Incidental Mutation 'R5402:Nova2'
ID430041
Institutional Source Beutler Lab
Gene Symbol Nova2
Ensembl Gene ENSMUSG00000030411
Gene Nameneuro-oncological ventral antigen 2
SynonymsLOC384569
MMRRC Submission 042973-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5402 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location18925888-18965319 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 18958446 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 500 (T500K)
Ref Sequence ENSEMBL: ENSMUSP00000032571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032571] [ENSMUST00000220302]
Predicted Effect probably damaging
Transcript: ENSMUST00000032571
AA Change: T500K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032571
Gene: ENSMUSG00000030411
AA Change: T500K

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: T436K

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 probably damaging
Transcript: ENSMUST00000220302
AA Change: T436K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,459,715 D4079E probably benign Het
Bcar1 T C 8: 111,714,330 D344G probably damaging Het
Car9 A G 4: 43,510,213 N265S probably damaging Het
Ccr7 A G 11: 99,145,734 S121P possibly damaging Het
Cgnl1 A G 9: 71,629,321 L1278P probably damaging Het
Chst9 A T 18: 15,452,815 S230R probably damaging Het
Cped1 G A 6: 22,143,952 V566M probably benign Het
Csf2 A T 11: 54,247,663 Y117* probably null Het
Cwf19l1 C T 19: 44,133,085 probably null Het
Cyp2d34 C T 15: 82,619,086 G69D probably damaging Het
Dync2h1 A T 9: 7,114,949 V170E probably damaging Het
Ehbp1l1 T A 19: 5,716,320 T388S possibly damaging Het
Etfa T C 9: 55,454,739 I329M probably benign Het
Flt4 AC ACC 11: 49,651,034 probably null Het
Fmnl2 G A 2: 53,128,782 V1078I probably damaging Het
Fnip2 A G 3: 79,480,943 L797P possibly damaging Het
Gm10130 A G 2: 150,362,966 I67V probably benign Het
Gm13103 G A 4: 143,851,655 probably null Het
Gmeb2 A T 2: 181,255,957 probably null Het
Greb1l A G 18: 10,537,169 T1045A probably benign Het
Hapln1 A G 13: 89,605,411 N232S probably benign Het
Hibadh A T 6: 52,546,980 M311K probably benign Het
Hus1 C T 11: 9,010,240 probably null Het
Il31ra T C 13: 112,524,135 E640G probably benign Het
L3mbtl4 T C 17: 68,455,774 F101L probably damaging Het
Lbr A T 1: 181,819,961 M417K probably benign Het
Lrig3 T G 10: 126,008,740 L691R probably damaging Het
Mcm3ap T A 10: 76,483,314 F792Y probably benign Het
Mst1 T C 9: 108,084,209 probably null Het
Nxph4 A T 10: 127,526,264 C253S probably damaging Het
Olfr1193 T A 2: 88,678,148 S98T possibly damaging Het
Olfr31 T C 14: 14,328,878 Y256H probably damaging Het
Pcdhga3 G A 18: 37,675,694 R400Q probably benign Het
Pidd1 C A 7: 141,438,594 A915S probably damaging Het
Plat T G 8: 22,772,722 W148G probably damaging Het
Polr3a T C 14: 24,454,941 I1084V possibly damaging Het
Ptdss1 A G 13: 66,933,599 D31G possibly damaging Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Samd8 A G 14: 21,775,168 D64G probably damaging Het
Scgb1b20 A G 7: 33,373,231 probably null Het
Sh3bp5 C A 14: 31,377,495 R265L probably benign Het
Slc25a23 T C 17: 57,053,336 I269V probably benign Het
Slc35f4 A T 14: 49,318,874 S141T probably damaging Het
Srgap1 T C 10: 121,785,760 M966V probably benign Het
Syne2 T A 12: 76,059,439 V5526E probably damaging Het
Tcaf3 A G 6: 42,591,926 S596P probably benign Het
Tg T A 15: 66,739,168 I356N probably damaging Het
Ttc6 C T 12: 57,737,031 R1759* probably null Het
Wdsub1 T C 2: 59,870,478 N138D probably benign Het
Other mutations in Nova2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03088:Nova2 APN 7 18950569 missense unknown
R1529:Nova2 UTSW 7 18957554 missense probably damaging 0.99
R1858:Nova2 UTSW 7 18958401 missense probably damaging 1.00
R5130:Nova2 UTSW 7 18926144 missense unknown
R6075:Nova2 UTSW 7 18957869 missense unknown
R6077:Nova2 UTSW 7 18957869 missense unknown
R6132:Nova2 UTSW 7 18957869 missense unknown
R6134:Nova2 UTSW 7 18957869 missense unknown
R6727:Nova2 UTSW 7 18958494 missense probably damaging 1.00
R7759:Nova2 UTSW 7 18958251 missense
R7895:Nova2 UTSW 7 18942345 missense
R7978:Nova2 UTSW 7 18942345 missense
Predicted Primers PCR Primer
(F):5'- TCAACACGTTGGCCAGCTAC -3'
(R):5'- TCACACCAAGCTGAAGTCTGG -3'

Sequencing Primer
(F):5'- AATGGCTACCTCGGTGCG -3'
(R):5'- GCTGAAGTCTGGCGGGAG -3'
Posted On2016-09-06