Incidental Mutation 'R5361:Igkv3-2'
ID422804
Institutional Source Beutler Lab
Gene Symbol Igkv3-2
Ensembl Gene ENSMUSG00000095351
Gene Nameimmunoglobulin kappa variable 3-2
SynonymsV(kappa)21A
MMRRC Submission 042940-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.175) question?
Stock #R5361 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location70698468-70699067 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 70699027 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 107 (T107S)
Ref Sequence ENSEMBL: ENSMUSP00000100204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103403] [ENSMUST00000103404]
Predicted Effect probably benign
Transcript: ENSMUST00000103403
AA Change: T107S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000100204
Gene: ENSMUSG00000095351
AA Change: T107S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 114 5.39e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103404
SMART Domains Protein: ENSMUSP00000100205
Gene: ENSMUSG00000095682

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 114 3.96e-16 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T A 9: 57,257,185 K635N probably damaging Het
Afg3l2 G T 18: 67,421,259 L458M probably damaging Het
Ahnak T A 19: 9,015,341 M4663K possibly damaging Het
C4b T A 17: 34,741,238 T280S probably benign Het
Ccdc166 A G 15: 75,981,020 V366A probably benign Het
Cdh23 A G 10: 60,657,265 probably null Het
Col7a1 A G 9: 108,963,224 T1281A unknown Het
Cul9 TTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTC 17: 46,500,849 probably benign Het
Dbndd1 T A 8: 123,506,745 D127V probably damaging Het
Ddx20 T A 3: 105,683,509 E197V probably damaging Het
Dnm3 A G 1: 162,010,902 S826P probably damaging Het
Dnmt3a T C 12: 3,895,643 V24A probably benign Het
Dopey2 C A 16: 93,770,504 A1273E probably damaging Het
Dsg1c T C 18: 20,283,646 V868A possibly damaging Het
Dtx4 A G 19: 12,485,262 probably null Het
Elovl4 A G 9: 83,790,101 L55P possibly damaging Het
Fam196b G A 11: 34,402,788 E277K probably damaging Het
Fam45a A G 19: 60,825,886 M96V probably benign Het
Fbxo40 T A 16: 36,969,552 T399S possibly damaging Het
Fkbpl G A 17: 34,645,329 A24T probably benign Het
Gm14399 T C 2: 175,131,578 E96G probably damaging Het
Gm14496 T G 2: 182,000,354 V606G probably benign Het
Gpr156 A G 16: 38,005,725 E768G probably damaging Het
Grm5 A T 7: 88,074,496 T665S probably damaging Het
Hsdl2 A G 4: 59,592,301 probably benign Het
Htt T C 5: 34,907,584 V3047A possibly damaging Het
Itih2 T A 2: 10,096,461 T899S probably benign Het
Lhcgr T A 17: 88,742,853 Y415F probably damaging Het
Ltbr G A 6: 125,312,794 R146W probably damaging Het
Med4 C A 14: 73,510,113 S18* probably null Het
Nefl T C 14: 68,084,639 V226A probably damaging Het
Nploc4 T A 11: 120,384,563 N516Y probably damaging Het
Olfr798 A T 10: 129,625,732 F110I probably damaging Het
Olfr99 A G 17: 37,279,610 V270A probably benign Het
Otx1 C A 11: 21,997,037 A91S probably damaging Het
Pcdha3 T G 18: 36,946,699 L165V possibly damaging Het
Pcdhb12 T A 18: 37,437,046 V415D probably damaging Het
Pcdhga10 T C 18: 37,747,450 I88T probably damaging Het
Pigyl T A 9: 22,157,996 M1K probably null Het
Prr27 T C 5: 87,843,344 S272P probably damaging Het
Prss3 C T 6: 41,373,846 D237N probably benign Het
Pstpip2 A G 18: 77,870,378 D150G probably damaging Het
Robo4 T A 9: 37,413,378 D909E probably benign Het
Serpinb3c A T 1: 107,276,931 Y28* probably null Het
Slc26a3 T C 12: 31,450,981 probably null Het
Slc6a1 A T 6: 114,302,532 I91F probably benign Het
Smcr8 T G 11: 60,778,292 Y89D probably damaging Het
Sspo T A 6: 48,466,313 M1898K probably benign Het
Tbl1xr1 T A 3: 22,192,069 I251K probably damaging Het
Thbs4 C T 13: 92,776,993 D140N probably benign Het
Tmbim6 G A 15: 99,405,752 A108T probably benign Het
Trim10 T G 17: 36,875,436 L301R probably benign Het
Trpm7 A T 2: 126,829,241 I607N possibly damaging Het
Vmn2r9 T A 5: 108,848,063 I240F probably damaging Het
Xpot T A 10: 121,600,860 I873F possibly damaging Het
Zfhx4 G A 3: 5,399,207 S1475N probably damaging Het
Zfp712 A G 13: 67,041,015 S483P possibly damaging Het
Zswim7 A T 11: 62,267,547 H122Q probably benign Het
Other mutations in Igkv3-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01118:Igkv3-2 APN 6 70698994 missense probably damaging 0.98
IGL02352:Igkv3-2 APN 6 70698490 missense probably damaging 0.96
IGL02359:Igkv3-2 APN 6 70698490 missense probably damaging 0.96
IGL02627:Igkv3-2 APN 6 70698826 missense probably damaging 1.00
R3714:Igkv3-2 UTSW 6 70698496 missense possibly damaging 0.66
R4255:Igkv3-2 UTSW 6 70699061 missense probably benign 0.00
R4449:Igkv3-2 UTSW 6 70698841 missense probably benign 0.11
R4663:Igkv3-2 UTSW 6 70698879 missense probably benign 0.02
R6347:Igkv3-2 UTSW 6 70699033 missense probably benign 0.01
R6466:Igkv3-2 UTSW 6 70699039 missense probably benign 0.15
R6761:Igkv3-2 UTSW 6 70698517 critical splice donor site probably benign
R6874:Igkv3-2 UTSW 6 70698838 nonsense probably null
R8050:Igkv3-2 UTSW 6 70699004 missense probably damaging 1.00
Z1177:Igkv3-2 UTSW 6 70699015 nonsense probably null
Z1177:Igkv3-2 UTSW 6 70699046 missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- AGCCAGCGAAAGTGTTGATAA -3'
(R):5'- TTACATGGTATGAAGGATGGGAC -3'

Sequencing Primer
(F):5'- CCAGCGAAAGTGTTGATAATTATGGC -3'
(R):5'- GCTCTGTGTTGAGATGCA -3'
Posted On2016-08-04