Incidental Mutation 'R0020:Cd2bp2'
ID 201371
Institutional Source Beutler Lab
Gene Symbol Cd2bp2
Ensembl Gene ENSMUSG00000042502
Gene Name CD2 cytoplasmic tail binding protein 2
Synonyms 1500011B02Rik, 2410024K20Rik
MMRRC Submission 038315-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R0020 (G1)
Quality Score 56
Status Validated
Chromosome 7
Chromosomal Location 126790832-126795222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 126792996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 342 (T342M)
Ref Sequence ENSEMBL: ENSMUSP00000146167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035771] [ENSMUST00000120705] [ENSMUST00000166791] [ENSMUST00000205316] [ENSMUST00000205321] [ENSMUST00000205355] [ENSMUST00000206026] [ENSMUST00000206081] [ENSMUST00000206587]
AlphaFold Q9CWK3
Predicted Effect probably damaging
Transcript: ENSMUST00000035771
AA Change: T342M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044790
Gene: ENSMUSG00000042502
AA Change: T342M

DomainStartEndE-ValueType
low complexity region 46 60 N/A INTRINSIC
low complexity region 156 165 N/A INTRINSIC
low complexity region 172 193 N/A INTRINSIC
GYF 282 339 7.35e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120705
SMART Domains Protein: ENSMUSP00000113307
Gene: ENSMUSG00000042492

DomainStartEndE-ValueType
low complexity region 10 33 N/A INTRINSIC
low complexity region 66 81 N/A INTRINSIC
low complexity region 129 143 N/A INTRINSIC
low complexity region 145 161 N/A INTRINSIC
low complexity region 207 227 N/A INTRINSIC
Blast:TBC 274 305 6e-10 BLAST
TBC 343 557 8.23e-57 SMART
low complexity region 632 678 N/A INTRINSIC
coiled coil region 701 769 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166791
AA Change: T342M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132963
Gene: ENSMUSG00000042502
AA Change: T342M

