Incidental Mutation 'R2210:Cd1d2'
ID 239300
Institutional Source Beutler Lab
Gene Symbol Cd1d2
Ensembl Gene ENSMUSG00000041750
Gene Name CD1d2 antigen
Synonyms CD1.2, Cd1b
MMRRC Submission 040212-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R2210 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 86893875-86896843 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 86895041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 138 (A138S)
Ref Sequence ENSEMBL: ENSMUSP00000148559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041920] [ENSMUST00000192481] [ENSMUST00000194208]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000041920
AA Change: A176S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000039583
Gene: ENSMUSG00000041750
AA Change: A176S

DomainStartEndE-ValueType
Pfam:MHC_I_3 1 200 7.1e-87 PFAM
IGc1 221 290 1.14e-16 SMART
transmembrane domain 303 325 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000192481
AA Change: A138S

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000194208
AA Change: A176S

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016L21Rik C G 5: 115,080,348 (GRCm39) R28G probably damaging Het
Adgrb1 C T 15: 74,419,553 (GRCm39) A798V probably damaging Het
Ash1l G T 3: 88,973,605 (GRCm39) D2555Y probably damaging Het
Atr G A 9: 95,789,353 (GRCm39) R1503Q probably damaging Het
Cbln3 T A 14: 56,121,383 (GRCm39) I88F possibly damaging Het
Cct7 G A 6: 85,436,212 (GRCm39) G41D probably damaging Het
Dct T C 14: 118,280,561 (GRCm39) I152V probably benign Het
Dgkq C A 5: 108,808,389 (GRCm39) R58L probably damaging Het
Emc10 G A 7: 44,142,616 (GRCm39) R109W probably damaging Het
Gm4884 A T 7: 40,692,970 (GRCm39) E313V possibly damaging Het
Hectd1 A T 12: 51,853,245 (GRCm39) I92K probably damaging Het
Icam1 A G 9: 20,930,329 (GRCm39) E61G probably damaging Het
Itgb2l C T 16: 96,227,421 (GRCm39) V541M possibly damaging Het
Lmtk2 A G 5: 144,084,427 (GRCm39) E154G probably damaging Het
Majin C A 19: 6,272,728 (GRCm39) H223N possibly damaging Het
Mc4r A T 18: 66,992,466 (GRCm39) F216I probably damaging Het
Muc4 AG AGG 16: 32,755,176 (GRCm38) probably null Het
Obscn A T 11: 58,958,913 (GRCm39) V3379D probably damaging Het
Or8g30 A T 9: 39,230,089 (GRCm39) S274T probably damaging Het
Pde4b A T 4: 102,454,672 (GRCm39) N346I probably damaging Het
Pitpnm1 T C 19: 4,155,253 (GRCm39) S331P probably damaging Het
Plcb2 T A 2: 118,547,984 (GRCm39) I437F probably damaging Het
Pramel14 T A 4: 143,720,789 (GRCm39) M51L probably benign Het
Prr12 A G 7: 44,698,775 (GRCm39) probably benign Het
Pus7l T G 15: 94,438,173 (GRCm39) D224A possibly damaging Het
Sh3pxd2a A G 19: 47,255,782 (GRCm39) S1007P possibly damaging Het
Stac G A 9: 111,431,638 (GRCm39) P238S probably damaging Het
Tmem107 A G 11: 68,962,096 (GRCm39) E45G possibly damaging Het
Tmt1b T A 10: 128,794,591 (GRCm39) K244N probably damaging Het
Triml2 T C 8: 43,636,397 (GRCm39) Y61H probably damaging Het
Uba2 T C 7: 33,862,587 (GRCm39) D95G probably damaging Het
Ube2d3 T A 3: 135,168,802 (GRCm39) D132E probably benign Het
Unc5d A G 8: 29,251,825 (GRCm39) I216T probably damaging Het
Other mutations in Cd1d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0602:Cd1d2 UTSW 3 86,895,110 (GRCm39) missense probably benign 0.13
R2221:Cd1d2 UTSW 3 86,895,847 (GRCm39) missense probably damaging 1.00
R2282:Cd1d2 UTSW 3 86,894,558 (GRCm39) missense probably benign 0.20
R2919:Cd1d2 UTSW 3 86,894,987 (GRCm39) missense probably damaging 1.00
R4573:Cd1d2 UTSW 3 86,894,861 (GRCm39) missense probably benign 0.20
R4854:Cd1d2 UTSW 3 86,896,556 (GRCm39) critical splice donor site probably null
R5258:Cd1d2 UTSW 3 86,894,954 (GRCm39) missense possibly damaging 0.80
R5765:Cd1d2 UTSW 3 86,894,549 (GRCm39) missense probably benign 0.01
R7000:Cd1d2 UTSW 3 86,895,080 (GRCm39) missense probably benign 0.30
R7468:Cd1d2 UTSW 3 86,895,583 (GRCm39) critical splice acceptor site probably null
R7555:Cd1d2 UTSW 3 86,894,408 (GRCm39) missense probably benign 0.04
R8090:Cd1d2 UTSW 3 86,893,964 (GRCm39) missense possibly damaging 0.75
R8156:Cd1d2 UTSW 3 86,894,569 (GRCm39) critical splice donor site probably null
R8252:Cd1d2 UTSW 3 86,894,375 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TACCGGCTGTGAAATGTACCC -3'
(R):5'- GAACCCAAGAGTGGCTGTCAAC -3'

Sequencing Primer
(F):5'- GAAATGTACCCTGGGAATGCTTC -3'
(R):5'- ACAGGCCTTAATCATCTCTTCCTAGG -3'
Posted On 2014-10-15