Incidental Mutation 'R7063:Vgll2'
ID 548402
Institutional Source Beutler Lab
Gene Symbol Vgll2
Ensembl Gene ENSMUSG00000049641
Gene Name vestigial like family member 2
Synonyms C130057C21Rik, VITO-1, Vito1, Vgl-2
MMRRC Submission 045159-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.796) question?
Stock # R7063 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 51898598-51904567 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51904072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 312 (S312P)
Ref Sequence ENSEMBL: ENSMUSP00000124091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058347] [ENSMUST00000163017]
AlphaFold Q8BGW8
Predicted Effect probably benign
Transcript: ENSMUST00000058347
AA Change: S311P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000050273
Gene: ENSMUSG00000049641
AA Change: S311P

DomainStartEndE-ValueType
low complexity region 42 61 N/A INTRINSIC
Pfam:Vg_Tdu 78 110 7.6e-27 PFAM
low complexity region 192 204 N/A INTRINSIC
low complexity region 206 213 N/A INTRINSIC
low complexity region 245 262 N/A INTRINSIC
low complexity region 269 282 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163017
AA Change: S312P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124091
Gene: ENSMUSG00000049641
AA Change: S312P

DomainStartEndE-ValueType
low complexity region 42 61 N/A INTRINSIC
Pfam:Vg_Tdu 78 108 1.1e-23 PFAM
low complexity region 193 205 N/A INTRINSIC
low complexity region 207 214 N/A INTRINSIC
low complexity region 246 263 N/A INTRINSIC
low complexity region 270 283 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: This gene is a member of the Vestigial-like (Vgl) gene family and is upregulated during muscle differentiation. The product of this gene interacts with and modifies the DNA-binding properties of the transcription factor, TEF-1, and is important for muscle tissue development. Reduced expression of this gene leads to a reduction in the terminal differentiation of muscle cells. Alternate splicing results in multiple protein isoforms. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap35 A G 7: 16,299,038 (GRCm39) V9A probably benign Het
Btbd6 A G 12: 112,941,132 (GRCm39) Y148C probably damaging Het
Casr T C 16: 36,314,936 (GRCm39) I968V probably benign Het
Celf1 T C 2: 90,843,189 (GRCm39) probably null Het
Chst2 G T 9: 95,287,621 (GRCm39) R242S probably benign Het
Clca3a1 T A 3: 144,460,967 (GRCm39) D228V probably damaging Het
Cwf19l2 A G 9: 3,430,532 (GRCm39) Y288C probably benign Het
Cyp2r1 A G 7: 114,152,184 (GRCm39) S49P probably damaging Het
Dnah5 A G 15: 28,233,394 (GRCm39) E251G probably benign Het
Eepd1 A G 9: 25,394,332 (GRCm39) R199G possibly damaging Het
Fat1 C T 8: 45,493,812 (GRCm39) T3986I probably benign Het
Gbp4 G A 5: 105,266,314 (GRCm39) R576C probably damaging Het
Glp1r A G 17: 31,144,532 (GRCm39) Y235C probably damaging Het
Gm6408 T C 5: 146,420,594 (GRCm39) I158T probably benign Het
Gpr89 C G 3: 96,783,014 (GRCm39) R312P probably damaging Het
Idh2 A G 7: 79,745,432 (GRCm39) V403A probably damaging Het
Lclat1 A G 17: 73,546,986 (GRCm39) E301G possibly damaging Het
Lgmn A G 12: 102,368,937 (GRCm39) Y181H probably damaging Het
Lgr5 T C 10: 115,292,639 (GRCm39) Y417C probably damaging Het
Man1a G T 10: 53,906,840 (GRCm39) N311K probably damaging Het
Nat10 G A 2: 103,578,422 (GRCm39) L228F probably benign Het
Or10d3 T G 9: 39,461,411 (GRCm39) Y252S possibly damaging Het
Or10v5 A G 19: 11,805,548 (GRCm39) F281L probably damaging Het
Or5b12b A G 19: 12,861,449 (GRCm39) D68G probably damaging Het
Or5p55 C A 7: 107,567,411 (GRCm39) A269E probably benign Het
Pcmtd2 T A 2: 181,496,776 (GRCm39) Y130* probably null Het
Potefam3f G A 8: 20,479,013 (GRCm39) C7Y Het
Qrfprl A G 6: 65,418,387 (GRCm39) probably benign Het
Rapgef5 A G 12: 117,652,864 (GRCm39) D62G possibly damaging Het
Serpina3m A T 12: 104,357,726 (GRCm39) I217L probably benign Het
Supt16 T C 14: 52,409,505 (GRCm39) R802G possibly damaging Het
Sypl2 A T 3: 108,124,971 (GRCm39) M130K probably benign Het
Tmtc2 A T 10: 105,184,386 (GRCm39) L503Q probably damaging Het
Ubald2 A G 11: 116,325,443 (GRCm39) Q60R probably benign Het
Vav1 C T 17: 57,618,860 (GRCm39) Q673* probably null Het
Vmn1r191 C T 13: 22,362,864 (GRCm39) A297T probably benign Het
Vmn1r7 T A 6: 57,001,418 (GRCm39) I281F possibly damaging Het
Vmn2r108 T C 17: 20,701,410 (GRCm39) Y30C probably damaging Het
Vmn2r16 A G 5: 109,511,650 (GRCm39) N619S probably damaging Het
Vstm5 A G 9: 15,150,549 (GRCm39) probably benign Het
Zfp7 A G 15: 76,775,919 (GRCm39) I654V possibly damaging Het
Zmat2 A G 18: 36,929,627 (GRCm39) N129S probably null Het
Other mutations in Vgll2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02436:Vgll2 APN 10 51,901,318 (GRCm39) nonsense probably null
R1796:Vgll2 UTSW 10 51,901,324 (GRCm39) missense probably damaging 1.00
R5193:Vgll2 UTSW 10 51,904,088 (GRCm39) missense possibly damaging 0.96
R5397:Vgll2 UTSW 10 51,901,262 (GRCm39) missense probably damaging 1.00
R5614:Vgll2 UTSW 10 51,901,318 (GRCm39) nonsense probably null
R5766:Vgll2 UTSW 10 51,903,659 (GRCm39) missense probably damaging 1.00
R5842:Vgll2 UTSW 10 51,901,388 (GRCm39) missense probably damaging 1.00
R7272:Vgll2 UTSW 10 51,903,758 (GRCm39) missense possibly damaging 0.76
R9175:Vgll2 UTSW 10 51,903,635 (GRCm39) missense probably damaging 1.00
Z1176:Vgll2 UTSW 10 51,903,698 (GRCm39) missense possibly damaging 0.94
Z1177:Vgll2 UTSW 10 51,903,904 (GRCm39) missense probably benign 0.34
Predicted Primers PCR Primer
(F):5'- TGACTGCCGTGACACTCTTC -3'
(R):5'- TGCTACTTCCTAAAGACATCTACC -3'

Sequencing Primer
(F):5'- AGCAGTGCACGAGGTCTAC -3'
(R):5'- TCTACCCGTAGAAACAAATGATGG -3'
Posted On 2019-05-13