Incidental Mutation 'IGL02352:Igkv3-2'
ID 289510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv3-2
Ensembl Gene ENSMUSG00000095351
Gene Name immunoglobulin kappa variable 3-2
Synonyms V(kappa)21A
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # IGL02352
Quality Score
Status
Chromosome 6
Chromosomal Location 70675452-70676051 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70675474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 8 (L8P)
Ref Sequence ENSEMBL: ENSMUSP00000100204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103403]
AlphaFold A0A075B5P0
Predicted Effect probably damaging
Transcript: ENSMUST00000103403
AA Change: L8P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000100204
Gene: ENSMUSG00000095351
AA Change: L8P

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 114 5.39e-18 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A C 12: 72,941,829 (GRCm39) probably null Het
Abca5 T A 11: 110,166,156 (GRCm39) N1540I probably benign Het
Adamtsl5 T A 10: 80,179,562 (GRCm39) probably null Het
Aldh2 T C 5: 121,713,960 (GRCm39) E128G probably null Het
Anln A G 9: 22,279,708 (GRCm39) V494A probably benign Het
Ano3 A T 2: 110,715,288 (GRCm39) L50* probably null Het
Atp13a3 A G 16: 30,169,902 (GRCm39) I392T probably damaging Het
C1qtnf5 A G 9: 44,019,631 (GRCm39) E85G possibly damaging Het
Cacna1s A T 1: 136,020,990 (GRCm39) probably benign Het
Ccdc150 G A 1: 54,311,680 (GRCm39) R222H probably benign Het
Cdk5rap3 A T 11: 96,807,003 (GRCm39) I9N probably damaging Het
Cmip A T 8: 118,137,994 (GRCm39) probably benign Het
Cyp21a1 A G 17: 35,023,196 (GRCm39) Y60H probably damaging Het
Cyp2d11 A G 15: 82,278,121 (GRCm39) W10R possibly damaging Het
Dock10 A G 1: 80,483,378 (GRCm39) Y2076H probably damaging Het
Dpcd G T 19: 45,565,493 (GRCm39) A156S probably benign Het
Egflam T C 15: 7,263,706 (GRCm39) N748S probably benign Het
Fam227b A G 2: 125,988,174 (GRCm39) probably benign Het
Fancd2 T A 6: 113,540,073 (GRCm39) I654N probably damaging Het
Hpf1 A G 8: 61,349,836 (GRCm39) I155V probably benign Het
Hrh1 C A 6: 114,457,404 (GRCm39) N228K probably benign Het
Iqgap3 T C 3: 88,009,267 (GRCm39) F734L probably benign Het
Kif5a T C 10: 127,079,370 (GRCm39) Y276C probably damaging Het
Lax1 A T 1: 133,608,208 (GRCm39) S178T possibly damaging Het
Marchf6 C T 15: 31,509,905 (GRCm39) C28Y probably damaging Het
Mylk3 T C 8: 86,081,931 (GRCm39) T356A probably benign Het
Obscn T C 11: 58,891,853 (GRCm39) E6893G probably benign Het
Or2l13 T C 16: 19,305,927 (GRCm39) L113P probably damaging Het
Pate7 A T 9: 35,689,180 (GRCm39) M1K probably null Het
Pgap2 G T 7: 101,885,346 (GRCm39) V71F probably damaging Het
Prob1 T G 18: 35,785,893 (GRCm39) E787A possibly damaging Het
Psmd2 C A 16: 20,475,691 (GRCm39) D430E probably benign Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Serpinb9e A T 13: 33,441,803 (GRCm39) probably benign Het
Sgsm2 G T 11: 74,782,900 (GRCm39) probably benign Het
Slc38a9 A G 13: 112,826,720 (GRCm39) I153V probably benign Het
Slco1b2 T A 6: 141,631,251 (GRCm39) D628E probably damaging Het
Sult2a5 T C 7: 13,362,727 (GRCm39) S145P probably benign Het
Sv2b T C 7: 74,786,197 (GRCm39) T408A probably benign Het
Usp24 T C 4: 106,261,122 (GRCm39) C1626R probably damaging Het
Wdr43 C T 17: 71,939,043 (GRCm39) T217M possibly damaging Het
Wdr95 G A 5: 149,504,084 (GRCm39) V155M probably damaging Het
Wsb1 G A 11: 79,141,838 (GRCm39) L60F probably damaging Het
Wwp2 C T 8: 108,267,278 (GRCm39) R297* probably null Het
Xkr6 T C 14: 64,057,156 (GRCm39) Y356H unknown Het
Other mutations in Igkv3-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01118:Igkv3-2 APN 6 70,675,978 (GRCm39) missense probably damaging 0.98
IGL02359:Igkv3-2 APN 6 70,675,474 (GRCm39) missense probably damaging 0.96
IGL02627:Igkv3-2 APN 6 70,675,810 (GRCm39) missense probably damaging 1.00
R3714:Igkv3-2 UTSW 6 70,675,480 (GRCm39) missense possibly damaging 0.66
R4255:Igkv3-2 UTSW 6 70,676,045 (GRCm39) missense probably benign 0.00
R4449:Igkv3-2 UTSW 6 70,675,825 (GRCm39) missense probably benign 0.11
R4663:Igkv3-2 UTSW 6 70,675,863 (GRCm39) missense probably benign 0.02
R5361:Igkv3-2 UTSW 6 70,676,011 (GRCm39) missense probably benign 0.01
R6347:Igkv3-2 UTSW 6 70,676,017 (GRCm39) missense probably benign 0.01
R6466:Igkv3-2 UTSW 6 70,676,023 (GRCm39) missense probably benign 0.15
R6761:Igkv3-2 UTSW 6 70,675,501 (GRCm39) critical splice donor site probably benign
R6874:Igkv3-2 UTSW 6 70,675,822 (GRCm39) nonsense probably null
R8050:Igkv3-2 UTSW 6 70,675,988 (GRCm39) missense probably damaging 1.00
Z1177:Igkv3-2 UTSW 6 70,676,030 (GRCm39) missense probably benign 0.05
Z1177:Igkv3-2 UTSW 6 70,675,999 (GRCm39) nonsense probably null
Posted On 2015-04-16