Incidental Mutation 'IGL03354:Cd200r3'
ID419860
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd200r3
Ensembl Gene ENSMUSG00000036172
Gene NameCD200 receptor 3
Synonyms4833409J19Rik, mCD200RLb, 4733401I18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL03354
Quality Score
Status
Chromosome16
Chromosomal Location44943678-44981380 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 44953597 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 124 (A124V)
Ref Sequence ENSEMBL: ENSMUSP00000128974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048479] [ENSMUST00000077178] [ENSMUST00000114611] [ENSMUST00000114612] [ENSMUST00000114613] [ENSMUST00000114622] [ENSMUST00000164007] [ENSMUST00000166731] [ENSMUST00000171779]
Predicted Effect probably benign
Transcript: ENSMUST00000048479
AA Change: A124V

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000036624
Gene: ENSMUSG00000036172
AA Change: A124V

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
AA Change: A124V

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000076421
Gene: ENSMUSG00000036172
AA Change: A124V

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: A124V

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000110258
Gene: ENSMUSG00000036172
AA Change: A124V

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
AA Change: A124V

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000110259
Gene: ENSMUSG00000036172
AA Change: A124V

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: A124V

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000110260
Gene: ENSMUSG00000036172
AA Change: A124V

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
AA Change: A124V

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000110269
Gene: ENSMUSG00000036172
AA Change: A124V

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: A124V

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000130480
Gene: ENSMUSG00000036172
AA Change: A124V

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 possibly damaging
Transcript: ENSMUST00000166731
AA Change: A124V

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128974
Gene: ENSMUSG00000036172
AA Change: A124V

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
AA Change: A124V

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000132938
Gene: ENSMUSG00000036172
AA Change: A124V

DomainStartEndE-ValueType
Pfam:V-set 22 164 6.7e-6 PFAM
transmembrane domain 171 193 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G A 5: 138,646,779 A309T possibly damaging Het
Abca15 C A 7: 120,394,488 Y1310* probably null Het
Adad1 G T 3: 37,106,173 C552F probably damaging Het
Adam22 A G 5: 8,158,890 S180P possibly damaging Het
Anxa10 A T 8: 62,096,744 D22E probably damaging Het
Astn1 T C 1: 158,688,604 S1255P probably damaging Het
Bhlhe41 T C 6: 145,864,203 T92A probably damaging Het
Bicc1 G A 10: 70,946,602 P603S probably benign Het
Camk2d T C 3: 126,796,966 probably null Het
Ccdc136 T A 6: 29,419,103 I808N probably damaging Het
Cfap70 T C 14: 20,431,982 E310G probably damaging Het
Cyp2d12 A T 15: 82,558,961 D357V probably damaging Het
Dnah7b G A 1: 46,085,689 V173I probably damaging Het
Dnajb4 T A 3: 152,186,478 E239D probably benign Het
Dzip1 G A 14: 118,912,569 probably benign Het
Emp2 A G 16: 10,285,565 I74T probably damaging Het
Ermn T G 2: 58,052,622 E32A probably benign Het
F10 C A 8: 13,045,089 T82N probably benign Het
Fam227a T C 15: 79,636,750 D295G possibly damaging Het
Gm527 T A 12: 64,922,380 F194I probably damaging Het
Gmcl1 G A 6: 86,726,158 T98M probably damaging Het
Gucy2g T C 19: 55,233,080 R330G possibly damaging Het
Hist1h1e C T 13: 23,622,077 probably benign Het
Kif1a T C 1: 93,060,235 H549R probably damaging Het
Klhl14 T A 18: 21,651,728 D214V probably damaging Het
Lipo2 A G 19: 33,730,870 F248S probably benign Het
Mctp2 C T 7: 72,161,244 V661I probably benign Het
Myh15 A T 16: 49,172,010 M1616L probably benign Het
Nlrp4b A T 7: 10,714,538 I223F probably damaging Het
Olfr1133 T C 2: 87,645,595 N176S probably damaging Het
Olfr1367 T C 13: 21,347,516 V196A possibly damaging Het
Olfr1368 T C 13: 21,142,484 Y191C probably damaging Het
Olfr140 A C 2: 90,051,567 C252W probably damaging Het
Olfr347 A T 2: 36,734,512 S64C possibly damaging Het
Olfr347 G T 2: 36,734,513 S64I possibly damaging Het
Olfr508 T A 7: 108,630,528 C179S possibly damaging Het
Olfr706 A G 7: 106,886,100 V239A probably benign Het
Pcsk4 T C 10: 80,326,059 D116G probably damaging Het
Pibf1 A G 14: 99,150,738 D440G probably benign Het
Plekho2 T C 9: 65,559,421 E129G probably null Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Rars A G 11: 35,824,475 L248P probably damaging Het
Ruvbl1 C A 6: 88,479,215 Y90* probably null Het
Schip1 A G 3: 68,494,965 D125G possibly damaging Het
Smarca2 T C 19: 26,619,903 S62P probably benign Het
Sort1 T C 3: 108,348,706 V656A probably benign Het
Tlr12 A G 4: 128,615,937 L840P probably damaging Het
Trpm3 T A 19: 22,856,718 I438N probably damaging Het
Ttc37 T C 13: 76,182,822 V1457A possibly damaging Het
Wdr11 C A 7: 129,625,302 F829L probably benign Het
Zdhhc11 A T 13: 73,979,145 I214F possibly damaging Het
Other mutations in Cd200r3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02996:Cd200r3 APN 16 44954317 missense probably damaging 1.00
IGL03003:Cd200r3 APN 16 44943775 start codon destroyed probably null 0.90
IGL03003:Cd200r3 APN 16 44943776 missense probably benign 0.01
IGL03005:Cd200r3 APN 16 44953610 missense probably damaging 1.00
R0620:Cd200r3 UTSW 16 44957717 splice site probably null
R1451:Cd200r3 UTSW 16 44951547 missense possibly damaging 0.76
R1623:Cd200r3 UTSW 16 44951448 missense possibly damaging 0.71
R2980:Cd200r3 UTSW 16 44954189 missense probably benign 0.25
R2982:Cd200r3 UTSW 16 44954189 missense probably benign 0.25
R3758:Cd200r3 UTSW 16 44964628 splice site probably null
R4167:Cd200r3 UTSW 16 44954189 missense probably benign 0.25
R4168:Cd200r3 UTSW 16 44954189 missense probably benign 0.25
R4175:Cd200r3 UTSW 16 44954189 missense probably benign 0.25
R4534:Cd200r3 UTSW 16 44954189 missense probably benign 0.25
R4535:Cd200r3 UTSW 16 44954189 missense probably benign 0.25
R4801:Cd200r3 UTSW 16 44957825 missense possibly damaging 0.82
R4802:Cd200r3 UTSW 16 44957825 missense possibly damaging 0.82
R4937:Cd200r3 UTSW 16 44954259 missense probably benign 0.01
R5460:Cd200r3 UTSW 16 44957730 missense possibly damaging 0.66
R6109:Cd200r3 UTSW 16 44953682 missense probably benign 0.02
R8071:Cd200r3 UTSW 16 44954140 missense probably damaging 1.00
R8110:Cd200r3 UTSW 16 44951472 missense probably benign 0.41
Posted On2016-08-02