Mutagenetix > Incidental Mutation

Incidental Mutation 'R2871:Npas3'

266608

Institutional Source

Beutler Lab

Gene Symbol

Npas3

Ensembl Gene

ENSMUSG00000021010

Gene Name

neuronal PAS domain protein 3

Synonyms

bHLHe12, 4930423H22Rik

MMRRC Submission

040459-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R2871 (G1)

Quality Score

207

Status

Not validated

Chromosome

Chromosomal Location

53294940-54118958 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 54114796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 542 (R542*)

Ref Sequence

ENSEMBL: ENSMUSP00000152411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101432] [ENSMUST00000223057] [ENSMUST00000223358]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000101432
AA Change: R573*

SMART Domains

Protein: ENSMUSP00000098975
Gene: ENSMUSG00000021010
AA Change: R573*

Domain	Start	End	E-Value	Type
HLH	64	119	1.34e-6	SMART
PAS	154	220	8.69e-11	SMART
low complexity region	234	256	N/A	INTRINSIC
PAS	326	392	7.4e-5	SMART
PAC	398	441	2.46e-1	SMART
low complexity region	461	477	N/A	INTRINSIC
low complexity region	524	544	N/A	INTRINSIC
low complexity region	598	627	N/A	INTRINSIC
low complexity region	696	709	N/A	INTRINSIC
low complexity region	739	754	N/A	INTRINSIC
low complexity region	759	773	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185390

Predicted Effect

probably null
Transcript: ENSMUST00000223057
AA Change: R555*

Predicted Effect

probably null
Transcript: ENSMUST00000223358
AA Change: R542*

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and mental retardation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for some knock-out alleles exhibit abnormal behavior and nervous system morphology. Mice homozygous for another knock-out allele exhibit defective lung branching morphogenesis and die shortly after birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Akap8l	G	A	17: 32,557,416 (GRCm39)	T65I	possibly damaging	Het
Amdhd2	A	G	17: 24,376,829 (GRCm39)		probably benign	Het
Arid4a	T	A	12: 71,069,034 (GRCm39)		probably null	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
C030034I22Rik	T	A	17: 69,725,106 (GRCm39)		noncoding transcript	Het
Ccnb1-ps	C	A	7: 41,755,499 (GRCm39)		noncoding transcript	Het
Cfap54	A	T	10: 92,757,281 (GRCm39)	F273I	possibly damaging	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Eml5	C	T	12: 98,831,660 (GRCm39)	D433N	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Homo
Ftdc1	A	T	16: 58,434,342 (GRCm39)	I125K	probably benign	Het
Gm21759	T	A	5: 8,230,863 (GRCm39)		probably benign	Het
Gm5454	C	A	13: 103,494,031 (GRCm39)		noncoding transcript	Het
Gm9874	A	T	17: 30,704,763 (GRCm39)		probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Grid2ip	C	A	5: 143,343,684 (GRCm39)	Q127K	probably benign	Het
Habp2	T	A	19: 56,276,423 (GRCm39)		probably benign	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Ighv2-2	G	A	12: 113,552,118 (GRCm39)	T40I	possibly damaging	Het
Kcnk10	T	A	12: 98,401,072 (GRCm39)	R520S	probably benign	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Homo
Kpna7	T	C	5: 144,930,745 (GRCm39)	T367A	probably benign	Het
Lpo	A	G	11: 87,707,350 (GRCm39)	I221T	possibly damaging	Het
Lrrn3	T	C	12: 41,502,722 (GRCm39)	I532V	probably benign	Het
Mapk7	C	A	11: 61,381,038 (GRCm39)		probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mki67	G	A	7: 135,309,878 (GRCm39)	P191L	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678 (GRCm39)	P65L	possibly damaging	Het
Msh2	C	A	17: 87,993,012 (GRCm39)	Q314K	possibly damaging	Het
Mtm1	T	C	X: 70,339,968 (GRCm39)		probably benign	Homo
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nav1	A	G	1: 135,388,495 (GRCm39)		silent	Het
Nell1	A	T	7: 49,899,405 (GRCm39)		probably benign	Het
Nlrp4b	C	T	7: 10,444,170 (GRCm39)	Q40*	probably null	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or13a17	A	G	7: 140,271,198 (GRCm39)	I127V	possibly damaging	Het
Or13j1	C	A	4: 43,706,458 (GRCm39)	V37L	probably benign	Het
Or5t16	A	T	2: 86,819,192 (GRCm39)	C109*	probably null	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pcnx3	A	T	19: 5,733,774 (GRCm39)		probably benign	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Pkp4	C	A	2: 59,138,500 (GRCm39)	T250K	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Homo
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Psmd13	A	T	7: 140,466,968 (GRCm39)	T116S	probably damaging	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Rnf6	T	C	5: 146,147,215 (GRCm39)	Y601C	probably benign	Het
Rps6kc1	T	C	1: 190,631,766 (GRCm39)	I48M	probably damaging	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Son	A	G	16: 91,461,205 (GRCm39)		probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vmn2r70	T	A	7: 85,208,227 (GRCm39)	Y750F	probably damaging	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	Het

