Incidental Mutation 'R9561:Cd226'
ID 721037
Institutional Source Beutler Lab
Gene Symbol Cd226
Ensembl Gene ENSMUSG00000034028
Gene Name CD226 antigen
Synonyms DNAM1, DNAM-1, TLiSA1, Pta1
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9561 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 89195091-89290353 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 89265444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 241 (I241L)
Ref Sequence ENSEMBL: ENSMUSP00000043551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037142] [ENSMUST00000097496]
AlphaFold Q8K4F0
Predicted Effect probably benign
Transcript: ENSMUST00000037142
AA Change: I241L

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000043551
Gene: ENSMUSG00000034028
AA Change: I241L

DomainStartEndE-ValueType
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
AA Change: I128L

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000095104
Gene: ENSMUSG00000034028
AA Change: I128L

DomainStartEndE-ValueType
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
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,680,980 (GRCm39) I106V possibly damaging Het
Aars1 C A 8: 111,763,615 (GRCm39) F18L probably damaging Het
Abca7 C T 10: 79,837,535 (GRCm39) T473I probably damaging Het
Ap1m2 A T 9: 21,209,524 (GRCm39) I384N probably damaging Het
Atg16l2 G A 7: 100,948,248 (GRCm39) Q99* probably null Het
Bptf A T 11: 106,964,954 (GRCm39) Y1413* probably null Het
Cat T C 2: 103,307,250 (GRCm39) T28A probably damaging Het
Ccdc65 T A 15: 98,620,759 (GRCm39) V418D probably benign Het
Crybg1 A G 10: 43,873,428 (GRCm39) S1227P probably benign Het
Csn2 C T 5: 87,842,794 (GRCm39) A78T probably benign Het
Cyp21a1 T A 17: 35,021,652 (GRCm39) H305L possibly damaging Het
Ddx55 A G 5: 124,706,707 (GRCm39) E572G possibly damaging Het
Dguok A G 6: 83,467,548 (GRCm39) Y100H probably damaging Het
Dync1h1 T A 12: 110,615,533 (GRCm39) S2955R probably damaging Het
Etfbkmt A T 6: 149,045,640 (GRCm39) probably benign Het
Fam222a T A 5: 114,749,347 (GRCm39) I181N probably damaging Het
Fam24b T C 7: 130,927,877 (GRCm39) D104G probably benign Het
Fbn2 A T 18: 58,181,611 (GRCm39) C1883* probably null Het
Fchsd2 T G 7: 100,920,778 (GRCm39) L461R probably benign Het
Hdgfl1 C T 13: 26,953,239 (GRCm39) G278E probably damaging Het
Hectd4 G A 5: 121,472,532 (GRCm39) R2756Q possibly damaging Het
Ints14 A G 9: 64,882,932 (GRCm39) D261G probably damaging Het
Mapkapk5 C T 5: 121,672,490 (GRCm39) A163T probably benign Het
Micu3 A T 8: 40,835,156 (GRCm39) K504* probably null Het
Myh1 C G 11: 67,108,618 (GRCm39) H1345D possibly damaging Het
Myh7 C A 14: 55,216,146 (GRCm39) R1289L probably damaging Het
Neb G T 2: 52,132,068 (GRCm39) H280Q Het
Nrbp1 T A 5: 31,404,771 (GRCm39) probably null Het
Oacyl T A 18: 65,831,414 (GRCm39) V17D possibly damaging Het
Obsl1 C A 1: 75,480,157 (GRCm39) R463L possibly damaging Het
Or1f19 T A 16: 3,410,725 (GRCm39) L155Q probably damaging Het
Or8b40 G A 9: 38,028,010 (GRCm39) S311N probably benign Het
Pcnt A T 10: 76,217,128 (GRCm39) C2184* probably null Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Phrf1 T G 7: 140,834,815 (GRCm39) S198A unknown Het
Plekhg2 C G 7: 28,064,249 (GRCm39) A431P probably damaging Het
Ppp1r13b C T 12: 111,810,077 (GRCm39) D244N probably damaging Het
Raph1 T C 1: 60,564,887 (GRCm39) E200G possibly damaging Het
Rnf6 A G 5: 146,147,936 (GRCm39) S361P probably benign Het
Scgb2b19 G A 7: 32,978,039 (GRCm39) A86V probably benign Het
Sec23b T A 2: 144,408,728 (GRCm39) C138S possibly damaging Het
Slco1c1 T C 6: 141,505,606 (GRCm39) S511P possibly damaging Het
Tas2r130 A G 6: 131,607,175 (GRCm39) S207P probably damaging Het
Tdpoz1 A T 3: 93,578,540 (GRCm39) H81Q probably benign Het
Usp8 A G 2: 126,578,414 (GRCm39) K289E probably damaging Het
Vmn1r18 A C 6: 57,367,202 (GRCm39) N117K probably benign Het
Vps13c G T 9: 67,872,794 (GRCm39) G3270V probably damaging Het
Wdr20 A G 12: 110,760,187 (GRCm39) T358A probably benign Het
Wwc1 A C 11: 35,870,796 (GRCm39) probably null Het
Yars2 G T 16: 16,127,242 (GRCm39) V436L possibly damaging Het
Zfp609 G A 9: 65,604,512 (GRCm39) Q1324* probably null Het
Zfp81 T C 17: 33,553,774 (GRCm39) T347A probably benign Het
Zgpat T C 2: 181,021,366 (GRCm39) V292A probably benign Het
Other mutations in Cd226
AlleleSourceChrCoordTypePredicted EffectPPH 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
R7714:Cd226 UTSW 18 89,265,433 (GRCm39) missense probably damaging 1.00
R9127:Cd226 UTSW 18 89,287,155 (GRCm39) missense probably damaging 1.00
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'- TCCTGTAACCTATCTCAAGAGACAAG -3'
(R):5'- ACAAACACTTGTGCATGGGTAA -3'

Sequencing Primer
(F):5'- GAGACAAGATACACTTCAAAGTACC -3'
(R):5'- CTTGTGCATGGGTAAACACAC -3'
Posted On 2022-08-09