Incidental Mutation 'R0022:Cd244'
ID15240
Institutional Source Beutler Lab
Gene Symbol Cd244
Ensembl Gene ENSMUSG00000004709
Gene NameCD244 natural killer cell receptor 2B4
Synonyms2B4, C9.1, F730046O15Rik, Nmrk
MMRRC Submission 038317-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #R0022 (G1)
Quality Score
Status Validated
Chromosome1
Chromosomal Location171559193-171609746 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 171573762 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 48 (D48G)
Ref Sequence ENSEMBL: ENSMUSP00000141898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004829] [ENSMUST00000194797]
Predicted Effect probably benign
Transcript: ENSMUST00000004829
AA Change: D48G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000004829
Gene: ENSMUSG00000004709
AA Change: D48G

DomainStartEndE-ValueType
IG 26 128 4.23e-2 SMART
Blast:IG_like 146 222 8e-19 BLAST
transmembrane domain 226 248 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194170
Predicted Effect probably benign
Transcript: ENSMUST00000194797
AA Change: D48G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000141898
Gene: ENSMUSG00000004709
AA Change: D48G

DomainStartEndE-ValueType
IG 26 128 4.23e-2 SMART
Pfam:Ig_2 134 221 6.5e-5 PFAM
transmembrane domain 226 248 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 82.0%
  • 3x: 74.9%
  • 10x: 56.1%
  • 20x: 37.0%
Validation Efficiency 97% (90/93)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-cell and target cells via this receptor is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered natural killer (NK) cell cytolysis. Mice homozygous for an ENU-generated allele exhibit reduced 'missing-self' targets recognition and elimination and increased clearance of B16 melanoma tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik C T 1: 37,628,245 R240Q probably damaging Het
Aste1 T A 9: 105,396,624 L21* probably null Het
Btbd10 G A 7: 113,325,781 Q287* probably null Het
Cdc20 T A 4: 118,435,489 H354L probably damaging Het
Cdhr3 G A 12: 33,082,264 T120I probably damaging Het
Chd8 A T 14: 52,232,855 S433T probably benign Het
Col1a2 G A 6: 4,518,822 probably benign Het
Col9a3 A G 2: 180,619,756 D613G probably damaging Het
Coro7 C T 16: 4,633,304 R507H probably benign Het
Csf1 A T 3: 107,753,862 V113E probably damaging Het
Dclre1b G T 3: 103,803,148 H482Q probably benign Het
Ephb6 T C 6: 41,614,569 V220A probably damaging Het
Ggct C A 6: 54,985,902 E175* probably null Het
Gm5316 T C 6: 122,900,395 noncoding transcript Het
Gzmn A G 14: 56,166,925 S152P probably damaging Het
Hoxa7 T C 6: 52,217,383 N8S probably damaging Het
Il12rb2 A G 6: 67,298,919 F630S probably damaging Het
Kit A G 5: 75,622,997 N378S probably benign Het
Lrp1b A T 2: 40,998,038 probably benign Het
Ltbp1 T A 17: 75,364,360 V1194D probably damaging Het
Mc5r T G 18: 68,338,782 S71A probably benign Het
Mcc C G 18: 44,519,516 probably benign Het
Naa25 C A 5: 121,417,976 L276M probably damaging Het
Nlrp1b T G 11: 71,161,929 K888T possibly damaging Het
Pabpc6 A T 17: 9,669,216 N135K probably benign Het
Pik3r2 A G 8: 70,770,901 F346S probably damaging Het
Pkd1 T C 17: 24,594,819 W4086R probably damaging Het
Pmfbp1 C T 8: 109,525,407 R395W probably damaging Het
Ppp1ca T G 19: 4,194,581 V213G possibly damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Rapgef2 G A 3: 79,087,900 R814C probably damaging Het
Rnasel A T 1: 153,760,775 I634F probably damaging Het
Rnf157 A T 11: 116,349,450 probably benign Het
Ryr3 A G 2: 112,640,666 S4567P probably damaging Het
Sephs1 A G 2: 4,899,560 T250A probably benign Het
Smcr8 T A 11: 60,780,359 W778R probably damaging Het
Stat1 T A 1: 52,140,630 L333Q probably damaging Het
Taar1 G T 10: 23,920,727 A108S probably benign Het
Tro C G X: 150,647,512 probably benign Het
Ubr1 A T 2: 120,961,173 probably benign Het
Other mutations in Cd244
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Cd244 APN 1 171574370 critical splice donor site probably null
IGL01014:Cd244 APN 1 171574288 missense probably damaging 1.00
IGL01689:Cd244 APN 1 171582894 intron probably benign
IGL02327:Cd244 APN 1 171559341 missense probably benign 0.36
R0930:Cd244 UTSW 1 171577233 splice site probably null
R1055:Cd244 UTSW 1 171577276 missense probably damaging 0.99
R4587:Cd244 UTSW 1 171577879 missense probably benign 0.05
R5517:Cd244 UTSW 1 171577974 splice site probably benign
R5929:Cd244 UTSW 1 171559367 missense probably damaging 1.00
R5996:Cd244 UTSW 1 171581640 splice site probably null
R6346:Cd244 UTSW 1 171577321 missense probably damaging 1.00
R6502:Cd244 UTSW 1 171577879 missense probably benign 0.05
R6612:Cd244 UTSW 1 171574104 missense probably benign 0.05
R6701:Cd244 UTSW 1 171574155 missense possibly damaging 0.67
R6973:Cd244 UTSW 1 171574207 missense probably damaging 1.00
R7655:Cd244 UTSW 1 171577255 missense probably damaging 1.00
R7656:Cd244 UTSW 1 171577255 missense probably damaging 1.00
R7672:Cd244 UTSW 1 171577285 missense probably benign 0.28
R7769:Cd244 UTSW 1 171577305 missense probably benign 0.24
RF004:Cd244 UTSW 1 171577922 missense probably benign 0.15
Z1177:Cd244 UTSW 1 171574350 missense probably damaging 1.00
Posted On2012-12-12