Mutagenetix > Incidental Mutation

Incidental Mutation 'R7714:Cd226'

594821

Institutional Source

Beutler Lab

Gene Symbol

Cd226

Ensembl Gene

ENSMUSG00000034028

Gene Name

CD226 antigen

Synonyms

DNAM1, DNAM-1, TLiSA1, Pta1

MMRRC Submission

045772-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7714 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89195091-89290353 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89265433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 237 (V237A)

Ref Sequence

ENSEMBL: ENSMUSP00000043551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037142] [ENSMUST00000097496]

AlphaFold

Q8K4F0

Predicted Effect

probably damaging
Transcript: ENSMUST00000037142
AA Change: V237A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043551
Gene: ENSMUSG00000034028
AA Change: V237A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	22	126	4.46e-1	SMART
IG	138	243	9.26e-8	SMART
transmembrane domain	252	274	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000097496
AA Change: V124A

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

SMART Domains

Protein: ENSMUSP00000095104
Gene: ENSMUSG00000034028
AA Change: V124A

Domain	Start	End	E-Value	Type
IG	25	130	9.26e-8	SMART
transmembrane domain	139	161	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired NK cell cytolysis and increased incidence of tumor formation and mortality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	G	5: 8,167,587 (GRCm39)		probably null	Het
Agrn	C	A	4: 156,279,854 (GRCm39)	D106Y	probably damaging	Het
Arfgap3	A	T	15: 83,192,352 (GRCm39)	Y416N	probably benign	Het
Atp6v0a2	C	T	5: 124,775,533 (GRCm39)	T135M	probably damaging	Het
Bach1	C	A	16: 87,515,736 (GRCm39)	Y92*	probably null	Het
Catsperg1	A	C	7: 28,884,907 (GRCm39)	C905G	probably null	Het
Cbr2	T	C	11: 120,620,628 (GRCm39)	I219V	probably benign	Het
Ccdc3	A	T	2: 5,233,908 (GRCm39)	K244I	probably damaging	Het
Chek2	T	C	5: 110,989,319 (GRCm39)	C81R	probably benign	Het
Col27a1	T	C	4: 63,242,723 (GRCm39)		probably null	Het
Cracdl	T	A	1: 37,663,858 (GRCm39)	Q680L	probably benign	Het
Crybg3	A	T	16: 59,379,236 (GRCm39)	S673T	probably benign	Het
Csmd2	T	A	4: 128,276,743 (GRCm39)	Y848*	probably null	Het
Dgkb	C	A	12: 38,680,592 (GRCm39)	T764K	probably damaging	Het
Dock4	T	A	12: 40,775,648 (GRCm39)	C530*	probably null	Het
Dpyd	A	G	3: 118,597,780 (GRCm39)	K254R	probably benign	Het
Dstyk	C	T	1: 132,384,614 (GRCm39)	P703S	possibly damaging	Het
Ehhadh	A	T	16: 21,585,140 (GRCm39)	I247N	probably damaging	Het
Fer1l5	T	G	1: 36,440,558 (GRCm39)	L597R	probably damaging	Het
Fignl1	T	C	11: 11,752,842 (GRCm39)	E71G	probably damaging	Het
Fnip2	A	C	3: 79,425,421 (GRCm39)	V58G	probably damaging	Het
Gapdhs	A	T	7: 30,431,349 (GRCm39)	I377N	probably damaging	Het
Gcn1	C	T	5: 115,733,359 (GRCm39)	A1059V	probably damaging	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Grik2	A	C	10: 49,295,792 (GRCm39)	I392S	probably damaging	Het
Hoxb3	T	C	11: 96,236,606 (GRCm39)	L228P	probably damaging	Het
Iws1	A	T	18: 32,223,568 (GRCm39)	M659L	probably benign	Het
Kmt2c	A	G	5: 25,580,364 (GRCm39)	C570R	probably benign	Het
Lamc3	T	A	2: 31,812,279 (GRCm39)		probably null	Het
Lipf	G	A	19: 33,943,048 (GRCm39)	G119R	probably damaging	Het
Lrrc37	T	C	11: 103,507,719 (GRCm39)	I1416M	unknown	Het
Magel2	A	T	7: 62,028,130 (GRCm39)	I345L	probably benign	Het
Mdn1	G	A	4: 32,722,360 (GRCm39)	A2381T	possibly damaging	Het
Med12l	T	C	3: 59,001,007 (GRCm39)	V690A	probably benign	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,427,071 (GRCm39)		probably benign	Het
Mob3b	A	G	4: 35,083,872 (GRCm39)	Y106H	probably damaging	Het
Myo1c	T	C	11: 75,549,519 (GRCm39)	Y166H	probably damaging	Het
Ndst4	A	T	3: 125,364,493 (GRCm39)	H390L	probably benign	Het
Nt5c1b	T	A	12: 10,425,472 (GRCm39)	N280K	probably damaging	Het
Or10aa1	G	A	1: 173,869,900 (GRCm39)	R128H	probably benign	Het
Or5b116	A	T	19: 13,423,252 (GRCm39)	N292I	probably damaging	Het
Otof	A	G	5: 30,527,597 (GRCm39)	F1947L	probably damaging	Het
Pabpc4	G	A	4: 123,189,102 (GRCm39)	A481T	probably benign	Het
Parm1	C	T	5: 91,741,791 (GRCm39)	T53I	possibly damaging	Het
Pilra	C	T	5: 137,833,679 (GRCm39)	R129Q	probably benign	Het
Pkd1	C	T	17: 24,769,250 (GRCm39)	A5V	unknown	Het
Pmch	T	C	10: 87,927,242 (GRCm39)	S82P	probably benign	Het
Prf1	G	A	10: 61,135,934 (GRCm39)	R70H	possibly damaging	Het
Rad51c	T	C	11: 87,292,276 (GRCm39)	S180G	probably benign	Het
Rassf8	A	C	6: 145,760,973 (GRCm39)	T100P	probably damaging	Het
Rnpepl1	A	G	1: 92,844,890 (GRCm39)	E394G	probably damaging	Het
Rufy2	T	A	10: 62,838,772 (GRCm39)	V418E	probably benign	Het
Sdad1	A	T	5: 92,450,538 (GRCm39)	V199D	probably damaging	Het
Sptbn4	A	T	7: 27,063,761 (GRCm39)	S2227T	probably benign	Het
Tac4	A	G	11: 95,156,116 (GRCm39)	M66V	probably benign	Het
Tas2r126	T	C	6: 42,412,031 (GRCm39)	V188A	probably benign	Het
Tcerg1	T	C	18: 42,694,000 (GRCm39)	V707A	possibly damaging	Het
Tmem273	A	G	14: 32,527,129 (GRCm39)	E32G	possibly damaging	Het
Trav13d-4	G	A	14: 53,995,355 (GRCm39)	G103D	probably damaging	Het
Trav8d-1	A	G	14: 53,016,380 (GRCm39)	S89G	probably benign	Het
Ttll4	C	T	1: 74,718,572 (GRCm39)	S141L	probably benign	Het
Vash1	T	C	12: 86,738,614 (GRCm39)	S354P	probably benign	Het
Vmn2r40	T	A	7: 8,911,116 (GRCm39)	I726F		Het
Vmn2r53	A	C	7: 12,340,418 (GRCm39)	N18K	probably damaging	Het
Wnt6	T	C	1: 74,823,422 (GRCm39)	F253S	probably damaging	Het
Zfp599	A	G	9: 22,161,811 (GRCm39)	I118T	probably benign	Het

