Mutagenetix > Incidental Mutation

Incidental Mutation 'R2002:Npas2'

269778

Institutional Source

Beutler Lab

Gene Symbol

Npas2

Ensembl Gene

ENSMUSG00000026077

Gene Name

neuronal PAS domain protein 2

Synonyms

bHLHe9, MOP4

MMRRC Submission

040012-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2002 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

39233013-39402321 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39377276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 546 (V546A)

Ref Sequence

ENSEMBL: ENSMUSP00000054719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056815]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000056815
AA Change: V546A

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000054719
Gene: ENSMUSG00000026077
AA Change: V546A

Domain	Start	End	E-Value	Type
HLH	15	65	6.56e-10	SMART
PAS	84	150	4.28e-10	SMART
PAS	239	305	4.03e-6	SMART
PAC	311	354	6.2e-7	SMART
low complexity region	400	419	N/A	INTRINSIC
coiled coil region	510	538	N/A	INTRINSIC
low complexity region	563	583	N/A	INTRINSIC
low complexity region	623	643	N/A	INTRINSIC
low complexity region	745	768	N/A	INTRINSIC
low complexity region	798	816	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172825

Meta Mutation Damage Score

0.0894

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.6%

Validation Efficiency

97% (72/74)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. The encoded protein may play a regulatory role in the acquisition of specific types of memory. It also may function as a part of a molecular clock operative in the mammalian forebrain. [provided by RefSeq, Dec 2014]
PHENOTYPE: Targeted mutation of this gene results in deficits in complex emotional long-term memory tasks [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548G14Rik	T	C	15: 46,489,002 (GRCm39)		noncoding transcript	Het
Abcb4	T	A	5: 8,955,989 (GRCm39)	S98T	probably benign	Het
Acan	T	C	7: 78,750,541 (GRCm39)	S1771P	probably damaging	Het
Acvr1c	T	A	2: 58,205,987 (GRCm39)	Q41L	probably benign	Het
Ak2	T	A	4: 128,902,022 (GRCm39)	S232T	probably benign	Het
Akr1e1	T	A	13: 4,657,564 (GRCm39)		probably benign	Het
Ano7	T	C	1: 93,328,303 (GRCm39)		probably benign	Het
Aox1	T	A	1: 58,086,300 (GRCm39)	H68Q	possibly damaging	Het
Apaf1	A	G	10: 90,897,676 (GRCm39)	V269A	possibly damaging	Het
Apba2	A	T	7: 64,383,290 (GRCm39)	I368F	probably damaging	Het
Armc3	A	G	2: 19,293,747 (GRCm39)	M513V	probably benign	Het
Asb5	G	A	8: 55,036,655 (GRCm39)	V116M	probably damaging	Het
Atg16l2	A	G	7: 100,944,127 (GRCm39)	S280P	possibly damaging	Het
Atp6v0c	G	T	17: 24,383,835 (GRCm39)	T40K	probably damaging	Het
Cdk2ap2	A	G	19: 4,147,903 (GRCm39)	M57V	possibly damaging	Het
Cip2a	T	C	16: 48,826,214 (GRCm39)		probably benign	Het
Ctnnd1	T	C	2: 84,450,704 (GRCm39)	N172S	probably benign	Het
Ddx55	T	A	5: 124,704,503 (GRCm39)	V370E	probably damaging	Het
Ddx6	A	G	9: 44,518,831 (GRCm39)	T48A	probably benign	Het
Dnah10	C	T	5: 124,911,052 (GRCm39)	R4490W	probably damaging	Het
Dspp	T	A	5: 104,326,425 (GRCm39)	S929R	unknown	Het
Erbb3	T	C	10: 128,422,094 (GRCm39)	Y50C	probably benign	Het
