Mutagenetix > Incidental Mutation

Incidental Mutation 'R6134:Nova2'

487275

Institutional Source

Beutler Lab

Gene Symbol

Nova2

Ensembl Gene

ENSMUSG00000030411

Gene Name

NOVA alternative splicing regulator 2

Synonyms

LOC384569

MMRRC Submission

044281-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6134 (G1)

Quality Score

137.008

Status

Not validated

Chromosome

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

94% (51/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,767,619 (GRCm39)	E39K	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Aktip	T	A	8: 91,856,388 (GRCm39)	S30C	probably damaging	Het
Anxa10	G	T	8: 62,530,977 (GRCm39)	H78N	probably damaging	Het
Aoah	C	T	13: 21,095,293 (GRCm39)	R196W	probably damaging	Het
Arl4c	A	T	1: 88,629,152 (GRCm39)	W79R	probably damaging	Het
Brd2	A	T	17: 34,332,669 (GRCm39)	D178E	probably benign	Het
Cacna1e	G	A	1: 154,577,037 (GRCm39)	P120L	probably damaging	Het
Cdh16	A	T	8: 105,342,697 (GRCm39)	M17K	probably benign	Het
Cdhr17	A	T	5: 17,029,683 (GRCm39)	D473V	probably damaging	Het
Chit1	A	G	1: 134,071,798 (GRCm39)	T103A	possibly damaging	Het
Clcn3	T	C	8: 61,387,607 (GRCm39)	Y214C	probably damaging	Het
Coch	T	A	12: 51,649,536 (GRCm39)	D282E	probably damaging	Het
Col1a2	C	A	6: 4,538,035 (GRCm39)	S1181R	unknown	Het
Col6a2	T	C	10: 76,442,978 (GRCm39)	D506G	probably damaging	Het
Crx	A	T	7: 15,602,032 (GRCm39)	Y215*	probably null	Het
Fasn	A	T	11: 120,713,012 (GRCm39)	S58T	probably benign	Het
Fhip1a	T	C	3: 85,580,651 (GRCm39)	E518G	possibly damaging	Het
Garem1	A	T	18: 21,262,881 (GRCm39)	D644E	probably benign	Het
H2-Q2	A	C	17: 35,562,217 (GRCm39)	T155P	probably damaging	Het
Insr	A	T	8: 3,242,572 (GRCm39)	I49N	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Lnpep	A	G	17: 17,773,454 (GRCm39)	M639T	probably benign	Het
Lypd11	G	A	7: 24,425,481 (GRCm39)	A3V	probably damaging	Het
Map3k20	C	T	2: 72,240,503 (GRCm39)	S333F	probably damaging	Het
Miga2	A	G	2: 30,261,229 (GRCm39)	S175G	probably benign	Het
Muc3a	A	T	5: 137,244,579 (GRCm39)	I191N	probably damaging	Het
Ncoa2	A	G	1: 13,244,595 (GRCm39)	V701A	probably damaging	Het
Nid2	T	C	14: 19,828,851 (GRCm39)	V565A	probably damaging	Het
Numbl	G	C	7: 26,980,739 (GRCm39)	A574P	probably damaging	Het
Oas3	A	G	5: 120,907,113 (GRCm39)	V508A	unknown	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Pcdhb21	T	A	18: 37,647,461 (GRCm39)	S197T	probably benign	Het
Pck2	T	A	14: 55,781,419 (GRCm39)	M180K	probably damaging	Het
Pgr	T	C	9: 8,900,740 (GRCm39)	V91A	possibly damaging	Het
Phtf1	A	T	3: 103,911,721 (GRCm39)	M643L	probably damaging	Het
Prokr1	T	C	6: 87,565,837 (GRCm39)	T3A	possibly damaging	Het
Ptgs1	T	C	2: 36,141,190 (GRCm39)	Y546H	probably damaging	Het
Rasa1	A	G	13: 85,374,745 (GRCm39)	L742P	probably benign	Het
Rbbp6	T	C	7: 122,596,534 (GRCm39)		probably null	Het
Rgs22	A	G	15: 36,107,194 (GRCm39)	L64P	probably damaging	Het
Rnf213	A	T	11: 119,302,296 (GRCm39)	I407F	probably damaging	Het
Rp1l1	C	T	14: 64,267,545 (GRCm39)	P1044S	probably damaging	Het
Scin	G	A	12: 40,110,578 (GRCm39)	P690L	probably damaging	Het
Septin9	T	C	11: 117,242,987 (GRCm39)	L58P	probably damaging	Het
Slc1a7	A	G	4: 107,869,633 (GRCm39)	E566G	probably damaging	Het
Speer4f1	G	A	5: 17,681,140 (GRCm39)	R6Q	probably benign	Het
Tnxb	A	T	17: 34,890,986 (GRCm39)	Y443F	probably damaging	Het
Trpv1	A	G	11: 73,135,143 (GRCm39)	I79V	probably benign	Het
Ttll6	C	T	11: 96,030,568 (GRCm39)	T245I	possibly damaging	Het
Vmn2r26	T	C	6: 124,038,444 (GRCm39)	I673T	probably damaging	Het
Zfp60	T	C	7: 27,449,323 (GRCm39)	F664L	probably benign	Het

Other mutations in Nova2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GGGCATCAACCTGCAAGAG -3'
(R):5'- GATCTCCACCAGCTCCTTGG -3'

Sequencing Primer
(F):5'- AACCTGCAAGAGCGCGTG -3'
(R):5'- TTCTCGGCCGTCAGGAAG -3'

Posted On

2017-10-10