568I |
probably damaging |
Het |
| Meikin |
T |
C |
11: 54,302,712 (GRCm39) |
S375P |
possibly damaging |
Het |
| Mfsd6 |
G |
T |
1: 52,747,912 (GRCm39) |
Q318K |
probably damaging |
Het |
| Mis18a |
A |
T |
16: 90,518,644 (GRCm39) |
I106N |
probably damaging |
Het |
| Myl2 |
T |
C |
5: 122,243,140 (GRCm39) |
I148T |
probably benign |
Het |
| Myrf |
T |
C |
19: 10,193,842 (GRCm39) |
Q730R |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,325,708 (GRCm39) |
L560P |
probably damaging |
Het |
| Npat |
A |
G |
9: 53,467,899 (GRCm39) |
T285A |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 77,954,120 (GRCm39) |
D547V |
probably benign |
Het |
| Obox2 |
G |
T |
7: 15,131,245 (GRCm39) |
S117I |
probably benign |
Het |
| Or8k32 |
A |
G |
2: 86,369,109 (GRCm39) |
L48P |
probably damaging |
Het |
| Parva |
T |
A |
7: 112,175,656 (GRCm39) |
N226K |
possibly damaging |
Het |
| Pcdha3 |
T |
A |
18: 37,080,416 (GRCm39) |
L386* |
probably null |
Het |
| Ppip5k1 |
A |
G |
2: 121,142,417 (GRCm39) |
F1323S |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,594,936 (GRCm39) |
V2771A |
probably benign |
Het |
| Prl7c1 |
T |
C |
13: 27,962,827 (GRCm39) |
T59A |
possibly damaging |
Het |
| Rab15 |
T |
C |
12: 76,851,257 (GRCm39) |
T20A |
probably benign |
Het |
| Rp1l1 |
A |
G |
14: 64,269,301 (GRCm39) |
E1629G |
probably benign |
Het |
| Rpap1 |
A |
T |
2: 119,608,657 (GRCm39) |
L235Q |
probably damaging |
Het |
| Sema3a |
A |
T |
5: 13,505,511 (GRCm39) |
I91F |
possibly damaging |
Het |
| Snx6 |
T |
C |
12: 54,810,386 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Speer4f2 |
T |
G |
5: 17,580,765 (GRCm39) |
M114R |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,370,388 (GRCm39) |
D264G |
possibly damaging |
Het |
| Tbl1xr1 |
T |
G |
3: 22,257,368 (GRCm39) |
N410K |
possibly damaging |
Het |
| Tmed7 |
A |
T |
18: 46,726,532 (GRCm39) |
D74E |
probably damaging |
Het |
| Upk3b |
T |
C |
5: 136,068,001 (GRCm39) |
V64A |
probably benign |
Het |
| Vmn2r29 |
A |
G |
7: 7,244,863 (GRCm39) |
V337A |
probably benign |
Het |
| Yy1 |
C |
G |
12: 108,780,682 (GRCm39) |
P352A |
probably damaging |
Het |
| Zfp1005 |
C |
T |
2: 150,108,406 (GRCm39) |
L56F |
possibly damaging |
Het |
| Zfp873 |
T |
C |
10: 81,896,529 (GRCm39) |
I457T |
probably benign |
Het |
|
| Other mutations in Cd47 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03253:Cd47
|
APN |
16 |
49,714,561 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0675:Cd47
|
UTSW |
16 |
49,727,162 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1374:Cd47
|
UTSW |
16 |
49,714,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1651:Cd47
|
UTSW |
16 |
49,714,591 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1712:Cd47
|
UTSW |
16 |
49,714,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1803:Cd47
|
UTSW |
16 |
49,688,169 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3720:Cd47
|
UTSW |
16 |
49,688,205 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3722:Cd47
|
UTSW |
16 |
49,688,205 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4525:Cd47
|
UTSW |
16 |
49,688,155 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5366:Cd47
|
UTSW |
16 |
49,716,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7219:Cd47
|
UTSW |
16 |
49,728,440 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7470:Cd47
|
UTSW |
16 |
49,704,585 (GRCm39) |
missense |
|
|
|
R8068:Cd47
|
UTSW |
16 |
49,715,779 (GRCm39) |
missense |
|
|
|
R8554:Cd47
|
UTSW |
16 |
49,688,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8772:Cd47
|
UTSW |
16 |
49,704,575 (GRCm39) |
missense |
|
|
|
R9329:Cd47
|
UTSW |
16 |
49,716,731 (GRCm39) |
missense |
|
|
|
R9447:Cd47
|
UTSW |
16 |
49,715,822 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAAAAGGCTAATGATTTGCCTG -3'
(R):5'- GCCCCTAGTTGAGTAGAAACAATAG -3'
Sequencing Primer
(F):5'- AGGCTAATGATTTGCCTGATTTC -3'
(R):5'- GGGATTCCAATTGGTTACACAGCAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation