Incidental Mutation 'R6727:Nova2'
ID 529905
Institutional Source Beutler Lab
Gene Symbol Nova2
Ensembl Gene ENSMUSG00000030411
Gene Name NOVA alternative splicing regulator 2
Synonyms LOC384569
MMRRC Submission 044845-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6727 (G1)
Quality Score 109.008
Status Validated
Chromosome 7
Chromosomal Location 18659813-18699244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 18692419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 516 (T516K)
Ref Sequence ENSEMBL: ENSMUSP00000032571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032571] [ENSMUST00000220302]
AlphaFold D3YVV7
Predicted Effect probably damaging
Transcript: ENSMUST00000032571
AA Change: T516K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032571
Gene: ENSMUSG00000030411
AA Change: T516K

DomainStartEndE-ValueType
KH 31 104 2.19e-13 SMART
KH 129 201 6.95e-16 SMART
low complexity region 232 270 N/A INTRINSIC
low complexity region 290 393 N/A INTRINSIC
KH 405 478 1.94e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181954
Predicted Effect probably damaging
Transcript: ENSMUST00000220302
AA Change: T452K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.2979 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
Validation Efficiency 98% (44/45)
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in postnatal lethality, abolished long term potentiation of the small inhibitory postsynaptic current but not the excitatory postsynaptic current, and no pairing-induced potentiation of small inhibitory postsynatpic currents. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010109A12Rik A G 5: 93,354,434 (GRCm39) probably benign Het
4930563M21Rik C T 9: 55,896,760 (GRCm39) V283I possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Allc T A 12: 28,607,388 (GRCm39) H288L probably damaging Het
Atg16l1 T C 1: 87,702,576 (GRCm39) I279T possibly damaging Het
Atp6v1b1 A G 6: 83,728,857 (GRCm39) probably benign Het
Barhl1 G A 2: 28,805,495 (GRCm39) P66L probably benign Het
Brd8dc T A 18: 34,713,894 (GRCm39) M244L probably benign Het
Cfap58 A T 19: 47,943,856 (GRCm39) D352V probably benign Het
Cyp3a44 T A 5: 145,731,781 (GRCm39) K122* probably null Het
Dnai1 G T 4: 41,625,308 (GRCm39) R424L probably benign Het
Dync1li2 G T 8: 105,167,167 (GRCm39) H79Q probably damaging Het
Fem1b A G 9: 62,704,015 (GRCm39) V415A possibly damaging Het
Fgb C T 3: 82,954,094 (GRCm39) S48N possibly damaging Het
Gm5624 T C 14: 44,799,332 (GRCm39) D31G possibly damaging Het
Gzmn T A 14: 56,403,432 (GRCm39) I226F probably damaging Het
H2-T5 A T 17: 36,476,622 (GRCm39) V284E probably damaging Het
Il31ra T C 13: 112,683,902 (GRCm39) S184G probably damaging Het
Insrr C T 3: 87,720,873 (GRCm39) R1044C probably damaging Het
Kcnj15 A G 16: 95,097,193 (GRCm39) S272G probably damaging Het
Kcnk16 C T 14: 20,312,997 (GRCm39) A106T probably benign Het
Kmt2b A G 7: 30,283,984 (GRCm39) V876A probably damaging Het
Large2 G T 2: 92,201,215 (GRCm39) probably benign Het
Maml2 A T 9: 13,532,847 (GRCm39) probably benign Het
Me1 A G 9: 86,464,851 (GRCm39) L533P possibly damaging Het
Muc16 A G 9: 18,477,986 (GRCm39) probably null Het
Or1l4 T A 2: 37,092,118 (GRCm39) N288K probably damaging Het
Or56b1 T C 7: 104,285,094 (GRCm39) I71T probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Ppp2r1a T A 17: 21,176,087 (GRCm39) V103E probably benign Het
Prl3d3 G A 13: 27,341,147 (GRCm39) probably null Het
Rhbdf1 G T 11: 32,164,042 (GRCm39) A288E possibly damaging Het
Rnf213 T C 11: 119,321,147 (GRCm39) S1202P possibly damaging Het
Slc25a17 A G 15: 81,222,154 (GRCm39) V106A probably benign Het
Slc4a4 T G 5: 89,318,624 (GRCm39) S640A probably benign Het
Smc4 T A 3: 68,924,105 (GRCm39) Y298N probably damaging Het
Tek G T 4: 94,741,732 (GRCm39) G830* probably null Het
Tgfb1 A T 7: 25,388,587 (GRCm39) probably benign Het
Themis T C 10: 28,657,903 (GRCm39) I157T probably damaging Het
Trmt12 A G 15: 58,744,514 (GRCm39) probably benign Het
Trrap T C 5: 144,793,760 (GRCm39) W3654R probably damaging Het
Tspan3 C T 9: 56,054,724 (GRCm39) G108S probably damaging Het
Ugt1a10 T A 1: 87,983,979 (GRCm39) probably null Het
Vps13b A G 15: 35,770,829 (GRCm39) K2091E probably benign Het
Wdr62 A T 7: 29,971,045 (GRCm39) V184D probably damaging Het
Zfp958 C A 8: 4,678,247 (GRCm39) Q90K probably benign Het
Other mutations in Nova2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03088:Nova2 APN 7 18,684,494 (GRCm39) missense unknown
R1529:Nova2 UTSW 7 18,691,479 (GRCm39) missense probably damaging 0.99
R1858:Nova2 UTSW 7 18,692,326 (GRCm39) missense probably damaging 1.00
R5130:Nova2 UTSW 7 18,660,069 (GRCm39) missense unknown
R5402:Nova2 UTSW 7 18,692,371 (GRCm39) missense probably damaging 1.00
R6075:Nova2 UTSW 7 18,691,794 (GRCm39) missense unknown
R6077:Nova2 UTSW 7 18,691,794 (GRCm39) missense unknown
R6132:Nova2 UTSW 7 18,691,794 (GRCm39) missense unknown
R6134:Nova2 UTSW 7 18,691,794 (GRCm39) missense unknown
R7759:Nova2 UTSW 7 18,692,176 (GRCm39) missense
R7895:Nova2 UTSW 7 18,676,270 (GRCm39) missense
Z1176:Nova2 UTSW 7 18,692,374 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCAACACGTTGGCCAGCTAC -3'
(R):5'- TCACACCAAGCTGAAGTCTGG -3'

Sequencing Primer
(F):5'- AATGGCTACCTCGGTGCG -3'
(R):5'- GCTGAAGTCTGGCGGGAG -3'
Posted On 2018-08-01