Mutagenetix > Incidental Mutation

Incidental Mutation 'R6077:Nova2'

482788

Institutional Source

Beutler Lab

Gene Symbol

Nova2

Ensembl Gene

ENSMUSG00000030411

Gene Name

NOVA alternative splicing regulator 2

Synonyms

LOC384569

MMRRC Submission

044238-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6077 (G1)

Quality Score

94.0077

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: 99.6%
10x: 98.2%
20x: 95.0%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	T	11: 100,410,583 (GRCm39)	V132I	probably benign	Het
Adgrb3	A	T	1: 25,133,081 (GRCm39)	L1335*	probably null	Het
Adgre5	A	G	8: 84,454,595 (GRCm39)	S301P	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Aldh1b1	A	G	4: 45,802,525 (GRCm39)	Y21C	possibly damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ankrd7	T	A	6: 18,868,071 (GRCm39)	S112R	probably benign	Het
Arhgap23	T	A	11: 97,382,058 (GRCm39)		probably null	Het
Atp4a	G	A	7: 30,415,344 (GRCm39)	M321I	probably benign	Het
C2cd4d	A	T	3: 94,271,615 (GRCm39)	R294W	probably damaging	Het
Carns1	T	C	19: 4,220,875 (GRCm39)	I352V	probably benign	Het
Cdh17	T	A	4: 11,803,969 (GRCm39)	S547R	probably benign	Het
Cdyl2	G	T	8: 117,316,129 (GRCm39)	N286K	probably damaging	Het
Fam186a	C	A	15: 99,840,584 (GRCm39)	V1887L	possibly damaging	Het
Fat4	C	T	3: 39,056,951 (GRCm39)	R4216C	probably damaging	Het
Fcamr	T	C	1: 130,740,663 (GRCm39)	W361R	probably damaging	Het
Helz2	G	A	2: 180,874,831 (GRCm39)	P1888S	probably benign	Het
Itih1	A	T	14: 30,651,833 (GRCm39)	F840L	possibly damaging	Het
Kansl2	T	C	15: 98,429,312 (GRCm39)	D146G	probably benign	Het
Kcnk18	T	C	19: 59,223,746 (GRCm39)	V297A	probably damaging	Het
Kif1a	T	C	1: 92,982,618 (GRCm39)	T720A	possibly damaging	Het
Kl	C	G	5: 150,876,466 (GRCm39)	F95L	probably damaging	Het
Large2	C	T	2: 92,196,915 (GRCm39)	R423K	probably benign	Het
Lgals3bp	A	G	11: 118,290,568 (GRCm39)	V13A	probably damaging	Het
Lrrd1	A	G	5: 3,900,837 (GRCm39)	I381V	probably benign	Het
Mastl	A	T	2: 23,045,806 (GRCm39)	I23N	probably damaging	Het
Mettl23	T	C	11: 116,739,728 (GRCm39)	V1A	possibly damaging	Het
Mindy2	A	G	9: 70,538,363 (GRCm39)	V324A	probably damaging	Het
Mtmr4	T	A	11: 87,501,845 (GRCm39)	L633Q	probably damaging	Het
Myh1	G	A	11: 67,102,273 (GRCm39)	E855K	probably damaging	Het
Nin	C	T	12: 70,066,006 (GRCm39)	A2026T	probably damaging	Het
Or2w1	A	T	13: 21,317,463 (GRCm39)	I173F	probably benign	Het
Otulin	T	C	15: 27,611,696 (GRCm39)	T166A	probably benign	Het
P2ry14	T	A	3: 59,022,798 (GRCm39)	R230W	probably damaging	Het
Pcsk4	T	C	10: 80,162,073 (GRCm39)	E83G	probably damaging	Het
Raet1e	C	A	10: 22,057,887 (GRCm39)	T218N	possibly damaging	Het
Rsf1	GCGGCGGC	GCGGCGGCGTCGGCGGC	7: 97,229,135 (GRCm39)		probably benign	Het
Safb	G	A	17: 56,909,956 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,527,940 (GRCm39)	N850I	probably damaging	Het
Slc16a4	A	G	3: 107,208,381 (GRCm39)	D297G	possibly damaging	Het
Tcf7l2	A	T	19: 55,905,868 (GRCm39)	K278*	probably null	Het
Tesmin	T	C	19: 3,439,260 (GRCm39)	V104A	possibly damaging	Het
Tiam1	A	G	16: 89,594,918 (GRCm39)		probably null	Het
Tmc4	T	C	7: 3,670,526 (GRCm39)	T522A	probably damaging	Het
Tmprss3	T	A	17: 31,408,141 (GRCm39)	I274F	possibly damaging	Het
Topbp1	A	G	9: 103,210,189 (GRCm39)	K916E	probably damaging	Het
Trdv1	A	G	14: 54,119,513 (GRCm39)	D58G	probably benign	Het
Ube2g2	G	T	10: 77,458,139 (GRCm39)		probably benign	Het
Unc5d	G	T	8: 29,165,335 (GRCm39)	Q747K	possibly damaging	Het
Xpo6	A	G	7: 125,709,124 (GRCm39)	V819A	possibly damaging	Het
Zan	T	A	5: 137,412,559 (GRCm39)		probably benign	Het
Zfp317	T	A	9: 19,558,184 (GRCm39)	W133R	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
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'- GAGGGCATCAACCTGCAAG -3'
(R):5'- GATCTCCACCAGCTCCTTGG -3'

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

Posted On

2017-07-14