Incidental Mutation 'R6109:Cd2bp2'
ID 484718
Institutional Source Beutler Lab
Gene Symbol Cd2bp2
Ensembl Gene ENSMUSG00000042502
Gene Name CD2 cytoplasmic tail binding protein 2
Synonyms 1500011B02Rik, 2410024K20Rik
MMRRC Submission 044259-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.937) question?
Stock # R6109 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 126790832-126795222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 126793987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 101 (D101N)
Ref Sequence ENSEMBL: ENSMUSP00000145779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035771] [ENSMUST00000120705] [ENSMUST00000166791] [ENSMUST00000206587] [ENSMUST00000205316] [ENSMUST00000205321] [ENSMUST00000206026] [ENSMUST00000205355] [ENSMUST00000206081]
AlphaFold Q9CWK3
Predicted Effect probably damaging
Transcript: ENSMUST00000035771
AA Change: D101N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044790
Gene: ENSMUSG00000042502
AA Change: D101N

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 noncoding transcript
Transcript: ENSMUST00000124240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153857
Predicted Effect probably damaging
Transcript: ENSMUST00000166791
AA Change: D101N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132963
Gene: ENSMUSG00000042502
AA Change: D101N

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: ENSMUST00000206587
AA Change: D101N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000205316
AA Change: D101N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000205321
AA Change: D101N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000206026
AA Change: D101N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect silent
Transcript: ENSMUST00000205355
Predicted Effect probably benign
Transcript: ENSMUST00000205620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205525
Predicted Effect probably benign
Transcript: ENSMUST00000206081
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 100% (64/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,621,303 (GRCm39) Y950C probably benign Het
Acadm A G 3: 153,647,580 (GRCm39) C20R probably damaging Het
Agtpbp1 G T 13: 59,621,560 (GRCm39) T984K probably damaging Het
Agxt2 C T 15: 10,377,508 (GRCm39) T136I probably damaging Het
Ankrd36 C A 11: 5,578,941 (GRCm39) N68K probably damaging Het
Ap3b2 T A 7: 81,143,340 (GRCm39) D10V possibly damaging Het
Apcdd1 A T 18: 63,070,437 (GRCm39) I235F probably damaging Het
Arhgap32 T A 9: 32,171,407 (GRCm39) W1396R probably damaging Het
Ascc3 A G 10: 50,525,343 (GRCm39) T513A probably benign Het
Aym1 C T 5: 113,505,407 (GRCm39) L9F unknown Het
Btnl10 C A 11: 58,811,130 (GRCm39) S151Y probably damaging Het
Camk2a A T 18: 61,076,306 (GRCm39) K95* probably null Het
Ccdc40 T C 11: 119,122,804 (GRCm39) V202A probably benign Het
Cd200r3 T A 16: 44,774,045 (GRCm39) D152E probably benign Het
Cdh20 G A 1: 104,921,739 (GRCm39) D679N probably damaging Het
Clpx C T 9: 65,207,234 (GRCm39) T44I probably benign Het
Cnnm4 T G 1: 36,537,560 (GRCm39) V541G probably damaging Het
Csmd1 T C 8: 16,249,874 (GRCm39) I1035V possibly damaging Het
Ctsw T C 19: 5,517,147 (GRCm39) S62G probably benign Het
Dlk2 T A 17: 46,612,623 (GRCm39) Y109N probably damaging Het
Ebf3 C T 7: 136,807,955 (GRCm39) V363M probably damaging Het
Farsb A G 1: 78,439,907 (GRCm39) probably null Het
Fastkd3 C T 13: 68,738,337 (GRCm39) Q32* probably null Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Foxl3 C A 5: 138,805,850 (GRCm39) Q6K probably damaging Het
Gk5 C A 9: 96,022,663 (GRCm39) F166L probably benign Het
Gm11271 G T 13: 21,565,309 (GRCm39) noncoding transcript Het
Gnat2 T A 3: 108,007,451 (GRCm39) Y290N probably damaging Het
H2-D1 A T 17: 35,482,913 (GRCm39) I148F probably damaging Het
Hdac2 A G 10: 36,862,385 (GRCm39) D83G probably null Het
Kdm5d T C Y: 921,501 (GRCm39) W500R probably damaging Het
Kel A T 6: 41,665,796 (GRCm39) F489I probably benign Het
Kmo C A 1: 175,465,474 (GRCm39) A76E possibly damaging Het
Krt32 T C 11: 99,978,791 (GRCm39) T88A probably benign Het
Lce3b A G 3: 92,840,994 (GRCm39) T30A unknown Het
Lcn11 A G 2: 25,669,308 (GRCm39) H155R possibly damaging Het
Lmln T A 16: 32,889,481 (GRCm39) I129N possibly damaging Het
Meiob A G 17: 25,031,993 (GRCm39) K3E probably benign Het
Mitf C T 6: 97,973,429 (GRCm39) T229M probably damaging Het
Ms4a20 T C 19: 11,079,276 (GRCm39) M131V possibly damaging Het
Muc16 T C 9: 18,566,655 (GRCm39) I1955V unknown Het
Naip1 A G 13: 100,563,690 (GRCm39) C492R probably damaging Het
Ncor2 C T 5: 125,132,910 (GRCm39) A26T probably damaging Het
Ngfr T G 11: 95,468,883 (GRCm39) D165A probably damaging Het
Nobox A T 6: 43,282,103 (GRCm39) S323R probably damaging Het
Or51ac3 T C 7: 103,214,346 (GRCm39) I47V probably benign Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Or8g23 A G 9: 38,971,492 (GRCm39) S157P probably benign Het
Pcdhb1 G T 18: 37,398,306 (GRCm39) V86F possibly damaging Het
Pdk1 A G 2: 71,713,850 (GRCm39) E165G probably benign Het
Peak1 C T 9: 56,166,567 (GRCm39) V454I probably benign Het
Rad9b C T 5: 122,482,360 (GRCm39) G125D probably damaging Het
S100a16 T C 3: 90,449,381 (GRCm39) F19L probably damaging Het
Serpine2 T C 1: 79,788,388 (GRCm39) K190E probably damaging Het
Slf1 A T 13: 77,274,799 (GRCm39) M12K probably damaging Het
Tex101 T C 7: 24,367,738 (GRCm39) T205A possibly damaging Het
Tssk5 T C 15: 76,257,916 (GRCm39) E147G probably damaging Het
Ubr4 A G 4: 139,144,675 (GRCm39) T1495A probably damaging Het
Vav3 C T 3: 109,571,681 (GRCm39) T201M probably damaging Het
Wdr70 A T 15: 8,108,638 (GRCm39) probably null Het
Zfp811 T A 17: 33,016,348 (GRCm39) probably null Het
Zscan10 T A 17: 23,826,103 (GRCm39) F88L probably damaging Het
Other mutations in Cd2bp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0020:Cd2bp2 UTSW 7 126,792,996 (GRCm39) missense probably damaging 1.00
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
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'- GTCTGAAACCTGGTGCTTATCAG -3'
(R):5'- CCGAAGCGTTAACTGAGTTG -3'

Sequencing Primer
(F):5'- TTATCAGGGGGCCGTTCC -3'
(R):5'- CTTTTGCGTGTCTAGCATG -3'
Posted On 2017-08-16