Incidental Mutation 'R5517:Cd244a'
ID 431321
Institutional Source Beutler Lab
Gene Symbol Cd244a
Ensembl Gene ENSMUSG00000004709
Gene Name CD244 molecule A
Synonyms Cd244, Nmrk, C9.1, F730046O15Rik, 2B4
MMRRC Submission 043076-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R5517 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 171386287-171412884 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 171405542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004829] [ENSMUST00000194797]
AlphaFold Q07763
Predicted Effect probably benign
Transcript: ENSMUST00000004829
SMART Domains Protein: ENSMUSP00000004829
Gene: ENSMUSG00000004709

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
SMART Domains Protein: ENSMUSP00000141898
Gene: ENSMUSG00000004709

IG 26 128 4.23e-2 SMART
Pfam:Ig_2 134 221 6.5e-5 PFAM
transmembrane domain 226 248 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195804
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.2%
  • 20x: 90.5%
Validation Efficiency 99% (67/68)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 C T 17: 36,269,233 (GRCm39) R675K possibly damaging Het
Aire A T 10: 77,875,525 (GRCm39) S282T probably benign Het
Ak9 A G 10: 41,216,887 (GRCm39) E283G probably benign Het
Akap9 T A 5: 4,051,665 (GRCm39) D1477E possibly damaging Het
Ap2a1 T C 7: 44,556,405 (GRCm39) D273G possibly damaging Het
Apob T C 12: 8,040,906 (GRCm39) L664P probably damaging Het
Arhgap35 A T 7: 16,297,414 (GRCm39) F550L probably damaging Het
Armc2 T C 10: 41,839,846 (GRCm39) E373G probably benign Het
Atp8b2 C A 3: 89,853,338 (GRCm39) A726S probably benign Het
C030048H21Rik T A 2: 26,145,899 (GRCm39) Q87L probably damaging Het
Cdk10 T A 8: 123,957,326 (GRCm39) probably null Het
Cenpe C A 3: 134,929,026 (GRCm39) P310Q probably damaging Het
Chuk T A 19: 44,085,972 (GRCm39) probably null Het
Crebl2 T C 6: 134,828,139 (GRCm39) S104P probably benign Het
Ddo A G 10: 40,523,726 (GRCm39) K239E probably benign Het
Defb5 A G 8: 19,300,868 (GRCm39) probably null Het
Dhx35 T A 2: 158,676,832 (GRCm39) M422K probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Gatm G A 2: 122,426,024 (GRCm39) T409I probably damaging Het
Gdpd1 A T 11: 86,950,332 (GRCm39) D80E probably damaging Het
Gspt1 C A 16: 11,071,843 (GRCm39) G7C unknown Het
Hells G A 19: 38,943,244 (GRCm39) S516N probably benign Het
Ints1 A G 5: 139,738,542 (GRCm39) S2069P possibly damaging Het
Kank4 G A 4: 98,663,118 (GRCm39) T690M probably damaging Het
Kcnq4 T C 4: 120,573,006 (GRCm39) N265S possibly damaging Het
Kif5b C A 18: 6,220,954 (GRCm39) A385S probably benign Het
Map2 T C 1: 66,454,415 (GRCm39) S1102P probably benign Het
Mcm7 A G 5: 138,163,133 (GRCm39) S340P possibly damaging Het
Mcrs1 C T 15: 99,144,876 (GRCm39) R246H possibly damaging Het
Myo16 T A 8: 10,610,226 (GRCm39) M1189K probably benign Het
Or4d2 A T 11: 87,783,892 (GRCm39) I286N probably damaging Het
Or4k52 G T 2: 111,610,804 (GRCm39) M46I probably benign Het
Or7g29 G A 9: 19,287,063 (GRCm39) T38I probably damaging Het
Otog A G 7: 45,923,995 (GRCm39) N1118S probably damaging Het