Fam209	C	A	2: 172,314,689 (GRCm39)	N59K	probably benign	Het
Fgd3	T	C	13: 49,449,931 (GRCm39)	E106G	probably benign	Het
Frmd4a	A	C	2: 4,577,176 (GRCm39)	K344T	probably damaging	Het
Gbe1	A	G	16: 70,325,814 (GRCm39)	E617G	probably damaging	Het
Gm5089	T	A	14: 122,673,686 (GRCm39)	I12F	unknown	Het
Gm7052	T	A	17: 22,258,920 (GRCm39)		probably benign	Het
Gria1	A	T	11: 56,902,930 (GRCm39)	N24I	possibly damaging	Het
Grin2b	T	C	6: 135,710,243 (GRCm39)	E1101G	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Kcnma1	A	C	14: 23,387,097 (GRCm39)	S982A	probably damaging	Het
Khdrbs3	T	A	15: 68,885,328 (GRCm39)		probably benign	Het
Kif23	A	T	9: 61,834,666 (GRCm39)	C426*	probably null	Het
Lmo7	G	T	14: 102,124,497 (GRCm39)	A319S	probably benign	Het
Ly6c1	T	A	15: 74,920,342 (GRCm39)	T7S	possibly damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Mamdc4	A	T	2: 25,457,244 (GRCm39)	W548R	probably damaging	Het
Mfsd2a	C	T	4: 122,850,609 (GRCm39)	R88Q	probably damaging	Het
Mkrn1	T	C	6: 39,382,737 (GRCm39)	T158A	probably benign	Het
Mroh2b	G	T	15: 4,955,166 (GRCm39)	D720Y	probably damaging	Het
Mycbp2	A	G	14: 103,485,839 (GRCm39)	V1041A	probably damaging	Het
Ncam2	A	T	16: 81,386,586 (GRCm39)	H655L	possibly damaging	Het
Nrxn3	G	A	12: 90,299,089 (GRCm39)	A400T	probably damaging	Het
Oog3	G	T	4: 143,884,675 (GRCm39)	H420Q	possibly damaging	Het
Or3a10	A	T	11: 73,935,865 (GRCm39)	S78R	possibly damaging	Het
Or5ap2	T	A	2: 85,680,744 (GRCm39)	V316E	probably benign	Het
Or8k28	T	C	2: 86,285,817 (GRCm39)	H266R	probably benign	Het
Pak5	T	A	2: 135,958,557 (GRCm39)	H177L	probably benign	Het
Pcca	A	G	14: 123,124,477 (GRCm39)	I683V	probably benign	Het
Pea15a	T	C	1: 172,026,252 (GRCm39)	I90V	probably benign	Het
Plagl1	C	A	10: 13,004,402 (GRCm39)		probably benign	Het
Prmt1	A	G	7: 44,628,148 (GRCm39)	V237A	probably damaging	Het
Ptprz1	T	A	6: 23,027,833 (GRCm39)	Y910*	probably null	Het
Rasal3	T	A	17: 32,612,585 (GRCm39)	T757S	probably damaging	Het
Rbbp8	T	C	18: 11,860,223 (GRCm39)		probably benign	Het
S1pr1	A	G	3: 115,506,544 (GRCm39)	S17P	probably benign	Het
Scel	G	A	14: 103,779,421 (GRCm39)	V131M	probably damaging	Het
Scn2a	G	A	2: 65,512,427 (GRCm39)	R188Q	probably null	Het
Snap29	T	A	16: 17,224,190 (GRCm39)	Y68*	probably null	Het
Spdl1	T	C	11: 34,713,473 (GRCm39)	T199A	probably benign	Het
Srbd1	T	C	17: 86,449,828 (GRCm39)	N14D	probably benign	Het
Ston1	G	A	17: 88,942,957 (GRCm39)	G121D	probably benign	Het
Syt16	G	A	12: 74,281,977 (GRCm39)	G367E	possibly damaging	Het
Tdpoz1	T	C	3: 93,578,710 (GRCm39)	T25A	possibly damaging	Het
Tmem182	T	A	1: 40,845,355 (GRCm39)	Y77N	probably damaging	Het
Tmprss11f	A	T	5: 86,687,627 (GRCm39)		probably benign	Het
Trp73	T	C	4: 154,165,902 (GRCm39)	T56A	probably damaging	Het
Trpm3	A	G	19: 22,959,947 (GRCm39)	K1194R	probably damaging	Het
Ttc39c	T	A	18: 12,830,935 (GRCm39)		probably null	Het
Ube4b	T	C	4: 149,468,254 (GRCm39)	D174G	probably benign	Het
Vmn1r211	A	T	13: 23,035,953 (GRCm39)	M238K	probably damaging	Het
Wsb2	T	A	5: 117,508,798 (GRCm39)	N77K	probably benign	Het
Xkr4	C	T	1: 3,741,318 (GRCm39)	R85Q	probably benign	Het
Zmynd11	T	A	13: 9,739,514 (GRCm39)		probably null	Het

