Incidental Mutation 'R4168:Cd200r3'
ID 320671
Institutional Source Beutler Lab
Gene Symbol Cd200r3
Ensembl Gene ENSMUSG00000036172
Gene Name CD200 receptor 3
Synonyms 4833409J19Rik, mCD200RLb, 4733401I18Rik
MMRRC Submission 041009-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R4168 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 44764041-44801743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44774552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 188 (D188E)
Ref Sequence ENSEMBL: ENSMUSP00000128974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048479] [ENSMUST00000077178] [ENSMUST00000114611] [ENSMUST00000114612] [ENSMUST00000114613] [ENSMUST00000114622] [ENSMUST00000164007] [ENSMUST00000166731] [ENSMUST00000171779]
AlphaFold Q5UKY4
Predicted Effect probably benign
Transcript: ENSMUST00000048479
AA Change: D188E

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036624
Gene: ENSMUSG00000036172
AA Change: D188E

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 33 49 N/A INTRINSIC
PDB:4BFI|A 58 238 1e-42 PDB
Blast:IG 65 163 1e-21 BLAST
Blast:IG_like 165 270 8e-32 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000077178
SMART Domains Protein: ENSMUSP00000076421
Gene: ENSMUSG00000036172

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 33 49 N/A INTRINSIC
PDB:4BFI|A 58 163 1e-12 PDB
Blast:IG 65 163 2e-22 BLAST
transmembrane domain 171 193 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114611
AA Change: D188E

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110258
Gene: ENSMUSG00000036172
AA Change: D188E

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 33 49 N/A INTRINSIC
PDB:4BFI|A 58 238 9e-43 PDB
Blast:IG 65 163 1e-21 BLAST
Blast:IG_like 165 273 2e-32 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000114612
SMART Domains Protein: ENSMUSP00000110259
Gene: ENSMUSG00000036172

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 33 49 N/A INTRINSIC
PDB:4BFI|A 58 163 8e-13 PDB
Blast:IG 65 163 2e-22 BLAST
transmembrane domain 171 193 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114613
AA Change: D188E

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110260
Gene: ENSMUSG00000036172
AA Change: D188E

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 33 49 N/A INTRINSIC
PDB:4BFI|A 58 238 9e-43 PDB
Blast:IG 65 163 1e-21 BLAST
Blast:IG_like 165 274 2e-32 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000114622
SMART Domains Protein: ENSMUSP00000110269
Gene: ENSMUSG00000036172

DomainStartEndE-ValueType
Pfam:V-set 22 164 6.9e-6 PFAM
transmembrane domain 171 193 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164007
AA Change: D188E

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000130480
Gene: ENSMUSG00000036172
AA Change: D188E

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 33 49 N/A INTRINSIC
PDB:4BFI|A 58 238 1e-42 PDB
Blast:IG 65 163 1e-21 BLAST
Blast:IG_like 165 273 2e-32 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000166731
AA Change: D188E

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128974
Gene: ENSMUSG00000036172
AA Change: D188E

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 33 49 N/A INTRINSIC
PDB:4BFI|A 58 238 8e-43 PDB
Blast:IG 65 163 9e-22 BLAST
Blast:IG_like 165 273 2e-32 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000171779
SMART Domains Protein: ENSMUSP00000132938
Gene: ENSMUSG00000036172

