Incidental Mutation 'R5393:Ighv2-5'
ID 425975
Institutional Source Beutler Lab
Gene Symbol Ighv2-5
Ensembl Gene ENSMUSG00000096498
Gene Name immunoglobulin heavy variable 2-5
Synonyms Gm16593
MMRRC Submission 042965-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.515) question?
Stock # R5393 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 113649102-113649394 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113649502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 12 (T12A)
Ref Sequence ENSEMBL: ENSMUSP00000142302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103449] [ENSMUST00000195707]
AlphaFold A0A075B5Q3
Predicted Effect possibly damaging
Transcript: ENSMUST00000103449
AA Change: T12A

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100230
Gene: ENSMUSG00000096498
AA Change: T12A

DomainStartEndE-ValueType
IGv 35 115 4.51e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193425
Predicted Effect possibly damaging
Transcript: ENSMUST00000195707
AA Change: T12A

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142302
Gene: ENSMUSG00000096498
AA Change: T12A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 116 1.8e-31 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 99% (72/73)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110025L11Rik A T 16: 88,860,653 (GRCm39) Y60* probably null Het
Abca6 T A 11: 110,135,121 (GRCm39) E221D probably benign Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adi1 A G 12: 28,725,274 (GRCm39) D8G probably benign Het
Adnp T C 2: 168,024,869 (GRCm39) K809E possibly damaging Het
Aldh18a1 T C 19: 40,574,011 (GRCm39) H4R probably benign Het
Atp6v0a1 T C 11: 100,929,633 (GRCm39) S485P possibly damaging Het
C1galt1 T C 6: 7,864,143 (GRCm39) probably null Het
Cacna2d4 A T 6: 119,216,015 (GRCm39) N94I probably benign Het
Catsperg1 T C 7: 28,884,924 (GRCm39) N899S probably damaging Het
Cilk1 A G 9: 78,067,997 (GRCm39) T463A probably benign Het
Coro2a A G 4: 46,542,255 (GRCm39) S373P probably damaging Het
Cpsf6 G C 10: 117,197,921 (GRCm39) probably benign Het
Csmd3 A T 15: 47,497,099 (GRCm39) N3099K probably damaging Het
Ctla2b T A 13: 61,043,946 (GRCm39) E74D probably damaging Het
Dnah2 T A 11: 69,391,683 (GRCm39) T671S probably benign Het
Drd5 T A 5: 38,478,248 (GRCm39) S414T probably benign Het
Dyrk2 C T 10: 118,695,753 (GRCm39) D502N probably damaging Het
Ecel1 A T 1: 87,080,598 (GRCm39) L376Q possibly damaging Het
Efcab8 G A 2: 153,622,903 (GRCm39) R24Q unknown Het
Eloc A C 1: 16,718,192 (GRCm39) probably benign Het
Ep300 A G 15: 81,515,819 (GRCm39) probably benign Het
Fam89b T C 19: 5,778,733 (GRCm39) D152G probably damaging Het
Gm15455 G A 1: 33,875,927 (GRCm39) noncoding transcript Het
Greb1l A G 18: 10,458,312 (GRCm39) T30A probably benign Het
Hdac10 T C 15: 89,010,887 (GRCm39) Y238C probably damaging Het
Insrr T C 3: 87,718,007 (GRCm39) probably null Het
Irf9 T C 14: 55,843,914 (GRCm39) probably benign Het
Itpr2 A T 6: 146,277,653 (GRCm39) C280* probably null Het
Kcnk18 T C 19: 59,208,271 (GRCm39) C36R probably damaging Het
Khdc4 T A 3: 88,603,913 (GRCm39) H243Q probably benign Het
Klhl14 G T 18: 21,785,051 (GRCm39) N125K probably benign Het
Lce1i T C 3: 92,685,042 (GRCm39) S45G unknown Het
Lrmda A C 14: 22,077,374 (GRCm39) D37A probably damaging Het
Marco A C 1: 120,413,583 (GRCm39) D280E probably damaging Het
Meak7 T C 8: 120,499,157 (GRCm39) I112V probably benign Het
Miox C T 15: 89,220,450 (GRCm39) Q180* probably null Het
Npdc1 A T 2: 25,298,682 (GRCm39) M265L probably damaging Het
Nudcd3 T C 11: 6,063,274 (GRCm39) K205R probably damaging Het
Or2ak6 T A 11: 58,593,326 (GRCm39) H266Q probably damaging Het
Or2t46 C G 11: 58,471,825 (GRCm39) L52V possibly damaging Het
Pcdhga5 C T 18: 37,829,720 (GRCm39) R723C probably benign Het
Pdlim5 T A 3: 141,964,947 (GRCm39) E295D probably damaging Het
Poli C A 18: 70,650,499 (GRCm39) E314* probably null Het
Ptpro A G 6: 137,357,222 (GRCm39) N238D probably benign Het
R3hdm1 A G 1: 128,159,084 (GRCm39) I920V probably benign Het
Ralgapa2 C T 2: 146,187,375 (GRCm39) V1338M probably damaging Het
Saa3 T C 7: 46,362,085 (GRCm39) Y53C probably damaging Het
Septin14 T A 5: 129,760,650 (GRCm39) E398D probably benign Het
Six3 T C 17: 85,931,270 (GRCm39) S309P possibly damaging Het
Slc7a14 A G 3: 31,311,919 (GRCm39) S34P probably damaging Het
Smarca2 C A 19: 26,617,829 (GRCm39) Q287K probably benign Het
Stard9 C T 2: 120,533,387 (GRCm39) L522F possibly damaging Het
Sycp1 T C 3: 102,748,363 (GRCm39) probably null Het
Tbc1d8 A T 1: 39,465,169 (GRCm39) V73E probably damaging Het
Tmem120a T C 5: 135,765,104 (GRCm39) probably null Het
Tsc2 T C 17: 24,819,370 (GRCm39) E1251G possibly damaging Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Wnt5b A C 6: 119,417,394 (GRCm39) L157R probably damaging Het
Zbtb24 T A 10: 41,340,578 (GRCm39) V536E probably damaging Het
Zfp593 G A 4: 133,972,615 (GRCm39) A67V probably benign Het
Zfp995 A T 17: 22,099,473 (GRCm39) F254I probably benign Het
Other mutations in Ighv2-5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02277:Ighv2-5 APN 12 113,649,127 (GRCm39) missense possibly damaging 0.94
R4514:Ighv2-5 UTSW 12 113,649,216 (GRCm39) missense possibly damaging 0.94
R6056:Ighv2-5 UTSW 12 113,649,120 (GRCm39) missense probably benign 0.00
R7139:Ighv2-5 UTSW 12 113,649,219 (GRCm39) missense probably benign 0.19
R7622:Ighv2-5 UTSW 12 113,649,358 (GRCm39) nonsense probably null
R9613:Ighv2-5 UTSW 12 113,649,189 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- ACCCAGTGTACACCATAGCTAG -3'
(R):5'- CTGTCACCCTGAGAGAAAACTG -3'

Sequencing Primer
(F):5'- CCAGAGACTGTGCAGGTTATG -3'
(R):5'- CCCTGAGAGAAAACTGGTATCCTTG -3'
Posted On 2016-08-04