Other mutations in Npas2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02560:Npas2	APN	1	39,373,042 (GRCm39)	splice site	probably benign
IGL02608:Npas2	APN	1	39,384,527 (GRCm39)	missense	probably benign	0.06
IGL02882:Npas2	APN	1	39,352,077 (GRCm39)	missense	probably benign	0.08
IGL02976:Npas2	APN	1	39,326,565 (GRCm39)	missense	probably damaging	1.00
IGL03130:Npas2	APN	1	39,352,109 (GRCm39)	missense	probably damaging	1.00
IGL03297:Npas2	APN	1	39,331,771 (GRCm39)	missense	possibly damaging	0.71
R1263:Npas2	UTSW	1	39,373,849 (GRCm39)	missense	possibly damaging	0.51
R1514:Npas2	UTSW	1	39,350,935 (GRCm39)	missense	possibly damaging	0.82
R1618:Npas2	UTSW	1	39,339,808 (GRCm39)	missense	probably damaging	1.00
R1620:Npas2	UTSW	1	39,372,993 (GRCm39)	missense	possibly damaging	0.68
R1844:Npas2	UTSW	1	39,364,456 (GRCm39)	missense	probably damaging	1.00
R1868:Npas2	UTSW	1	39,339,759 (GRCm39)	missense	probably benign	0.03
R1892:Npas2	UTSW	1	39,384,503 (GRCm39)	missense	probably benign	0.00
R3157:Npas2	UTSW	1	39,386,690 (GRCm39)	missense	possibly damaging	0.92
R3551:Npas2	UTSW	1	39,326,643 (GRCm39)	missense	probably benign	0.05
R4564:Npas2	UTSW	1	39,326,647 (GRCm39)	missense	probably damaging	1.00
R4907:Npas2	UTSW	1	39,401,066 (GRCm39)	missense	unknown
R5044:Npas2	UTSW	1	39,386,587 (GRCm39)	nonsense	probably null
R5621:Npas2	UTSW	1	39,398,794 (GRCm39)	missense	probably benign
R5779:Npas2	UTSW	1	39,326,652 (GRCm39)	missense	possibly damaging	0.48
R5822:Npas2	UTSW	1	39,386,647 (GRCm39)	missense	probably benign	0.00
R6033:Npas2	UTSW	1	39,377,261 (GRCm39)	missense	probably damaging	0.99
R6033:Npas2	UTSW	1	39,377,261 (GRCm39)	missense	probably damaging	0.99
R6155:Npas2	UTSW	1	39,326,557 (GRCm39)	missense	probably damaging	1.00
R6193:Npas2	UTSW	1	39,331,843 (GRCm39)	missense	probably damaging	1.00
R6220:Npas2	UTSW	1	39,375,142 (GRCm39)	missense	probably benign	0.00
R6341:Npas2	UTSW	1	39,339,768 (GRCm39)	missense	probably damaging	0.98
R6656:Npas2	UTSW	1	39,401,029 (GRCm39)	missense	unknown
R6778:Npas2	UTSW	1	39,364,381 (GRCm39)	missense	possibly damaging	0.92
R6803:Npas2	UTSW	1	39,375,130 (GRCm39)	missense	probably benign	0.35
R7165:Npas2	UTSW	1	39,331,798 (GRCm39)	missense	possibly damaging	0.79
R7250:Npas2	UTSW	1	39,377,188 (GRCm39)	missense	probably damaging	1.00
R7268:Npas2	UTSW	1	39,326,658 (GRCm39)	missense	probably damaging	0.98
R7284:Npas2	UTSW	1	39,363,548 (GRCm39)	missense	probably benign	0.36
R7833:Npas2	UTSW	1	39,365,228 (GRCm39)	missense	probably damaging	1.00
R7994:Npas2	UTSW	1	39,367,418 (GRCm39)	missense	possibly damaging	0.86
R8013:Npas2	UTSW	1	39,377,146 (GRCm39)	missense	probably benign
R8054:Npas2	UTSW	1	39,326,652 (GRCm39)	missense	possibly damaging	0.69
R8510:Npas2	UTSW	1	39,326,553 (GRCm39)	missense	probably damaging	1.00
R8683:Npas2	UTSW	1	39,386,708 (GRCm39)	missense	probably benign	0.00
R8738:Npas2	UTSW	1	39,331,797 (GRCm39)	missense	possibly damaging	0.65
R8779:Npas2	UTSW	1	39,377,267 (GRCm39)	missense	probably damaging	0.99
R9283:Npas2	UTSW	1	39,326,689 (GRCm39)	missense	probably damaging	1.00
R9541:Npas2	UTSW	1	39,377,194 (GRCm39)	missense	possibly damaging	0.94
R9675:Npas2	UTSW	1	39,364,446 (GRCm39)	missense	probably damaging	1.00
Z1176:Npas2	UTSW	1	39,375,091 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCCTGAGAACAGCGACCAAG -3'
(R):5'- GGTGGCTGCAAATGCTTAGG -3'

Sequencing Primer
(F):5'- GTGGTCTCAGGCTGAAATAACTC -3'
(R):5'- CTGCAAATGCTTAGGGCTCTCAAG -3'

Posted On

2015-03-06