Incidental Mutation 'R8346:Ighv2-2'
ID645248
Institutional Source Beutler Lab
Gene Symbol Ighv2-2
Ensembl Gene ENSMUSG00000096464
Gene Nameimmunoglobulin heavy variable 2-2
SynonymsGm16970
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.243) question?
Stock #R8346 (G1)
Quality Score225.009
Status Not validated
Chromosome12
Chromosomal Location113588267-113588702 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 113588569 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 16 (C16*)
Ref Sequence ENSEMBL: ENSMUSP00000100224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103443]
Predicted Effect probably null
Transcript: ENSMUST00000103443
AA Change: C16*
SMART Domains Protein: ENSMUSP00000100224
Gene: ENSMUSG00000096464
AA Change: C16*

DomainStartEndE-ValueType
IGv 36 116 3.92e-29 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik A G 14: 59,142,772 S26P probably damaging Het
Aco1 T A 4: 40,177,876 M299K probably damaging Het
Acox1 G T 11: 116,178,273 T382N possibly damaging Het
Angpt2 G A 8: 18,741,119 R54* probably null Het
App G T 16: 85,103,257 R102S unknown Het
Chd1l T C 3: 97,562,643 N856D probably benign Het
Col11a1 A G 3: 114,212,169 D1650G unknown Het
Cx3cl1 T C 8: 94,780,540 V391A probably damaging Het
Cyp11b2 T C 15: 74,851,768 Y378C probably damaging Het
Cyp26b1 T C 6: 84,577,168 S156G probably benign Het
Cyp3a11 C T 5: 145,858,802 M446I probably damaging Het
D7Ertd443e G A 7: 134,348,756 T396I possibly damaging Het
Dusp4 C A 8: 34,807,938 N70K possibly damaging Het
Dync1h1 G A 12: 110,665,792 A4499T probably benign Het
Eno2 T C 6: 124,763,795 D266G possibly damaging Het
Eomes T C 9: 118,484,968 S694P probably benign Het
Fam105a A G 15: 27,664,558 Y76H probably damaging Het
Fam71f1 G A 6: 29,334,031 C296Y probably damaging Het
Fmo4 A G 1: 162,794,223 V473A probably benign Het
Fmo5 T A 3: 97,645,646 N303K probably damaging Het
Gdf10 A G 14: 33,931,845 E103G probably benign Het
Gjb6 T C 14: 57,124,802 M1V probably null Het
Gm17067 A G 7: 42,708,649 L143P probably damaging Het
Helz A G 11: 107,672,573 D1613G unknown Het
Hmgn3 T C 9: 83,111,106 K50E probably damaging Het
Hoxc11 G A 15: 102,954,751 G76S possibly damaging Het
Ighv1-9 A T 12: 114,583,828 M31K probably benign Het
Kidins220 T G 12: 25,036,534 F989C probably damaging Het
Krtap28-13 A G 1: 83,061,365 K124E unknown Het
Mast4 A G 13: 102,751,478 V1141A probably damaging Het
Myb A T 10: 21,126,237 M735K probably benign Het
Myo3a T A 2: 22,558,422 probably null Het
Naa60 G A 16: 3,900,643 G113D probably damaging Het
Nfatc1 T C 18: 80,682,167 I461V probably benign Het
Nphp4 C A 4: 152,561,321 A1262D probably damaging Het
Obscn A T 11: 59,085,181 V2040E possibly damaging Het
Olfr350 A G 2: 36,850,339 I98V probably benign Het
Olfr459 A G 6: 41,772,123 Y59H probably damaging Het
Ormdl1 T A 1: 53,305,467 F63I possibly damaging Het
Phc1 C T 6: 122,325,815 V250M probably damaging Het
Pik3c2b G A 1: 133,090,246 V949M probably damaging Het
Plscr4 C T 9: 92,490,790 R322* probably null Het
Prmt8 T A 6: 127,711,847 M187L probably damaging Het
Ptpn3 T C 4: 57,225,547 I513V probably damaging Het
Rad17 A C 13: 100,645,173 S39A possibly damaging Het
Rbck1 T C 2: 152,318,780 Y412C probably damaging Het
Rfc3 C A 5: 151,645,635 M152I probably damaging Het
Scn11a C A 9: 119,778,981 C1028F probably damaging Het
Sfmbt2 C A 2: 10,461,425 P357Q probably damaging Het
Slc22a6 C G 19: 8,621,805 R267G probably damaging Het
St3gal1 G A 15: 67,113,662 R48C probably damaging Het
Stmnd1 A G 13: 46,299,460 N204S probably benign Het
Tdrd1 T C 19: 56,842,267 V244A probably benign Het
Ttc28 G A 5: 111,233,341 D1240N probably benign Het
Vmn2r25 T C 6: 123,825,391 T518A probably benign Het
Xdh T C 17: 73,913,943 D597G probably damaging Het
Zfp457 G A 13: 67,293,798 Q238* probably null Het
Zfp647 T C 15: 76,911,728 D244G probably damaging Het
Zfp870 T A 17: 32,883,869 E162V possibly damaging Het
Other mutations in Ighv2-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02620:Ighv2-2 APN 12 113588292 missense possibly damaging 0.69
R2871:Ighv2-2 UTSW 12 113588498 missense possibly damaging 0.59
R2871:Ighv2-2 UTSW 12 113588498 missense possibly damaging 0.59
R2874:Ighv2-2 UTSW 12 113588498 missense possibly damaging 0.59
R5036:Ighv2-2 UTSW 12 113588472 missense possibly damaging 0.69
R5677:Ighv2-2 UTSW 12 113588522 missense probably benign 0.00
R7950:Ighv2-2 UTSW 12 113588294 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAATTGTCCTTGCTGATGCTC -3'
(R):5'- GCTGAGAAGCTCCATCCTCTTC -3'

Sequencing Primer
(F):5'- CTCAGTCTGGATATGAAAGCTGC -3'
(R):5'- TTCTCATAGAGCCTCCATCAGAG -3'
Posted On2020-09-02