Incidental Mutation 'R4514:Ighv2-5'
ID 332816
Institutional Source Beutler Lab
Gene Symbol Ighv2-5
Ensembl Gene ENSMUSG00000096498
Gene Name immunoglobulin heavy variable 2-5
Synonyms Gm16593
MMRRC Submission 041588-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.515) question?
Stock # R4514 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 113649102-113649394 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113649216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 79 (N79S)
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: N78S

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100230
Gene: ENSMUSG00000096498
AA Change: N78S

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: N79S

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142302
Gene: ENSMUSG00000096498
AA Change: N79S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 116 1.8e-31 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T G 8: 25,308,152 (GRCm39) T51P probably damaging Het
Akr1c20 A C 13: 4,557,843 (GRCm39) V201G probably damaging Het
Alg9 C T 9: 50,716,654 (GRCm39) T409M possibly damaging Het
Arpp21 T A 9: 112,006,745 (GRCm39) T155S probably damaging Het
Atm T A 9: 53,404,339 (GRCm39) Q1334L probably damaging Het
Bptf G A 11: 106,968,518 (GRCm39) T1055M probably damaging Het
Cd3g C A 9: 44,884,882 (GRCm39) A121S possibly damaging Het
Cenpn A G 8: 117,660,135 (GRCm39) Y68C probably damaging Het
Clock A G 5: 76,378,046 (GRCm39) I618T probably benign Het
Cp A G 3: 20,042,177 (GRCm39) M982V probably damaging Het
Csf3r T A 4: 125,933,653 (GRCm39) S611T possibly damaging Het
Csn3 A G 5: 88,077,997 (GRCm39) T168A unknown Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
D630003M21Rik T C 2: 158,046,722 (GRCm39) T752A probably benign Het
Defb34 A T 8: 19,176,522 (GRCm39) D71V probably damaging Het
Dync1h1 T A 12: 110,623,573 (GRCm39) D3615E possibly damaging Het
Etl4 A T 2: 20,666,709 (GRCm39) T167S probably damaging Het
F5 T A 1: 163,979,566 (GRCm39) probably benign Het
Got1l1 C T 8: 27,688,513 (GRCm39) M279I probably benign Het
Grm7 A G 6: 111,335,265 (GRCm39) T559A possibly damaging Het
Ifit1 A T 19: 34,625,913 (GRCm39) R350* probably null Het
Igkv17-127 A G 6: 67,838,498 (GRCm39) I70V possibly damaging Het
Itga8 T C 2: 12,187,547 (GRCm39) S711G probably benign Het
Kndc1 A G 7: 139,490,202 (GRCm39) T235A probably benign Het
Lct T C 1: 128,228,251 (GRCm39) I1081V probably benign Het
Lrrc8b G T 5: 105,627,819 (GRCm39) C55F probably damaging Het
Lrwd1 T C 5: 136,160,402 (GRCm39) T311A probably benign Het
Mapk14 T C 17: 28,943,798 (GRCm39) F129S probably damaging Het
Mdga2 A G 12: 66,763,496 (GRCm39) I200T probably damaging Het
Mocos T A 18: 24,816,269 (GRCm39) S615R probably damaging Het
Myh4 T C 11: 67,146,395 (GRCm39) V1456A probably benign Het
Myh9 T C 15: 77,648,200 (GRCm39) I1759V probably benign Het
Nat8f5 G A 6: 85,794,405 (GRCm39) T185I possibly damaging Het
Nav3 T C 10: 109,529,943 (GRCm39) I2133V possibly damaging Het
Ncam2 T A 16: 81,309,884 (GRCm39) M458K probably benign Het
Nphp1 T C 2: 127,590,007 (GRCm39) S532G probably benign Het
Oplah A G 15: 76,182,155 (GRCm39) L1035P probably damaging Het
Or4p22 T C 2: 88,317,709 (GRCm39) V211A probably benign Het
Or52h2 C T 7: 103,838,598 (GRCm39) R272H probably benign Het
Pask T A 1: 93,249,855 (GRCm39) Q515L probably benign Het
Poglut1 A T 16: 38,369,778 (GRCm39) F35I probably benign Het
Ppp1ca T G 19: 4,245,054 (GRCm39) I319S probably benign Het
Psg25 T A 7: 18,263,533 (GRCm39) R97* probably null Het
Sars2 T C 7: 28,441,709 (GRCm39) probably null Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Slc16a7 T G 10: 125,069,308 (GRCm39) probably null Het
Slc7a8 C G 14: 54,973,247 (GRCm39) G240A possibly damaging Het
St6gal2 A T 17: 55,790,018 (GRCm39) N351Y probably benign Het
Susd5 T C 9: 113,924,992 (GRCm39) F292L probably benign Het
Tmco5 T A 2: 116,710,795 (GRCm39) D38E probably damaging Het
Tubgcp2 G A 7: 139,575,984 (GRCm39) P893L possibly damaging Het
Uncx A G 5: 139,532,522 (GRCm39) I196V possibly damaging Het
Zeb1 G A 18: 5,759,007 (GRCm39) C138Y probably damaging Het
Zfp609 A G 9: 65,610,977 (GRCm39) I662T possibly damaging Het
Zfp985 G A 4: 147,668,020 (GRCm39) C296Y probably damaging Het
Other mutations in Ighv2-5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02277:Ighv2-5 APN 12 113,649,127 (GRCm39) missense possibly damaging 0.94
R5393:Ighv2-5 UTSW 12 113,649,502 (GRCm39) missense possibly damaging 0.60
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'- ATTCTGAAGTGAACCTGGGATGTC -3'
(R):5'- TATCCCAGGTGCAGCTGAAG -3'

Sequencing Primer
(F):5'- ATGTCATGGTTGGCCTTCAC -3'
(R):5'- CAGGTGCAGCTGAAGCAGTC -3'
Posted On 2015-08-18