DomainStartEndE-ValueType
Pfam:V-set 22 164 6.7e-6 PFAM
transmembrane domain 171 193 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 98% (39/40)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C3 A T 17: 57,525,608 (GRCm39) F883I probably benign Het
Cbr4 T A 8: 61,944,555 (GRCm39) probably benign Het
Chpf2 T C 5: 24,796,788 (GRCm39) V578A possibly damaging Het
Clasrp A G 7: 19,315,079 (GRCm39) probably benign Het
Cmip A T 8: 118,183,656 (GRCm39) N743I probably damaging Het
Ctif A C 18: 75,770,286 (GRCm39) L33R probably damaging Het
Dmap1 T A 4: 117,538,507 (GRCm39) H54L possibly damaging Het
Elk3 A G 10: 93,101,197 (GRCm39) probably null Het
Fcgbpl1 T C 7: 27,836,534 (GRCm39) L151P probably benign Het
Flt4 G A 11: 49,521,400 (GRCm39) R440H probably benign Het
Gabrb2 A T 11: 42,312,155 (GRCm39) probably benign Het
Gm12789 A G 4: 101,847,159 (GRCm39) Y148C possibly damaging Het
Haspin A G 11: 73,026,848 (GRCm39) L747P probably damaging Het
Intu C T 3: 40,627,053 (GRCm39) P278L probably benign Het
Kif27 A G 13: 58,493,562 (GRCm39) I127T probably benign Het
Mogat1 T C 1: 78,488,672 (GRCm39) V25A possibly damaging Het
Nop14 A G 5: 34,814,088 (GRCm39) S157P probably damaging Het
Or5al6 A G 2: 85,976,523 (GRCm39) I185T probably benign Het
Or5d39 T C 2: 87,980,189 (GRCm39) H58R probably damaging Het
Or5k3 A T 16: 58,969,363 (GRCm39) Y50F probably benign Het
Oxct2b T C 4: 123,011,478 (GRCm39) L466P probably damaging Het
Padi6 A G 4: 140,469,245 (GRCm39) C32R probably damaging Het
Pla2r1 A T 2: 60,327,958 (GRCm39) Y501* probably null Het
Rb1cc1 G A 1: 6,300,248 (GRCm39) V8I probably damaging Het
Rexo5 A G 7: 119,426,621 (GRCm39) probably benign Het
Slco1a7 T C 6: 141,684,673 (GRCm39) I261V probably benign Het
Tmem119 T C 5: 113,933,048 (GRCm39) E251G probably benign Het
Vmn2r112 T A 17: 22,822,069 (GRCm39) M249K probably benign Het
Zc2hc1a A G 3: 7,583,451 (GRCm39) T41A probably benign Het
Zfp128 A G 7: 12,624,289 (GRCm39) D219G probably benign Het
Znrf2 T C 6: 54,840,945 (GRCm39) V173A possibly damaging Het
Other mutations in Cd200r3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02996:Cd200r3 APN 16 44,774,680 (GRCm39) missense probably damaging 1.00
IGL03003:Cd200r3 APN 16 44,764,139 (GRCm39) missense probably benign 0.01
IGL03003:Cd200r3 APN 16 44,764,138 (GRCm39) start codon destroyed probably null 0.90
IGL03005:Cd200r3 APN 16 44,773,973 (GRCm39) missense probably damaging 1.00
IGL03354:Cd200r3 APN 16 44,773,960 (GRCm39) missense possibly damaging 0.64
R0620:Cd200r3 UTSW 16 44,778,080 (GRCm39) splice site probably null
R1451:Cd200r3 UTSW 16 44,771,910 (GRCm39) missense possibly damaging 0.76
R1623:Cd200r3 UTSW 16 44,771,811 (GRCm39) missense possibly damaging 0.71
R2980:Cd200r3 UTSW 16 44,774,552 (GRCm39) missense probably benign 0.25
R2982:Cd200r3 UTSW 16 44,774,552 (GRCm39) missense probably benign 0.25
R3758:Cd200r3 UTSW 16 44,784,991 (GRCm39) splice site probably null
R4167:Cd200r3 UTSW 16 44,774,552 (GRCm39) missense probably benign 0.25
R4175:Cd200r3 UTSW 16 44,774,552 (GRCm39) missense probably benign 0.25
R4534:Cd200r3 UTSW 16 44,774,552 (GRCm39) missense probably benign 0.25
R4535:Cd200r3 UTSW 16 44,774,552 (GRCm39) missense probably benign 0.25
R4801:Cd200r3 UTSW 16 44,778,188 (GRCm39) missense possibly damaging 0.82
R4802:Cd200r3 UTSW 16 44,778,188 (GRCm39) missense possibly damaging 0.82
R4937:Cd200r3 UTSW 16 44,774,622 (GRCm39) missense probably benign 0.01
R5460:Cd200r3 UTSW 16 44,778,093 (GRCm39) missense possibly damaging 0.66
R6109:Cd200r3 UTSW 16 44,774,045 (GRCm39) missense probably benign 0.02
R8071:Cd200r3 UTSW 16 44,774,503 (GRCm39) missense probably damaging 1.00
R8110:Cd200r3 UTSW 16 44,771,835 (GRCm39) missense probably benign 0.41
R8906:Cd200r3 UTSW 16 44,778,102 (GRCm39) missense possibly damaging 0.84
R9068:Cd200r3 UTSW 16 44,773,750 (GRCm39) splice site probably benign
R9423:Cd200r3 UTSW 16 44,771,895 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGTGCCAGGTAAGCCACATAC -3'
(R):5'- GCCACATTTGTCACAAACAGATAG -3'

Sequencing Primer
(F):5'- GAGGTGCATCATCTCTGACTGAAC -3'
(R):5'- TTCTTCTTTTTAAAAATGGGGCAGG -3'
Posted On 2015-06-12