Incidental Mutation 'R9595:Ighv2-3'
ID 723237
Institutional Source Beutler Lab
Gene Symbol Ighv2-3
Ensembl Gene ENSMUSG00000094164
Gene Name immunoglobulin heavy variable 2-3
Synonyms Gm16948
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R9595 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 113574804-113575096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113575084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 24 (K24E)
Ref Sequence ENSEMBL: ENSMUSP00000136577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178229]
AlphaFold A0A075B696
Predicted Effect probably benign
Transcript: ENSMUST00000178229
AA Change: K24E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000136577
Gene: ENSMUSG00000094164
AA Change: K24E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 115 6.9e-28 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,464,566 (GRCm39) M921T probably benign Het
Ankrd33 T C 15: 101,013,785 (GRCm39) probably null Het
Azin2 A G 4: 128,853,617 (GRCm39) V80A probably benign Het
Capza3 A T 6: 139,987,712 (GRCm39) I104F probably benign Het
Cd177 A G 7: 24,451,762 (GRCm39) L418P probably damaging Het
Cd86 A T 16: 36,441,275 (GRCm39) V64D probably damaging Het
Cfap65 A G 1: 74,946,537 (GRCm39) S1352P probably damaging Het
Chst10 C A 1: 38,913,029 (GRCm39) probably null Het
Cyp2j13 G T 4: 95,933,797 (GRCm39) C362* probably null Het
Ddn T C 15: 98,705,577 (GRCm39) T40A possibly damaging Het
Dennd2b C T 7: 109,155,973 (GRCm39) R259Q probably damaging Het
Fam47e G C 5: 92,726,395 (GRCm39) R111P probably benign Het
Fermt3 C T 19: 6,979,619 (GRCm39) V505M probably damaging Het
Flnc A G 6: 29,433,720 (GRCm39) H88R probably benign Het
Glyat A G 19: 12,623,728 (GRCm39) D48G probably damaging Het
Hdac5 A G 11: 102,096,129 (GRCm39) V348A probably benign Het
Iglv1 A G 16: 18,903,948 (GRCm39) V57A possibly damaging Het
Il16 G T 7: 83,322,273 (GRCm39) Y347* probably null Het
Il20rb G A 9: 100,368,311 (GRCm39) T24M possibly damaging Het
Itgae A G 11: 73,016,182 (GRCm39) D797G probably damaging Het
Lrrc37a T A 11: 103,392,552 (GRCm39) T958S probably benign Het
Mall G T 2: 127,571,751 (GRCm39) Y12* probably null Het
N4bp3 C T 11: 51,536,932 (GRCm39) R47Q probably damaging Het
Nacad T C 11: 6,551,790 (GRCm39) D467G probably damaging Het
Or12k8 C A 2: 36,975,204 (GRCm39) K185N possibly damaging Het
Or13a18 T C 7: 140,190,939 (GRCm39) S279P probably damaging Het
Or1af1 T A 2: 37,110,281 (GRCm39) I260N probably damaging Het
Or4f61 T C 2: 111,922,375 (GRCm39) T224A probably damaging Het
Or7a40 G A 16: 16,491,470 (GRCm39) A125V probably damaging Het
Or7e177 A G 9: 20,211,661 (GRCm39) N56S probably damaging Het
Osbpl8 A G 10: 111,108,909 (GRCm39) E397G probably damaging Het
Pcmt1 A T 10: 7,524,817 (GRCm39) I111K possibly damaging Het
Pcnx1 T A 12: 81,965,688 (GRCm39) H90Q Het
Pde4dip C T 3: 97,602,207 (GRCm39) probably null Het
Peli2 T A 14: 48,493,846 (GRCm39) V356D probably damaging Het
Phyhipl G T 10: 70,395,512 (GRCm39) C231* probably null Het
Pirb A T 7: 3,722,406 (GRCm39) S146T possibly damaging Het
Rac1 G A 5: 143,513,643 (GRCm39) probably benign Het
Sh3glb2 C T 2: 30,236,672 (GRCm39) R230Q probably damaging Het
Slc38a8 C A 8: 120,209,403 (GRCm39) C390F probably benign Het
Slc39a8 G T 3: 135,592,688 (GRCm39) L454F possibly damaging Het
Slit1 A C 19: 41,637,851 (GRCm39) I314S probably damaging Het
Son T G 16: 91,454,241 (GRCm39) M996R possibly damaging Het
Sp4 A G 12: 118,262,690 (GRCm39) V452A possibly damaging Het
Tmf1 C T 6: 97,135,457 (GRCm39) D940N probably damaging Het
Tns3 G A 11: 8,401,142 (GRCm39) T1052M possibly damaging Het
Trim33 C T 3: 103,259,350 (GRCm39) P1013L probably damaging Het
Vmn1r175 A T 7: 23,508,508 (GRCm39) S40T probably damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Wdr49 C T 3: 75,265,747 (GRCm39) C233Y probably damaging Het
Wrn T C 8: 33,758,961 (GRCm39) E999G probably benign Het
Yju2b C T 8: 84,988,400 (GRCm39) V76I probably damaging Het
Zfp142 A T 1: 74,611,462 (GRCm39) C778S probably damaging Het
Other mutations in Ighv2-3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02516:Ighv2-3 APN 12 113,574,818 (GRCm39) nonsense probably null
R5205:Ighv2-3 UTSW 12 113,574,895 (GRCm39) missense probably benign 0.03
R5542:Ighv2-3 UTSW 12 113,574,833 (GRCm39) missense probably benign 0.00
R9797:Ighv2-3 UTSW 12 113,574,945 (GRCm39) missense possibly damaging 0.94
Z1177:Ighv2-3 UTSW 12 113,575,211 (GRCm39) missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- AGCTGAATGATAATTTGTGCTCCC -3'
(R):5'- AATGCAAAGCAGCCCTCAGG -3'

Sequencing Primer
(F):5'- GAATGATAATTTGTGCTCCCGTCAC -3'
(R):5'- GATGAGAAGCCCCATCCTCTTC -3'
Posted On 2022-08-09