Other mutations in Cd226

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01682:Cd226	APN	18	89,287,187 (GRCm39)	missense	probably damaging	1.00
IGL02292:Cd226	APN	18	89,225,216 (GRCm39)	missense	possibly damaging	0.55
IGL02298:Cd226	APN	18	89,225,175 (GRCm39)	missense	probably damaging	1.00
IGL02408:Cd226	APN	18	89,225,451 (GRCm39)	missense	probably benign
R0179:Cd226	UTSW	18	89,225,263 (GRCm39)	missense	probably benign	0.00
R0558:Cd226	UTSW	18	89,225,338 (GRCm39)	missense	probably benign	0.30
R0602:Cd226	UTSW	18	89,287,135 (GRCm39)	missense	probably benign	0.00
R0744:Cd226	UTSW	18	89,225,144 (GRCm39)	intron	probably benign
R0833:Cd226	UTSW	18	89,225,144 (GRCm39)	intron	probably benign
R1125:Cd226	UTSW	18	89,286,046 (GRCm39)	missense	probably benign
R1352:Cd226	UTSW	18	89,265,298 (GRCm39)	missense	probably damaging	1.00
R1355:Cd226	UTSW	18	89,265,147 (GRCm39)	missense	probably benign	0.10
R1370:Cd226	UTSW	18	89,265,147 (GRCm39)	missense	probably benign	0.10
R1998:Cd226	UTSW	18	89,225,343 (GRCm39)	missense	probably damaging	1.00
R2004:Cd226	UTSW	18	89,265,435 (GRCm39)	missense	probably benign	0.03
R2006:Cd226	UTSW	18	89,265,435 (GRCm39)	missense	probably benign	0.03
R2045:Cd226	UTSW	18	89,225,486 (GRCm39)	missense	probably benign	0.10
R2354:Cd226	UTSW	18	89,265,107 (GRCm39)	critical splice acceptor site	probably null
R2518:Cd226	UTSW	18	89,225,451 (GRCm39)	missense	probably benign
R4603:Cd226	UTSW	18	89,225,343 (GRCm39)	missense	probably damaging	1.00
R4804:Cd226	UTSW	18	89,225,292 (GRCm39)	missense	possibly damaging	0.89
R5964:Cd226	UTSW	18	89,225,307 (GRCm39)	missense	probably benign	0.02
R5999:Cd226	UTSW	18	89,225,343 (GRCm39)	missense	probably damaging	1.00
R7205:Cd226	UTSW	18	89,265,322 (GRCm39)	missense	probably damaging	1.00
R7456:Cd226	UTSW	18	89,224,747 (GRCm39)	missense	probably damaging	0.96
R7509:Cd226	UTSW	18	89,265,195 (GRCm39)	missense	probably benign	0.10
R9127:Cd226	UTSW	18	89,287,155 (GRCm39)	missense	probably damaging	1.00
R9561:Cd226	UTSW	18	89,265,444 (GRCm39)	missense	probably benign	0.06
R9651:Cd226	UTSW	18	89,265,395 (GRCm39)	nonsense	probably null
X0024:Cd226	UTSW	18	89,281,409 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCCTGTAACCTATCTCAAGAGACA -3'
(R):5'- ACAAACACTTGTGCATGGGTAA -3'

Sequencing Primer
(F):5'- GAGACAAGATACACTTCAAAGTACC -3'
(R):5'- CTTGTGCATGGGTAAACACAC -3'

Posted On

2019-11-12