Mutagenetix > Incidental Mutations

Incidental Mutation 'R0558:Cd226'

45771

Institutional Source

Beutler Lab

Gene Symbol

Cd226

Ensembl Gene

ENSMUSG00000034028

Gene Name

CD226 antigen

Synonyms

TLiSA1, DNAM-1, Pta1, DNAM1

MMRRC Submission

038750-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0558 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89197431-89270201 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89207214 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 78 (H78Q)

Ref Sequence

ENSEMBL: ENSMUSP00000043551 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000037142
AA Change: H78Q

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043551
Gene: ENSMUSG00000034028
AA Change: H78Q

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 benign
Transcript: ENSMUST00000097496

SMART Domains

Protein: ENSMUSP00000095104
Gene: ENSMUSG00000034028

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (80/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	T	C	17: 25,947,549	N338S	probably benign	Het
Abcc2	G	A	19: 43,800,724	G273R	probably benign	Het
Adamts10	T	C	17: 33,550,609	V935A	probably benign	Het
Anapc15-ps	T	C	10: 95,673,121	D90G	probably damaging	Het
Atic	T	A	1: 71,563,788	V107E	probably benign	Het
Atp4b	T	C	8: 13,393,523	T52A	possibly damaging	Het
Cacna1h	C	T	17: 25,381,550	A1606T	probably damaging	Het
Cacng6	T	A	7: 3,434,808	Y217*	probably null	Het
Cc2d2a	T	G	5: 43,724,387		probably benign	Het
Cers3	A	G	7: 66,783,418	D161G	probably damaging	Het
Ces1f	T	C	8: 93,275,389	H37R	probably benign	Het
Chek1	T	A	9: 36,712,115	N421I	possibly damaging	Het
Cma2	T	C	14: 55,972,792	Y45H	probably damaging	Het
Cmas	C	A	6: 142,775,244	Y401*	probably null	Het
Cyp2j8	A	T	4: 96,444,634	S492T	probably benign	Het
Dnah12	T	C	14: 26,709,310	S358P	probably benign	Het
Dnajc13	T	C	9: 104,201,952		probably null	Het
Ep400	A	C	5: 110,685,067		probably benign	Het
Fam209	T	A	2: 172,472,838	N82K	probably benign	Het
Fam92a	T	C	4: 12,164,095	D248G	probably damaging	Het
G3bp2	A	T	5: 92,073,197	Y20N	probably damaging	Het
Gli2	T	C	1: 118,837,649	D924G	probably benign	Het
Gm10787	T	C	10: 77,022,016		noncoding transcript	Het
Gm11568	A	G	11: 99,858,046	R26G	unknown	Het
Gm4788	A	G	1: 139,739,492	V376A	probably damaging	Het
Hivep3	T	G	4: 120,096,566	L693R	probably damaging	Het
Hook1	A	G	4: 95,993,212		probably benign	Het
Ibtk	A	C	9: 85,737,538	D116E	probably damaging	Het
Insrr	C	T	3: 87,810,981	T927I	possibly damaging	Het
Irx1	T	G	13: 71,959,628	S312R	probably benign	Het
Itga11	T	C	9: 62,752,288	Y441H	probably benign	Het
Itsn1	A	G	16: 91,899,623	D38G	possibly damaging	Het
Kat6b	G	T	14: 21,669,421	E1280D	probably benign	Het
Kcnk10	T	A	12: 98,436,301	Y293F	possibly damaging	Het
Krt74	T	A	15: 101,760,963		noncoding transcript	Het
Lars	T	G	18: 42,214,837	I974L	probably benign	Het
Limch1	A	G	5: 66,969,155	D42G	probably damaging	Het
Mau2	G	C	8: 70,042,432	T85R	probably damaging	Het
Mkrn3	A	G	7: 62,418,864	I393T	probably benign	Het
Mpl	A	C	4: 118,444,020	S541R	probably damaging	Het
Nfrkb	T	C	9: 31,410,268	S754P	possibly damaging	Het
Olfr1170	A	G	2: 88,224,474	V186A	possibly damaging	Het
Olfr1233	A	G	2: 89,340,236	L22P	probably benign	Het
Olfr1350	T	C	7: 6,570,653	Y221H	possibly damaging	Het
Olfr1537	T	A	9: 39,238,200	T75S	probably damaging	Het
P2rx7	A	T	5: 122,673,798	I391F	possibly damaging	Het
Pbrm1	T	A	14: 31,085,059		probably null	Het
Pcdh8	T	C	14: 79,770,076	D349G	probably damaging	Het
Pias1	A	G	9: 62,882,009	S639P	possibly damaging	Het
Pkhd1l1	A	T	15: 44,484,424	I232F	probably damaging	Het
Plxnc1	C	T	10: 94,837,935	R995Q	probably damaging	Het
Pnliprp2	T	A	19: 58,774,087	S375T	probably benign	Het
Prkar1b	C	T	5: 139,020,092	V313M	probably benign	Het
Ptpn13	T	C	5: 103,529,717	S734P	probably damaging	Het
Rdh1	T	C	10: 127,759,941	W2R	possibly damaging	Het
Rsph10b	A	T	5: 143,949,338	I285L	probably benign	Het
Rubcnl	T	C	14: 75,047,547	F502S	probably damaging	Het
Ryr2	T	A	13: 11,638,443	I3693F	probably damaging	Het
Ryr2	T	C	13: 11,799,861	Y675C	probably damaging	Het
Scaper	T	C	9: 55,685,923	T477A	probably benign	Het
Scn2a	G	T	2: 65,711,925	V791L	probably benign	Het
Sdk1	A	T	5: 142,132,065	T1573S	probably damaging	Het
Sema3c	A	T	5: 17,714,415	H483L	probably benign	Het
Sema6c	T	C	3: 95,168,691	S219P	probably damaging	Het
Slc10a5	T	G	3: 10,335,117	E161A	probably damaging	Het
Slc22a23	C	T	13: 34,344,383	G139S	possibly damaging	Het
Slc34a3	C	T	2: 25,233,065		probably benign	Het
Slc38a9	A	T	13: 112,729,196		probably null	Het
Taok1	A	C	11: 77,559,844	S367R	possibly damaging	Het
Tlr6	G	A	5: 64,954,860	Q235*	probably null	Het
Top2a	A	G	11: 98,996,839	V1281A	probably benign	Het
Tpgs1	T	C	10: 79,675,782	Y253H	probably damaging	Het
Tubgcp3	T	C	8: 12,653,462	T288A	probably benign	Het
Ubr4	A	G	4: 139,426,902	E2140G	probably benign	Het
Uso1	A	G	5: 92,174,019	Q257R	probably benign	Het
Zfp106	A	G	2: 120,532,196	V48A	probably damaging	Het
Zfp174	T	A	16: 3,848,254	S128T	possibly damaging	Het
Zscan26	T	A	13: 21,445,055	D426V	probably benign	Het

