Incidental Mutation 'R2210:Cd1d2'
Institutional Source Beutler Lab
Gene Symbol Cd1d2
Ensembl Gene ENSMUSG00000041750
Gene NameCD1d2 antigen
SynonymsCd1b, CD1.2
MMRRC Submission 040212-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #R2210 (G1)
Quality Score225
Status Not validated
Chromosomal Location86986551-86989780 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 86987734 bp
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]
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

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
MGI Phenotype Homozygotes for a targeted null mutation ablating both Cd1d1 and Cd1d2 exhibit very few NK1.1-bearing T cells and an impaired interleukin 4 (IL4) response upon systemic T cell activation. Such mice are phenotypically similar to mutants lacking only Cd1d1.
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016L21Rik C G 5: 114,942,289 R28G probably damaging Het
Adgrb1 C T 15: 74,547,704 A798V probably damaging Het
Ash1l G T 3: 89,066,298 D2555Y probably damaging Het
Atr G A 9: 95,907,300 R1503Q probably damaging Het
Cbln3 T A 14: 55,883,926 I88F possibly damaging Het
Cct7 G A 6: 85,459,230 G41D probably damaging Het
Dct T C 14: 118,043,149 I152V probably benign Het
Dgkq C A 5: 108,660,523 R58L probably damaging Het
Emc10 G A 7: 44,493,192 R109W probably damaging Het
Gm4884 A T 7: 41,043,546 E313V possibly damaging Het
Hectd1 A T 12: 51,806,462 I92K probably damaging Het
Icam1 A G 9: 21,019,033 E61G probably damaging Het
Itgb2l C T 16: 96,426,221 V541M possibly damaging Het
Lmtk2 A G 5: 144,147,609 E154G probably damaging Het
Majin C A 19: 6,222,698 H223N possibly damaging Het
Mc4r A T 18: 66,859,395 F216I probably damaging Het
Mettl7b T A 10: 128,958,722 K244N probably damaging Het
Muc4 AG AGG 16: 32,755,176 probably null Het
Obscn A T 11: 59,068,087 V3379D probably damaging Het
Olfr948 A T 9: 39,318,793 S274T probably damaging Het
Pde4b A T 4: 102,597,475 N346I probably damaging Het
Pitpnm1 T C 19: 4,105,253 S331P probably damaging Het
Plcb2 T A 2: 118,717,503 I437F probably damaging Het
Pramef17 T A 4: 143,994,219 M51L probably benign Het
Prr12 A G 7: 45,049,351 probably benign Het
Pus7l T G 15: 94,540,292 D224A possibly damaging Het
Sh3pxd2a A G 19: 47,267,343 S1007P possibly damaging Het
Stac G A 9: 111,602,570 P238S probably damaging Het
Tmem107 A G 11: 69,071,270 E45G possibly damaging Het
Triml2 T C 8: 43,183,360 Y61H probably damaging Het
Uba2 T C 7: 34,163,162 D95G probably damaging Het
Ube2d3 T A 3: 135,463,041 D132E probably benign Het
Unc5d A G 8: 28,761,797 I216T probably damaging Het
Other mutations in Cd1d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0602:Cd1d2 UTSW 3 86987803 missense probably benign 0.13
R2221:Cd1d2 UTSW 3 86988540 missense probably damaging 1.00
R2282:Cd1d2 UTSW 3 86987251 missense probably benign 0.20
R2919:Cd1d2 UTSW 3 86987680 missense probably damaging 1.00
R4573:Cd1d2 UTSW 3 86987554 missense probably benign 0.20
R4854:Cd1d2 UTSW 3 86989249 critical splice donor site probably null
R5258:Cd1d2 UTSW 3 86987647 missense possibly damaging 0.80
R5765:Cd1d2 UTSW 3 86987242 missense probably benign 0.01
Predicted Primers PCR Primer

Sequencing Primer
Posted On2014-10-15