Incidental Mutation 'R5709:Iglc2'
ID 452148
Institutional Source Beutler Lab
Gene Symbol Iglc2
Ensembl Gene ENSMUSG00000076937
Gene Name immunoglobulin lambda constant 2
Synonyms
MMRRC Submission 043184-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R5709 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 19017286-19017602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19017384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 74 (T74A)
Ref Sequence ENSEMBL: ENSMUSP00000143153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103749] [ENSMUST00000198182]
AlphaFold P01844
Predicted Effect probably benign
Transcript: ENSMUST00000103749
AA Change: T73A

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000100464
Gene: ENSMUSG00000076937
AA Change: T73A

DomainStartEndE-ValueType
IGc1 22 95 4.47e-33 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197046
Predicted Effect probably benign
Transcript: ENSMUST00000197969
Predicted Effect probably benign
Transcript: ENSMUST00000198182
AA Change: T74A

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143153
Gene: ENSMUSG00000076937
AA Change: T74A

DomainStartEndE-ValueType
IGc1 23 96 1.8e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198313
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armt1 T G 10: 4,384,903 (GRCm39) H39Q probably damaging Het
Car14 A T 3: 95,806,300 (GRCm39) L284Q possibly damaging Het
Ccdc154 T C 17: 25,389,118 (GRCm39) S437P probably damaging Het
Dpp9 C T 17: 56,496,393 (GRCm39) V772I probably benign Het
Gm973 A T 1: 59,591,714 (GRCm39) K366I possibly damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Inhbb T A 1: 119,345,260 (GRCm39) Y343F probably damaging Het
Krt13 C T 11: 100,008,469 (GRCm39) G423R unknown Het
Lama3 T G 18: 12,672,856 (GRCm39) M2483R probably damaging Het
Lrrc66 T C 5: 73,766,206 (GRCm39) E279G probably benign Het
Matr3 A G 18: 35,715,015 (GRCm39) E205G probably damaging Het
Mkks G A 2: 136,722,656 (GRCm39) T167I probably benign Het
Mmp24 T A 2: 155,634,462 (GRCm39) Y61N probably damaging Het
Nfkb2 A G 19: 46,298,960 (GRCm39) T665A probably damaging Het
Nlrp3 G A 11: 59,446,574 (GRCm39) W773* probably null Het
Or10d5j A T 9: 39,867,859 (GRCm39) V136E probably damaging Het
Prol1 A T 5: 88,475,711 (GRCm39) R34* probably null Het
Rcn1 T C 2: 105,225,128 (GRCm39) Y109C probably damaging Het
Rint1 T G 5: 24,020,831 (GRCm39) V618G probably damaging Het
Rtkn2 T A 10: 67,837,800 (GRCm39) N117K probably benign Het
Sbno2 T C 10: 79,922,171 (GRCm39) M1V probably null Het
Shb T C 4: 45,458,327 (GRCm39) E279G probably damaging Het
Smarcad1 A G 6: 65,051,746 (GRCm39) D293G probably benign Het
Sohlh2 T C 3: 55,099,723 (GRCm39) L165P probably benign Het
Spred2 T C 11: 19,971,415 (GRCm39) C428R probably damaging Het
Stra8 A T 6: 34,904,697 (GRCm39) D13V possibly damaging Het
Tdrd12 A G 7: 35,175,478 (GRCm39) V976A probably damaging Het
Ttn A G 2: 76,773,731 (GRCm39) S2297P unknown Het
Ttn A G 2: 76,725,002 (GRCm39) probably null Het
Usp1 A G 4: 98,819,360 (GRCm39) D274G probably damaging Het
Vmn1r4 A G 6: 56,933,604 (GRCm39) K36R probably benign Het
Zfp386 T A 12: 116,023,305 (GRCm39) I306N probably benign Het
Zmpste24 T C 4: 120,923,075 (GRCm39) D380G probably benign Het
Other mutations in Iglc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02125:Iglc2 APN 16 19,017,462 (GRCm39) missense probably benign 0.03
IGL02229:Iglc2 APN 16 19,017,483 (GRCm39) missense probably benign 0.04
IGL02264:Iglc2 APN 16 19,017,397 (GRCm39) missense probably damaging 1.00
R0674:Iglc2 UTSW 16 19,017,591 (GRCm39) missense probably benign 0.29
R7394:Iglc2 UTSW 16 19,013,886 (GRCm39) nonsense probably null
R8252:Iglc2 UTSW 16 19,017,520 (GRCm39) nonsense probably null
R9004:Iglc2 UTSW 16 19,017,425 (GRCm39) missense probably benign 0.17
R9121:Iglc2 UTSW 16 19,017,294 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACTGGTAACCATGATCCTCCC -3'
(R):5'- TTATTCGCACAGGTCAGCCC -3'

Sequencing Primer
(F):5'- CCCTCCCATATTGTAAATTCAAAGGG -3'
(R):5'- GTGTTTCCACCTTCCTCTGAGGAG -3'
Posted On 2017-01-03