Other mutations in Cd226

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01682:Cd226	APN	18	89269063	missense	probably damaging	1.00
IGL02292:Cd226	APN	18	89207092	missense	possibly damaging	0.55
IGL02298:Cd226	APN	18	89207051	missense	probably damaging	1.00
IGL02408:Cd226	APN	18	89207327	missense	probably benign
R0179:Cd226	UTSW	18	89207139	missense	probably benign	0.00
R0602:Cd226	UTSW	18	89269011	missense	probably benign	0.00
R0744:Cd226	UTSW	18	89207020	intron	probably benign
R0833:Cd226	UTSW	18	89207020	intron	probably benign
R1125:Cd226	UTSW	18	89267922	missense	probably benign
R1352:Cd226	UTSW	18	89247174	missense	probably damaging	1.00
R1355:Cd226	UTSW	18	89247023	missense	probably benign	0.10
R1370:Cd226	UTSW	18	89247023	missense	probably benign	0.10
R1998:Cd226	UTSW	18	89207219	missense	probably damaging	1.00
R2004:Cd226	UTSW	18	89247311	missense	probably benign	0.03
R2006:Cd226	UTSW	18	89247311	missense	probably benign	0.03
R2045:Cd226	UTSW	18	89207362	missense	probably benign	0.10
R2354:Cd226	UTSW	18	89246983	critical splice acceptor site	probably null
R2518:Cd226	UTSW	18	89207327	missense	probably benign
R4603:Cd226	UTSW	18	89207219	missense	probably damaging	1.00
R4804:Cd226	UTSW	18	89207168	missense	possibly damaging	0.89
R5964:Cd226	UTSW	18	89207183	missense	probably benign	0.02
R5999:Cd226	UTSW	18	89207219	missense	probably damaging	1.00
R7205:Cd226	UTSW	18	89247198	missense	probably damaging	1.00
R7456:Cd226	UTSW	18	89206623	missense	probably damaging	0.96
R7509:Cd226	UTSW	18	89247071	missense	probably benign	0.10
R7714:Cd226	UTSW	18	89247309	missense	probably damaging	1.00
X0024:Cd226	UTSW	18	89263285	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGTGGGACACAACAGTTCGGC -3'
(R):5'- TGGGAGACACTTGCACTCAGAAATG -3'

Sequencing Primer
(F):5'- AACAGTTCGGCTTTCTGAGAC -3'
(R):5'- TGCACTCAGAAATGACAGCAATTAAG -3'

Posted On

2013-06-11