DomainStartEndE-ValueType
low complexity region 46 60 N/A INTRINSIC
low complexity region 156 165 N/A INTRINSIC
low complexity region 172 193 N/A INTRINSIC
GYF 282 339 7.35e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175164
Predicted Effect probably damaging
Transcript: ENSMUST00000205316
AA Change: T342M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000205321
Predicted Effect probably benign
Transcript: ENSMUST00000205355
Predicted Effect probably damaging
Transcript: ENSMUST00000206026
AA Change: T342M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205525
Predicted Effect probably benign
Transcript: ENSMUST00000206081
Predicted Effect probably benign
Transcript: ENSMUST00000205620
Predicted Effect probably benign
Transcript: ENSMUST00000206587
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.4%
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 bi-functional protein. In the cytoplasm, the encoded protein binds the cytoplasmic tail of human surface antigen CD2 via its C-terminal GYF domain, and regulate CD2-triggered T lymphocyte activation. In the nucleus, this protein is a component of the U5 small nuclear ribonucleoprotein complex and is involved in RNA splicing. A pseudogene has been identified on chromosome 7. Alternative splicing results in multiple transcript variants but their biological validity has not been determined. [provided by RefSeq, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ado T C 10: 67,383,927 (GRCm39) D226G probably benign Het
Agfg2 C T 5: 137,652,064 (GRCm39) V432M probably benign Het
Atf2 T C 2: 73,676,628 (GRCm39) D122G possibly damaging Het
Brd10 A T 19: 29,693,597 (GRCm39) D2032E probably damaging Het
Cip2a A T 16: 48,821,975 (GRCm39) H201L probably damaging Het
Col6a3 T A 1: 90,739,272 (GRCm39) I319F probably damaging Het
Cst11 T A 2: 148,613,253 (GRCm39) Y24F probably damaging Het
Cstb T A 10: 78,263,170 (GRCm39) V65E probably benign Het
Cyp2j11 G A 4: 96,195,641 (GRCm39) H352Y probably benign Het
D130043K22Rik T A 13: 25,038,475 (GRCm39) probably benign Het
Dbh A G 2: 27,060,584 (GRCm39) probably benign Het
Dhdh T C 7: 45,137,528 (GRCm39) K53R probably benign Het
Drc3 A G 11: 60,261,371 (GRCm39) Y174C probably damaging Het
Ezr G T 17: 7,010,126 (GRCm39) Q308K probably damaging Het
F3 A T 3: 121,525,265 (GRCm39) N169Y probably damaging Het
Fbn2 G T 18: 58,238,236 (GRCm39) T587K probably damaging Het
Fhl5 A T 4: 25,200,054 (GRCm39) V260E probably benign Het
Glyr1 A G 16: 4,854,913 (GRCm39) I55T probably damaging Het
Gm12695 G C 4: 96,657,972 (GRCm39) P66A probably damaging Het
Gon4l G T 3: 88,766,244 (GRCm39) V428L probably damaging Het
Ighv6-5 T C 12: 114,380,241 (GRCm39) D92G probably null Het
Inhba A C 13: 16,200,949 (GRCm39) K170N possibly damaging Het
Kng2 A G 16: 22,816,046 (GRCm39) V317A probably benign Het
Larp1 T A 11: 57,940,849 (GRCm39) D658E probably damaging Het
Map3k14 T C 11: 103,118,500 (GRCm39) E562G probably damaging Het
Megf10 G T 18: 57,420,965 (GRCm39) V868F possibly damaging Het
Nap1l1 A C 10: 111,326,884 (GRCm39) E148D probably benign Het
Nlrp4a A T 7: 26,149,797 (GRCm39) H468L probably damaging Het
Nphs1 G T 7: 30,162,633 (GRCm39) V357L probably benign Het
Or10aa3 T A 1: 173,878,413 (GRCm39) V158E probably damaging Het
Pclo A G 5: 14,719,687 (GRCm39) T1275A unknown Het
Pde4d T A 13: 110,091,104 (GRCm39) C35S possibly damaging Het
Pkd1l1 A G 11: 8,825,765 (GRCm39) probably benign Het
Pkd2 A G 5: 104,651,382 (GRCm39) E910G probably damaging Het
Pot1b T A 17: 55,960,429 (GRCm39) M634L probably benign Het
Ppp2r5c C T 12: 110,541,257 (GRCm39) Q469* probably null Het
Ppp6r2 T A 15: 89,143,342 (GRCm39) M163K probably damaging Het
Prss43 C A 9: 110,657,580 (GRCm39) probably benign Het
Rb1cc1 C A 1: 6,334,772 (GRCm39) N1444K possibly damaging Het
Rimoc1 T C 15: 4,021,350 (GRCm39) probably benign Het
Scube2 A G 7: 109,430,095 (GRCm39) probably benign Het
Slamf9 T C 1: 172,303,082 (GRCm39) S7P possibly damaging Het
Slc35b2 T A 17: 45,877,782 (GRCm39) M303K probably damaging Het
Slc4a7 T A 14: 14,796,108 (GRCm38) F1116I probably benign Het
Slco1a8 A T 6: 141,918,076 (GRCm39) V600E possibly damaging Het
Smarcad1 T A 6: 65,060,991 (GRCm39) probably benign Het
Tamalin T C 15: 101,128,433 (GRCm39) V157A probably damaging Het
Tns3 A C 11: 8,495,227 (GRCm39) probably null Het
Zfp282 T G 6: 47,856,943 (GRCm39) W59G probably damaging Het
Zfp746 C A 6: 48,041,641 (GRCm39) A362S probably benign Het
Other mutations in Cd2bp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0201:Cd2bp2 UTSW 7 126,793,000 (GRCm39) missense probably damaging 1.00
R0550:Cd2bp2 UTSW 7 126,792,996 (GRCm39) missense probably damaging 1.00
R0674:Cd2bp2 UTSW 7 126,794,008 (GRCm39) missense probably damaging 1.00
R1929:Cd2bp2 UTSW 7 126,793,050 (GRCm39) missense probably benign 0.22
R2187:Cd2bp2 UTSW 7 126,793,963 (GRCm39) missense probably benign 0.06
R5877:Cd2bp2 UTSW 7 126,793,971 (GRCm39) missense probably damaging 1.00
R6049:Cd2bp2 UTSW 7 126,793,007 (GRCm39) missense probably damaging 1.00
R6109:Cd2bp2 UTSW 7 126,793,987 (GRCm39) missense probably damaging 1.00
R7008:Cd2bp2 UTSW 7 126,794,567 (GRCm39) missense possibly damaging 0.90
R8198:Cd2bp2 UTSW 7 126,793,576 (GRCm39) missense possibly damaging 0.91
R8826:Cd2bp2 UTSW 7 126,793,257 (GRCm39) missense probably damaging 1.00
R8946:Cd2bp2 UTSW 7 126,793,923 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AACTGAGGTGGTCCAAGACACCAG -3'
(R):5'- TGCTTGAGGCCCAAGTATCGTTC -3'

Sequencing Primer
(F):5'- CAAGTGAGGAAGTCTCTCGG -3'
(R):5'- GAGCTGTATGGACCCTTCAC -3'
Posted On 2014-06-02