Incidental Mutation 'R6401:Ighv2-4'
ID 516173
Institutional Source Beutler Lab
Gene Symbol Ighv2-4
Ensembl Gene ENSMUSG00000095866
Gene Name immunoglobulin heavy variable V2-4
Synonyms
MMRRC Submission 044548-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R6401 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 113616911-113617203 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 113617082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 60 (P60Q)
Ref Sequence ENSEMBL: ENSMUSP00000100228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103447] [ENSMUST00000166255]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000103447
AA Change: P60Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100228
Gene: ENSMUSG00000095866
AA Change: P60Q

DomainStartEndE-ValueType
IGv 36 116 1.19e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191967
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 93% (41/44)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano3 T A 2: 110,605,459 (GRCm39) N249I probably benign Het
Ap3s1 A C 18: 46,891,074 (GRCm39) I56L probably benign Het
Ccn5 T C 2: 163,670,946 (GRCm39) I151T probably benign Het
Cngb1 A G 8: 96,030,367 (GRCm39) probably benign Het
Col2a1 T C 15: 97,883,773 (GRCm39) T570A unknown Het
Cyp3a16 T C 5: 145,377,174 (GRCm39) E471G probably damaging Het
D930020B18Rik A G 10: 121,477,762 (GRCm39) N14D possibly damaging Het
Ext1 T C 15: 52,969,493 (GRCm39) E365G possibly damaging Het
Fbn1 C A 2: 125,188,370 (GRCm39) V1490F probably damaging Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gm5431 T A 11: 48,779,536 (GRCm39) N740I probably benign Het
Ifi209 T C 1: 173,472,269 (GRCm39) M370T probably damaging Het
Kif19b A T 5: 140,442,698 (GRCm39) T80S possibly damaging Het
Ldb3 A T 14: 34,299,291 (GRCm39) L111Q probably benign Het
Mcmbp G T 7: 128,308,783 (GRCm39) L413I possibly damaging Het
Mib1 T A 18: 10,795,802 (GRCm39) M721K probably benign Het
Nos3 A G 5: 24,584,809 (GRCm39) T738A probably benign Het
Notch3 T A 17: 32,377,597 (GRCm39) I160L probably benign Het
Nrxn3 C A 12: 89,221,770 (GRCm39) N516K possibly damaging Het
Nt5c2 A G 19: 46,878,250 (GRCm39) Y496H probably benign Het
Or13f5 A C 4: 52,826,242 (GRCm39) T282P probably damaging Het
Or1n1 A T 2: 36,750,177 (GRCm39) L61* probably null Het
Or5b111 T C 19: 13,290,878 (GRCm39) Y257C probably damaging Het
Polm A T 11: 5,779,491 (GRCm39) W436R probably damaging Het
Prex2 T A 1: 11,256,951 (GRCm39) I1221N probably benign Het
Rfpl4b T C 10: 38,696,941 (GRCm39) H220R possibly damaging Het
Rgs12 T C 5: 35,177,676 (GRCm39) F79L probably damaging Het
Rxfp2 A G 5: 149,966,595 (GRCm39) D111G probably benign Het
Smg7 A G 1: 152,715,887 (GRCm39) probably null Het
Spata22 T C 11: 73,224,180 (GRCm39) S34P probably damaging Het
St7 T A 6: 17,855,317 (GRCm39) probably null Het
Stk31 A G 6: 49,400,372 (GRCm39) E399G probably damaging Het
Tcp10b C A 17: 13,292,466 (GRCm39) N296K probably damaging Het
Tonsl T C 15: 76,517,866 (GRCm39) Y645C probably damaging Het
Ttn A T 2: 76,800,206 (GRCm39) M334K probably benign Het
Vcpkmt C A 12: 69,629,619 (GRCm39) V48F probably damaging Het
Vmn2r112 T A 17: 22,822,532 (GRCm39) Y403* probably null Het
Vwa7 G A 17: 35,236,286 (GRCm39) probably null Het
Wscd2 A T 5: 113,726,206 (GRCm39) *572C probably null Het
Xpo7 A G 14: 70,919,787 (GRCm39) L676P probably damaging Het
Zbtb32 A C 7: 30,291,244 (GRCm39) L17W probably damaging Het
Other mutations in Ighv2-4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01469:Ighv2-4 APN 12 113,616,966 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TTTGGCACAGTAGTATATGGCAG -3'
(R):5'- GGTGACATTCCCAAGCTGTAAG -3'

Sequencing Primer
(F):5'- AGTGTCATCAGCTTGCAGAC -3'
(R):5'- CCCAAGCTGTAAGTGTTTCAG -3'
Posted On 2018-05-04