Mutagenetix > Incidental Mutation

Incidental Mutation 'R5366:Cd47'

429378

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

042944-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49671691-49732799 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49716736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 256 (F256L)

Ref Sequence

ENSEMBL: ENSMUSP00000099853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084838] [ENSMUST00000114496] [ENSMUST00000229101] [ENSMUST00000229104] [ENSMUST00000229206] [ENSMUST00000229640] [ENSMUST00000230281] [ENSMUST00000230836] [ENSMUST00000230641]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000084838
AA Change: F256L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099853
Gene: ENSMUSG00000055447
AA Change: F256L

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

probably damaging
Transcript: ENSMUST00000114496
AA Change: F203L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110140
Gene: ENSMUSG00000055447
AA Change: F203L

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: F203L

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229104
AA Change: F182L

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229206
AA Change: F235L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229640
AA Change: F203L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230281
AA Change: F182L

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230836
AA Change: F199L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230641
AA Change: F256L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231187

Meta Mutation Damage Score

0.2929

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

100% (77/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,831,665 (GRCm39)	N1229S	possibly damaging	Het
Adgre1	G	A	17: 57,709,817 (GRCm39)	C158Y	probably benign	Het
Ahnak	T	A	19: 8,994,099 (GRCm39)	S5128T	possibly damaging	Het
Ankrd36	T	A	11: 5,542,841 (GRCm39)	C322*	probably null	Het
Ano1	T	A	7: 144,207,946 (GRCm39)	T113S	possibly damaging	Het
Apeh	A	T	9: 107,969,005 (GRCm39)	S321T	probably benign	Het
Atg4d	T	A	9: 21,179,948 (GRCm39)	V273D	probably damaging	Het
Cacna2d4	A	G	6: 119,251,279 (GRCm39)	D489G	probably damaging	Het
Cd84	A	T	1: 171,700,872 (GRCm39)	D211V	probably damaging	Het
Cfap46	A	G	7: 139,230,802 (GRCm39)	L942P	probably damaging	Het
Cfh	A	C	1: 140,063,973 (GRCm39)	C434W	probably damaging	Het
Chst2	T	C	9: 95,287,518 (GRCm39)	D276G	probably damaging	Het
Ctsq	T	C	13: 61,184,913 (GRCm39)	T258A	probably benign	Het
Degs1	C	A	1: 182,106,927 (GRCm39)	D111Y	probably benign	Het
Dhps	T	A	8: 85,801,413 (GRCm39)	D313E	probably damaging	Het
Dipk1c	T	A	18: 84,748,720 (GRCm39)	L106Q	probably damaging	Het
Dock9	A	G	14: 121,815,615 (GRCm39)	C1645R	probably damaging	Het
Efcab7	A	C	4: 99,761,931 (GRCm39)	D407A	possibly damaging	Het
Eif3a	G	T	19: 60,767,971 (GRCm39)	T189N	probably benign	Het
Ep300	T	A	15: 81,500,301 (GRCm39)	L57M	probably benign	Het
Exoc6b	T	A	6: 84,867,513 (GRCm39)	I300L	probably benign	Het
Fzd8	T	C	18: 9,213,880 (GRCm39)	S321P	probably damaging	Het
