Incidental Mutation 'R3914:Igkv2-137'
ID474544
Institutional Source Beutler Lab
Gene Symbol Igkv2-137
Ensembl Gene ENSMUSG00000076501
Gene Nameimmunoglobulin kappa chain variable 2-137
SynonymsGm16955
MMRRC Submission 040912-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.164) question?
Stock #R3914 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location67555636-67556216 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 67555984 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 44 (R44W)
Ref Sequence ENSEMBL: ENSMUSP00000100103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103302]
Predicted Effect probably damaging
Transcript: ENSMUST00000103302
AA Change: R44W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100103
Gene: ENSMUSG00000076501
AA Change: R44W

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 115 2.35e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199480
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI481877 T A 4: 59,094,201 R174S possibly damaging Het
Atp8b2 A T 3: 89,954,448 I266N probably damaging Het
AU041133 G A 10: 82,151,815 R434Q probably damaging Het
Ccdc174 G T 6: 91,899,357 A392S possibly damaging Het
Cdh18 T C 15: 23,410,685 Y419H probably damaging Het
Col20a1 A G 2: 180,998,492 K509R probably benign Het
Csmd2 A T 4: 128,321,324 D513V probably benign Het
D230025D16Rik A G 8: 105,239,983 N121D probably benign Het
Disp1 A G 1: 183,089,102 F585L probably benign Het
Entpd7 G A 19: 43,691,158 R50Q probably benign Het
Exoc1 G A 5: 76,543,561 S244N possibly damaging Het
Fam234b A G 6: 135,225,683 D345G probably damaging Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,577,224 probably null Het
Gprc6a T A 10: 51,628,275 M158L probably benign Het
Hdc T C 2: 126,603,006 T255A probably damaging Het
Hps5 T C 7: 46,783,526 T257A probably damaging Het
Ice1 A G 13: 70,606,084 C628R probably benign Het
Islr2 A T 9: 58,198,383 Y531* probably null Het
Mast4 G A 13: 102,739,321 R1112* probably null Het
Mrc2 T C 11: 105,347,232 probably benign Het
Myo19 G A 11: 84,894,603 R224H probably damaging Het
Nupl1 A G 14: 60,232,147 M375T possibly damaging Het
Phldb2 T C 16: 45,757,163 E1133G probably damaging Het
Rabl6 T C 2: 25,588,706 T238A possibly damaging Het
Ranbp17 G A 11: 33,479,189 A352V probably benign Het
Riok3 A G 18: 12,148,822 I283V probably benign Het
Rrm1 A G 7: 102,457,174 Y300C probably damaging Het
Sipa1l3 T C 7: 29,400,085 D253G probably benign Het
Slc22a8 T A 19: 8,608,186 I305N probably damaging Het
Slc26a3 A T 12: 31,453,906 E303D probably benign Het
Slc32a1 C T 2: 158,611,232 probably benign Het
Tarsl2 C A 7: 65,683,808 Q585K probably benign Het
Ttn T A 2: 76,754,824 I22042F probably damaging Het
Ubqlnl A G 7: 104,149,606 V228A probably benign Het
Wnt7b T A 15: 85,537,858 D201V possibly damaging Het
Xpot A T 10: 121,604,538 I596N possibly damaging Het
Other mutations in Igkv2-137
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03268:Igkv2-137 APN 6 67556108 missense probably benign 0.18
R4692:Igkv2-137 UTSW 6 67555987 missense possibly damaging 0.87
R5513:Igkv2-137 UTSW 6 67556014 missense possibly damaging 0.88
R8320:Igkv2-137 UTSW 6 67556170 frame shift probably null
R8321:Igkv2-137 UTSW 6 67556170 frame shift probably null
Predicted Primers
Posted On2017-04-14