Incidental Mutation 'R6132:Nova2'
ID 487177
Institutional Source Beutler Lab
Gene Symbol Nova2
Ensembl Gene ENSMUSG00000030411
Gene Name NOVA alternative splicing regulator 2
Synonyms LOC384569
MMRRC Submission 044279-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6132 (G1)
Quality Score 97.0083
Status Not validated
Chromosome 7
Chromosomal Location 18659813-18699244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 18691794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 244 (A244T)
Ref Sequence ENSEMBL: ENSMUSP00000151939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032571] [ENSMUST00000220302]
AlphaFold D3YVV7
Predicted Effect unknown
Transcript: ENSMUST00000032571
AA Change: A308T
SMART Domains Protein: ENSMUSP00000032571
Gene: ENSMUSG00000030411
AA Change: A308T

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
SMART Domains Protein: ENSMUSP00000134257
Gene: ENSMUSG00000108585
AA Change: A244T

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
KH 95 168 2.19e-13 SMART
KH 193 265 6.95e-16 SMART
low complexity region 296 334 N/A INTRINSIC
low complexity region 354 457 N/A INTRINSIC
KH 469 542 1.94e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181954
Predicted Effect unknown
Transcript: ENSMUST00000220302
AA Change: A244T
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (49/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,960,643 (GRCm39) Y702H probably benign Het
Adgrv1 G T 13: 81,654,195 (GRCm39) N2225K probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alkbh5 G T 11: 60,428,821 (GRCm39) probably benign Het
Atp5mc1 A G 11: 95,965,850 (GRCm39) M1T probably null Het
Crebrf C T 17: 26,982,377 (GRCm39) P588S probably benign Het
Ctsr A C 13: 61,309,582 (GRCm39) probably null Het
Cyp2c68 A G 19: 39,691,858 (GRCm39) V355A possibly damaging Het
Ddx52 A G 11: 83,850,283 (GRCm39) K555E possibly damaging Het
Depdc5 T A 5: 33,067,811 (GRCm39) S410T probably damaging Het
Dhx30 A T 9: 109,914,847 (GRCm39) I884N probably damaging Het
Dlg1 A T 16: 31,655,059 (GRCm39) N518I possibly damaging Het
Dnah12 T A 14: 26,439,066 (GRCm39) I506N probably damaging Het
Efcab6 A G 15: 83,917,173 (GRCm39) L129P probably damaging Het
Erap1 A G 13: 74,808,401 (GRCm39) N38D probably benign Het
Esf1 A G 2: 140,001,699 (GRCm39) F383L probably benign Het
Exoc4 A G 6: 33,735,033 (GRCm39) E550G probably damaging Het
Fbxo44 G A 4: 148,240,565 (GRCm39) T221I probably benign Het
Gal3st2b A T 1: 93,867,688 (GRCm39) M112L possibly damaging Het
Golph3l C G 3: 95,499,145 (GRCm39) P96A probably benign Het
Gprc6a T A 10: 51,491,356 (GRCm39) I727F possibly damaging Het
Grin3b T C 10: 79,812,274 (GRCm39) L479P probably damaging Het
Kdm5a C T 6: 120,351,892 (GRCm39) H161Y probably damaging Het
Lman2 A G 13: 55,510,038 (GRCm39) S73P probably benign Het
Map3k19 T C 1: 127,778,213 (GRCm39) N4S possibly damaging Het
Mkln1 G A 6: 31,408,155 (GRCm39) V161M probably damaging Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Nrcam T A 12: 44,617,007 (GRCm39) Y668N probably damaging Het
Oacyl G T 18: 65,859,426 (GRCm39) G255W probably damaging Het
Omd A C 13: 49,743,843 (GRCm39) I298L probably damaging Het
Or5ac19 A G 16: 59,089,367 (GRCm39) V221A probably damaging Het
Or5ak24 A T 2: 85,260,490 (GRCm39) S228T probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otor A T 2: 142,920,520 (GRCm39) D34V probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pwwp2a A G 11: 43,596,455 (GRCm39) Y540C probably damaging Het
Rttn T A 18: 89,133,770 (GRCm39) probably null Het
S1pr4 G A 10: 81,335,030 (GRCm39) A148V probably benign Het
Scn10a C T 9: 119,442,761 (GRCm39) V1495M possibly damaging Het
Sel1l3 T C 5: 53,357,531 (GRCm39) K154E possibly damaging Het
Sema3a T G 5: 13,573,142 (GRCm39) probably null Het
Slf2 T A 19: 44,949,300 (GRCm39) N870K possibly damaging Het
Spmip6 C T 4: 41,517,160 (GRCm39) M1I probably null Het
Syne2 T C 12: 75,991,921 (GRCm39) V1962A probably benign Het
Tarbp1 T A 8: 127,161,548 (GRCm39) I1219F probably benign Het
Tet1 A C 10: 62,649,079 (GRCm39) C173W probably damaging Het
Tnn A G 1: 159,973,641 (GRCm39) F242S probably damaging Het
Tollip A G 7: 141,443,334 (GRCm39) S174P probably benign Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn2r106 T C 17: 20,488,666 (GRCm39) T578A probably benign Het
Zfp457 G T 13: 67,441,360 (GRCm39) S309* probably null 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
R6134:Nova2 UTSW 7 18,691,794 (GRCm39) missense unknown
R6727:Nova2 UTSW 7 18,692,419 (GRCm39) missense probably damaging 1.00
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'- GCATCAACCTGCAAGAGCG -3'
(R):5'- GATCTCCACCAGCTCCTTGG -3'

Sequencing Primer
(F):5'- AAGAGCGCGTGGTGACC -3'
(R):5'- TTCTCGGCCGTCAGGAAG -3'
Posted On 2017-10-10