Other mutations in Npas3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Npas3	APN	12	54,050,343 (GRCm39)	missense	probably damaging	1.00
IGL01330:Npas3	APN	12	54,095,602 (GRCm39)	missense	probably damaging	1.00
IGL01376:Npas3	APN	12	54,091,369 (GRCm39)	missense	probably benign	0.01
IGL01634:Npas3	APN	12	53,993,946 (GRCm39)	missense	probably damaging	1.00
IGL02456:Npas3	APN	12	54,095,550 (GRCm39)	missense	probably damaging	0.99
IGL02663:Npas3	APN	12	54,115,691 (GRCm39)	missense	probably damaging	1.00
IGL02731:Npas3	APN	12	54,114,578 (GRCm39)	missense	probably benign	0.01
IGL02955:Npas3	APN	12	53,548,048 (GRCm39)	missense	probably damaging	0.96
IGL03001:Npas3	APN	12	53,547,975 (GRCm39)	missense	probably damaging	1.00
IGL03047:Npas3	APN	12	53,878,470 (GRCm39)	splice site	probably benign
ANU05:Npas3	UTSW	12	54,114,857 (GRCm39)	missense	possibly damaging	0.49
IGL02837:Npas3	UTSW	12	53,993,980 (GRCm39)	missense	possibly damaging	0.79
R0042:Npas3	UTSW	12	54,095,624 (GRCm39)	missense	probably damaging	1.00
R0042:Npas3	UTSW	12	54,095,624 (GRCm39)	missense	probably damaging	1.00
R0396:Npas3	UTSW	12	53,878,528 (GRCm39)	missense	probably damaging	1.00
R1687:Npas3	UTSW	12	54,095,658 (GRCm39)	splice site	probably null
R1863:Npas3	UTSW	12	54,115,609 (GRCm39)	missense	probably damaging	1.00
R2004:Npas3	UTSW	12	54,114,680 (GRCm39)	missense	possibly damaging	0.63
R2047:Npas3	UTSW	12	54,115,612 (GRCm39)	missense	probably damaging	0.99
R2049:Npas3	UTSW	12	54,108,871 (GRCm39)	missense	probably damaging	1.00
R2278:Npas3	UTSW	12	53,687,285 (GRCm39)	missense	possibly damaging	0.92
R2323:Npas3	UTSW	12	54,115,129 (GRCm39)	missense	probably damaging	1.00
R2871:Npas3	UTSW	12	54,114,796 (GRCm39)	nonsense	probably null
R3116:Npas3	UTSW	12	54,114,508 (GRCm39)	splice site	probably null
R3431:Npas3	UTSW	12	54,115,832 (GRCm39)	missense	probably damaging	0.99
R3731:Npas3	UTSW	12	53,401,175 (GRCm39)	missense	probably benign	0.11
R3767:Npas3	UTSW	12	54,115,857 (GRCm39)	makesense	probably null
R4332:Npas3	UTSW	12	54,108,852 (GRCm39)	missense	probably damaging	0.99
R4593:Npas3	UTSW	12	54,115,280 (GRCm39)	missense	probably benign	0.08
R4601:Npas3	UTSW	12	54,091,361 (GRCm39)	missense	probably damaging	0.99
R4654:Npas3	UTSW	12	54,108,915 (GRCm39)	critical splice donor site	probably null
R4946:Npas3	UTSW	12	54,112,618 (GRCm39)	missense	probably damaging	1.00
R5140:Npas3	UTSW	12	53,547,897 (GRCm39)	nonsense	probably null
R5302:Npas3	UTSW	12	54,115,619 (GRCm39)	missense	probably damaging	1.00
R5524:Npas3	UTSW	12	54,115,721 (GRCm39)	missense	possibly damaging	0.64
R5735:Npas3	UTSW	12	54,050,262 (GRCm39)	missense	probably benign	0.00
R6252:Npas3	UTSW	12	54,115,673 (GRCm39)	missense	probably damaging	1.00
R6438:Npas3	UTSW	12	54,115,481 (GRCm39)	missense	probably damaging	0.99
R6987:Npas3	UTSW	12	54,115,036 (GRCm39)	missense	possibly damaging	0.94
R6994:Npas3	UTSW	12	54,115,576 (GRCm39)	missense	probably damaging	0.96
R7304:Npas3	UTSW	12	54,115,824 (GRCm39)	missense	probably damaging	1.00
R7684:Npas3	UTSW	12	54,115,609 (GRCm39)	missense	probably damaging	1.00
R7724:Npas3	UTSW	12	54,115,124 (GRCm39)	missense	possibly damaging	0.90
R7739:Npas3	UTSW	12	54,115,501 (GRCm39)	missense	probably damaging	1.00
R7826:Npas3	UTSW	12	53,878,539 (GRCm39)	missense	possibly damaging	0.92
R8017:Npas3	UTSW	12	54,091,462 (GRCm39)	missense	probably damaging	1.00
R8019:Npas3	UTSW	12	54,091,462 (GRCm39)	missense	probably damaging	1.00
R8034:Npas3	UTSW	12	53,687,312 (GRCm39)	missense	probably damaging	1.00
R8422:Npas3	UTSW	12	54,115,292 (GRCm39)	missense	probably benign
R9172:Npas3	UTSW	12	54,112,653 (GRCm39)	missense	probably benign	0.08
R9207:Npas3	UTSW	12	54,114,818 (GRCm39)	missense	possibly damaging	0.87
R9774:Npas3	UTSW	12	53,994,108 (GRCm39)	missense	probably damaging	1.00
X0003:Npas3	UTSW	12	54,091,511 (GRCm39)	splice site	probably null
X0064:Npas3	UTSW	12	53,401,167 (GRCm39)	missense	probably damaging	0.96
Z1176:Npas3	UTSW	12	53,547,963 (GRCm39)	missense	probably damaging	0.99
Z1177:Npas3	UTSW	12	53,993,989 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAACTGCAACGACGATGG -3'
(R):5'- TTGATCTTGAGCACAGAGGCG -3'

Sequencing Primer
(F):5'- GCAACGACGATGGCCACAG -3'
(R):5'- TGCGGCGATGACAGCAG -3'

Posted On

2015-02-18