Garre1	A	T	7: 33,941,713 (GRCm39)	M657K	possibly damaging	Het
Gm9920	T	A	15: 54,975,705 (GRCm39)		probably benign	Het
Gucy2c	A	G	6: 136,697,739 (GRCm39)	I668T	probably damaging	Het
Irgc	C	T	7: 24,132,851 (GRCm39)		probably benign	Het
Jsrp1	G	T	10: 80,646,030 (GRCm39)	S143*	probably null	Het
Kctd4	T	C	14: 76,200,259 (GRCm39)	Y77H	probably damaging	Het
Klhdc1	T	A	12: 69,329,924 (GRCm39)	I351N	probably damaging	Het
Klra17	C	T	6: 129,851,858 (GRCm39)	E5K	possibly damaging	Het
Mapk8	A	T	14: 33,112,686 (GRCm39)	V211E	probably damaging	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Mrc1	T	C	2: 14,326,725 (GRCm39)	Y1208H	probably benign	Het
Mrps16	A	T	14: 20,441,523 (GRCm39)	S94T	probably benign	Het
Muc5ac	A	G	7: 141,361,287 (GRCm39)	T1533A	probably benign	Het
Myh10	A	T	11: 68,651,518 (GRCm39)	D287V	probably damaging	Het
Obscn	T	C	11: 58,971,086 (GRCm39)	T2476A	probably damaging	Het
Olfm2	T	A	9: 20,579,708 (GRCm39)	T356S	probably benign	Het
Or4f60	T	C	2: 111,902,823 (GRCm39)	Y35C	possibly damaging	Het
P2rx2	T	A	5: 110,489,694 (GRCm39)	N108I	probably damaging	Het
Pbx4	A	T	8: 70,322,820 (GRCm39)	T309S	probably benign	Het
Phyhip	C	A	14: 70,704,295 (GRCm39)	H171Q	probably benign	Het
Pou4f3	A	G	18: 42,528,819 (GRCm39)	E254G	probably damaging	Het
Pxdn	C	A	12: 30,052,899 (GRCm39)	H845Q	probably damaging	Het
Rgcc	T	C	14: 79,529,123 (GRCm39)	T111A	probably benign	Het
Rptor	G	A	11: 119,734,539 (GRCm39)	G514D	probably damaging	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Sgsm1	C	A	5: 113,398,905 (GRCm39)	E722D	possibly damaging	Het
Soat1	A	T	1: 156,272,181 (GRCm39)	D101E	probably benign	Het
Spag5	T	A	11: 78,211,152 (GRCm39)		probably null	Het
Spata31	A	T	13: 65,068,273 (GRCm39)	E140D	probably damaging	Het
Srrm2	T	A	17: 24,037,678 (GRCm39)	S1537T	probably benign	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tbc1d4	G	T	14: 101,845,412 (GRCm39)	T162K	possibly damaging	Het
Tmem163	A	C	1: 127,428,042 (GRCm39)		probably benign	Het
Tmem43	T	C	6: 91,455,240 (GRCm39)	V72A	probably benign	Het
Tmprss11c	G	A	5: 86,429,993 (GRCm39)	T24I	possibly damaging	Het
Trerf1	A	T	17: 47,626,116 (GRCm39)		noncoding transcript	Het
Trim44	A	G	2: 102,230,476 (GRCm39)	L185P	probably damaging	Het
Tspyl1	A	G	10: 34,158,341 (GRCm39)	D22G	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tyro3	G	A	2: 119,635,312 (GRCm39)	R201Q	probably damaging	Het
Ubxn2a	T	A	12: 4,930,741 (GRCm39)	K206N	probably benign	Het
Usp17lb	G	T	7: 104,489,615 (GRCm39)	H436Q	possibly damaging	Het
Vps9d1	A	G	8: 123,971,853 (GRCm39)	I584T	possibly damaging	Het
Vrk1	T	A	12: 106,022,078 (GRCm39)	M131K	possibly damaging	Het
Wdr87-ps	A	C	7: 29,232,964 (GRCm39)		noncoding transcript	Het
Zfp827	A	T	8: 79,912,333 (GRCm39)	K986N	possibly damaging	Het
Zswim4	A	G	8: 84,939,419 (GRCm39)	M821T	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
R6878:Cd47	UTSW	16	49,731,232 (GRCm39)	missense	possibly damaging	0.82
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'- TGGAGCTGACATTCCTATGC -3'
(R):5'- ACCAGTGCGAATGCTTAGGG -3'

Sequencing Primer
(F):5'- CTGACATTCCTATGCGAAGGTTAGC -3'
(R):5'- GGTAACTCTCTGTACTTTCCACTAGG -3'

Posted On

2016-09-06