Incidental Mutation 'R6075:Nova2'
ID 482697
Institutional Source Beutler Lab
Gene Symbol Nova2
Ensembl Gene ENSMUSG00000030411
Gene Name NOVA alternative splicing regulator 2
Synonyms LOC384569
MMRRC Submission 044236-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6075 (G1)
Quality Score 125.008
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: 98.0%
  • 20x: 94.1%
Validation Efficiency
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
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Areg A T 5: 91,291,456 (GRCm39) K133M probably damaging Het
Atxn2l A T 7: 126,091,689 (GRCm39) D1076E possibly damaging Het
Barhl1 T C 2: 28,805,231 (GRCm39) Y154C probably damaging Het
BC048507 A G 13: 68,011,823 (GRCm39) T67A probably benign Het
Cacna1g T A 11: 94,307,491 (GRCm39) I1746F probably damaging Het
Ccdc34 T C 2: 109,874,580 (GRCm39) I313T possibly damaging Het
Cma1 T A 14: 56,179,771 (GRCm39) I138F probably damaging Het
Col5a2 A G 1: 45,542,008 (GRCm39) S23P unknown Het
Csmd2 C A 4: 128,380,658 (GRCm39) S2071R probably benign Het
Cyp2j11 T G 4: 96,233,322 (GRCm39) N125H probably benign Het
Dchs2 A G 3: 83,262,368 (GRCm39) R2879G possibly damaging Het
Dnah11 A T 12: 118,068,586 (GRCm39) C1591S probably damaging Het
Dock9 C T 14: 121,783,385 (GRCm39) R2038H probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fbxo21 G A 5: 118,126,948 (GRCm39) R233H probably damaging Het
Firrm T C 1: 163,805,656 (GRCm39) Y316C probably damaging Het
Gm6526 A G 14: 43,986,331 (GRCm39) I86V probably damaging Het
Gpr107 T A 2: 31,042,384 (GRCm39) V5E probably benign Het
Hat1 A T 2: 71,240,585 (GRCm39) D93V probably benign Het
Kctd21 T A 7: 96,996,614 (GRCm39) L29Q probably damaging Het
Kl C G 5: 150,876,466 (GRCm39) F95L probably damaging Het
Lsamp A G 16: 41,954,788 (GRCm39) K229E probably benign Het
Mcm5 A G 8: 75,840,825 (GRCm39) D210G probably damaging Het
Mdn1 T C 4: 32,689,581 (GRCm39) V930A possibly damaging Het
Megf6 T A 4: 154,347,056 (GRCm39) C652* probably null Het
Nae1 A T 8: 105,251,001 (GRCm39) L196H possibly damaging Het
Ncor1 G T 11: 62,208,675 (GRCm39) D156E probably damaging Het
Nop14 A T 5: 34,817,235 (GRCm39) V52E probably damaging Het
Parp14 A T 16: 35,677,389 (GRCm39) C860S probably damaging Het
Ptpn4 T C 1: 119,692,866 (GRCm39) Y161C probably damaging Het
Ptpn9 T A 9: 56,968,430 (GRCm39) M590K probably benign Het
Ptprq A G 10: 107,361,621 (GRCm39) I2130T probably damaging Het
Pudp C A 18: 50,701,299 (GRCm39) G145W probably damaging Het
Pxk A G 14: 8,150,964 (GRCm38) K423R probably benign Het
Ryr1 A G 7: 28,786,863 (GRCm39) S1584P probably damaging Het
Scap G A 9: 110,207,845 (GRCm39) R518H probably damaging Het
Slc5a12 T C 2: 110,447,092 (GRCm39) L200P probably damaging Het
Sntg1 T A 1: 8,749,338 (GRCm39) *72Y probably null Het
Speer4f1 A C 5: 17,684,482 (GRCm39) Q170P possibly damaging Het
Taar7d A C 10: 23,903,558 (GRCm39) I147L probably benign Het
Tet2 T C 3: 133,177,196 (GRCm39) K1284E possibly damaging Het
Trpm2 A C 10: 77,770,877 (GRCm39) probably null Het
Washc2 T A 6: 116,204,327 (GRCm39) S412T probably benign Het
Zfyve26 A G 12: 79,340,628 (GRCm39) V82A possibly damaging 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
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
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'- GGCATCAACCTGCAAGAGC -3'
(R):5'- GATCTCCACCAGCTCCTTGG -3'
Posted On 2017-07-14