Pakap T C 4: 57,855,987 (GRCm39) Y439H probably damaging Het
Pcdhb7 G T 18: 37,474,846 (GRCm39) probably benign Het
Picalm C T 7: 89,819,806 (GRCm39) T189I possibly damaging Het
Ptx4 T A 17: 25,343,760 (GRCm39) S337T possibly damaging Het
Rad51ap2 C T 12: 11,508,313 (GRCm39) S745L probably benign Het
Rspry1 G A 8: 95,363,388 (GRCm39) probably null Het
Scn5a T G 9: 119,324,779 (GRCm39) I1350L probably damaging Het
Sgk2 T C 2: 162,839,755 (GRCm39) L121P probably damaging Het
Slc17a1 A T 13: 24,056,575 (GRCm39) probably benign Het
Slc6a12 A G 6: 121,331,298 (GRCm39) N183S probably benign Het
Smg9 C A 7: 24,114,338 (GRCm39) probably benign Het
Spred1 G A 2: 117,008,195 (GRCm39) S367N probably damaging Het
Srpra T C 9: 35,122,646 (GRCm39) V21A probably benign Het
Taar2 A T 10: 23,816,627 (GRCm39) I56F possibly damaging Het
Taf1a T G 1: 183,177,323 (GRCm39) L67R probably damaging Het
Tbc1d10b C A 7: 126,797,779 (GRCm39) R787S possibly damaging Het
Topbp1 T A 9: 103,213,313 (GRCm39) N1044K probably benign Het
Usp24 A G 4: 106,232,871 (GRCm39) T886A probably benign Het
Vmn2r26 A G 6: 124,027,676 (GRCm39) D472G probably damaging Het
Zyg11a T C 4: 108,061,943 (GRCm39) N286S possibly damaging Het
Other mutations in Cd244a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Cd244a APN 1 171,401,938 (GRCm39) critical splice donor site probably null
IGL01014:Cd244a APN 1 171,401,856 (GRCm39) missense probably damaging 1.00
IGL01689:Cd244a APN 1 171,410,462 (GRCm39) intron probably benign
IGL02327:Cd244a APN 1 171,386,909 (GRCm39) missense probably benign 0.36
R0022:Cd244a UTSW 1 171,401,330 (GRCm39) missense probably benign 0.03
R0930:Cd244a UTSW 1 171,404,801 (GRCm39) splice site probably null
R1055:Cd244a UTSW 1 171,404,844 (GRCm39) missense probably damaging 0.99
R4587:Cd244a UTSW 1 171,405,447 (GRCm39) missense probably benign 0.05
R5929:Cd244a UTSW 1 171,386,935 (GRCm39) missense probably damaging 1.00
R5996:Cd244a UTSW 1 171,409,208 (GRCm39) splice site probably null
R6346:Cd244a UTSW 1 171,404,889 (GRCm39) missense probably damaging 1.00
R6502:Cd244a UTSW 1 171,405,447 (GRCm39) missense probably benign 0.05
R6612:Cd244a UTSW 1 171,401,672 (GRCm39) missense probably benign 0.05
R6701:Cd244a UTSW 1 171,401,723 (GRCm39) missense possibly damaging 0.67
R6973:Cd244a UTSW 1 171,401,775 (GRCm39) missense probably damaging 1.00
R7655:Cd244a UTSW 1 171,404,823 (GRCm39) missense probably damaging 1.00
R7656:Cd244a UTSW 1 171,404,823 (GRCm39) missense probably damaging 1.00
R7672:Cd244a UTSW 1 171,404,853 (GRCm39) missense probably benign 0.28
R7769:Cd244a UTSW 1 171,404,873 (GRCm39) missense probably benign 0.24
R8910:Cd244a UTSW 1 171,386,941 (GRCm39) missense probably damaging 0.96
R8913:Cd244a UTSW 1 171,401,775 (GRCm39) missense probably damaging 1.00
R8913:Cd244a UTSW 1 171,401,774 (GRCm39) missense probably damaging 1.00
R9274:Cd244a UTSW 1 171,401,928 (GRCm39) missense probably benign 0.03
RF004:Cd244a UTSW 1 171,405,490 (GRCm39) missense probably benign 0.15
Z1177:Cd244a UTSW 1 171,401,918 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-10-05