Incidental Mutation 'R5258:Cd1d2'
ID401223
Institutional Source Beutler Lab
Gene Symbol Cd1d2
Ensembl Gene ENSMUSG00000041750
Gene NameCD1d2 antigen
SynonymsCd1b, CD1.2
MMRRC Submission 042828-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #R5258 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location86986551-86989780 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to G at 86987647 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 147 (R147G)
Ref Sequence ENSEMBL: ENSMUSP00000148369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041920] [ENSMUST00000192481] [ENSMUST00000194208]
Predicted Effect probably benign
Transcript: ENSMUST00000041920
AA Change: R147G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000039583
Gene: ENSMUSG00000041750
AA Change: R147G

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: R109G

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000194208
AA Change: R147G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 98% (55/56)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032A03Rik T C 9: 50,764,333 probably benign Het
3425401B19Rik T A 14: 32,663,309 D233V probably damaging Het
Abca13 A T 11: 9,249,684 T128S possibly damaging Het
Abca16 T G 7: 120,436,769 probably null Het
Abcc8 T C 7: 46,108,387 I1313V probably benign Het
Abcc8 C T 7: 46,157,148 V379I probably benign Het
Acpp T C 9: 104,309,475 I266V probably benign Het
Asf1b C T 8: 83,969,267 T179I probably benign Het
B3gnt7 A G 1: 86,305,565 K61E possibly damaging Het
Card11 G A 5: 140,876,425 P1039L possibly damaging Het
Cfap69 T C 5: 5,604,271 probably null Het
Ddx46 T C 13: 55,653,024 F331L possibly damaging Het
Dkk4 C A 8: 22,627,015 L215I probably damaging Het
Dnhd1 C T 7: 105,674,037 T584I probably benign Het
Dock3 T C 9: 106,996,925 Y449C probably damaging Het
Foxi2 C T 7: 135,410,527 T48M probably benign Het
Gm12887 T C 4: 121,615,700 K82E probably benign Het
Gm4787 G C 12: 81,377,830 T518S probably benign Het
Igkv4-80 T A 6: 69,016,827 T27S probably benign Het
Invs A G 4: 48,396,374 D349G possibly damaging Het
Lbhd1 A G 19: 8,884,089 probably benign Het
Lipo3 T A 19: 33,613,843 probably benign Het
Llgl1 G C 11: 60,711,563 probably null Het
Lyzl6 T A 11: 103,635,073 I74F probably damaging Het
Map3k6 T C 4: 133,247,642 V662A possibly damaging Het
Megf8 T A 7: 25,348,326 F1645I possibly damaging Het
Mfsd4b2 T A 10: 39,922,021 M113L probably benign Het
Mib1 G A 18: 10,795,856 probably null Het
Mrps6 T A 16: 92,099,655 V36E probably damaging Het
Nhsl1 C A 10: 18,524,322 S432* probably null Het
Nle1 T C 11: 82,904,946 D225G probably damaging Het
Nlrp4c T A 7: 6,066,623 S508T probably benign Het
Olfr1 AGCGGTCGTAGGC AGC 11: 73,395,654 probably null Het
Olfr1164 A T 2: 88,093,418 Y173N probably benign Het
P2rx7 A G 5: 122,681,003 E496G probably damaging Het
Prdm16 A T 4: 154,367,214 D179E possibly damaging Het
Psca A T 15: 74,716,391 I56F probably damaging Het
Ptprg A G 14: 12,142,431 T361A probably benign Het
Ptrhd1 A G 12: 4,236,481 Y124C probably damaging Het
Sesn1 C T 10: 41,894,988 P172S probably benign Het
Sspo T C 6: 48,476,494 V2872A probably damaging Het
Stard9 T A 2: 120,699,343 L2027H probably damaging Het
Tas2r114 T A 6: 131,689,541 I175F probably benign Het
Tex2 T A 11: 106,567,759 probably benign Het
Tfdp1 C T 8: 13,369,529 T86M possibly damaging Het
Trav14-1 C T 14: 53,554,273 H27Y probably benign Het
Trim24 A T 6: 37,919,400 Q264L probably damaging Het
Vmn2r90 A G 17: 17,712,852 I225V probably benign Het
Vps13b A G 15: 35,794,421 T2326A possibly damaging Het
Zfp354b A C 11: 50,923,090 I336S probably benign Het
Zfp407 C T 18: 84,315,926 V1761I probably damaging Het
Zfp958 A T 8: 4,628,456 E160D probably benign Het
Other mutations in Cd1d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0602:Cd1d2 UTSW 3 86987803 missense probably benign 0.13
R2210:Cd1d2 UTSW 3 86987734 missense possibly damaging 0.50
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
R5765:Cd1d2 UTSW 3 86987242 missense probably benign 0.01
R7000:Cd1d2 UTSW 3 86987773 missense probably benign 0.30
R7468:Cd1d2 UTSW 3 86988276 critical splice acceptor site probably null
R7555:Cd1d2 UTSW 3 86987101 missense probably benign 0.04
R8090:Cd1d2 UTSW 3 86986657 missense possibly damaging 0.75
R8156:Cd1d2 UTSW 3 86987262 critical splice donor site probably null
R8252:Cd1d2 UTSW 3 86987068 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGACACCATGATCATTTTCCTC -3'
(R):5'- TAGCCAGCTGACCTTGCTTC -3'

Sequencing Primer
(F):5'- GACACCATGATCATTTTCCTCAACTG -3'
(R):5'- AGCTGACCTTGCTTCTCTAGG -3'
Posted On2016-07-06