Mutagenetix > Incidental Mutation

Incidental Mutation 'R7284:Npas2'

565838

Institutional Source

Beutler Lab

Gene Symbol

Npas2

Ensembl Gene

ENSMUSG00000026077

Gene Name

neuronal PAS domain protein 2

Synonyms

bHLHe9, MOP4

MMRRC Submission

045392-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39193731-39363236 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39324467 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 209 (D209G)

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: D209G

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000054719
Gene: ENSMUSG00000026077
AA Change: D209G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,734,583 (GRCm38)	H942Q	probably benign	Het
2900092C05Rik	G	T	7: 12,512,678 (GRCm38)	E34*	probably null	Het
4933421I07Rik	C	T	7: 42,447,980 (GRCm38)	R30H	probably damaging	Het
AB124611	C	A	9: 21,539,104 (GRCm38)	Q158K	probably benign	Het
Abcc3	C	T	11: 94,357,047 (GRCm38)	A1207T	probably benign	Het
Abcc9	A	T	6: 142,682,917 (GRCm38)	L367Q	probably damaging	Het
Aftph	T	C	11: 20,726,812 (GRCm38)	K266E	probably benign	Het
Akap9	T	A	5: 3,956,246 (GRCm38)	D190E	probably damaging	Het
Angel1	G	T	12: 86,720,524 (GRCm38)	D359E	probably damaging	Het
Ano6	T	C	15: 95,948,303 (GRCm38)	I474T	probably damaging	Het
Atp2c1	A	T	9: 105,520,809 (GRCm38)		probably null	Het
Best1	T	C	19: 9,986,373 (GRCm38)		probably null	Het
Bhlha9	A	G	11: 76,672,666 (GRCm38)	S40G	probably benign	Het
Cabin1	G	A	10: 75,694,834 (GRCm38)	R178C		Het
Ccnb1ip1	A	G	14: 50,792,279 (GRCm38)	Y109H	probably damaging	Het
Col14a1	T	C	15: 55,518,319 (GRCm38)	S1763P	probably damaging	Het
Dars	T	C	1: 128,372,267 (GRCm38)	T327A	probably benign	Het
Dhx8	T	C	11: 101,754,822 (GRCm38)	Y889H	probably damaging	Het
Dlg4	T	A	11: 70,042,082 (GRCm38)	Y523*	probably null	Het
Dnah10	A	T	5: 124,832,598 (GRCm38)	D4484V	probably benign	Het
Dnah9	A	T	11: 65,990,476 (GRCm38)	M2591K	probably damaging	Het
Dock2	T	C	11: 34,230,672 (GRCm38)	E1715G	probably benign	Het
Dym	A	G	18: 75,119,171 (GRCm38)	Y336C	possibly damaging	Het
Ezh2	A	G	6: 47,544,519 (GRCm38)	M439T	probably benign	Het
Folr1	T	G	7: 101,859,470 (GRCm38)	N83H	possibly damaging	Het
Ganab	T	C	19: 8,912,540 (GRCm38)	L656P	probably damaging	Het
Gmnc	T	C	16: 26,960,792 (GRCm38)	H161R	probably benign	Het
Gria4	A	G	9: 4,472,017 (GRCm38)	Y491H	probably damaging	Het
Heatr3	T	A	8: 88,156,774 (GRCm38)	C412S	possibly damaging	Het
Hmgcr	A	C	13: 96,652,665 (GRCm38)	V716G	probably damaging	Het
Igsf9	A	G	1: 172,496,912 (GRCm38)	D799G	probably damaging	Het
Ikbkb	T	C	8: 22,668,960 (GRCm38)	T501A	probably benign	Het
Kbtbd3	C	T	9: 4,330,690 (GRCm38)	R355*	probably null	Het
Kcna7	T	A	7: 45,409,228 (GRCm38)	I313N	probably damaging	Het
Kirrel	A	C	3: 87,083,387 (GRCm38)	D709E	probably benign	Het
Klb	T	A	5: 65,383,478 (GRCm38)	S971R	probably benign	Het
Krtap4-13	A	T	11: 99,809,412 (GRCm38)	C140*	probably null	Het
Lacc1	A	T	14: 77,030,869 (GRCm38)	L334Q	probably damaging	Het
Map6d1	T	A	16: 20,241,025 (GRCm38)	R97*	probably null	Het
Mgat5b	T	C	11: 116,944,920 (GRCm38)	S129P	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Myh9	G	A	15: 77,787,596 (GRCm38)	R432C	probably damaging	Het
Ncf4	A	G	15: 78,260,702 (GRCm38)	T236A	probably benign	Het
Neb	T	C	2: 52,258,792 (GRCm38)	D2581G	probably damaging	Het
Nid1	T	A	13: 13,489,090 (GRCm38)	M778K	probably benign	Het
Nploc4	C	T	11: 120,416,370 (GRCm38)	V181I	possibly damaging	Het
Nrcam	A	T	12: 44,564,034 (GRCm38)	I506F	probably damaging	Het
Olfr197	A	G	16: 59,185,968 (GRCm38)	*172Q	probably null	Het
Olfr692	T	A	7: 105,368,545 (GRCm38)	M73K	probably damaging	Het
Olfr803	T	C	10: 129,691,351 (GRCm38)	N230S	probably benign	Het
Pask	T	A	1: 93,320,669 (GRCm38)	Q970L	probably benign	Het
Pfkfb4	T	C	9: 109,011,240 (GRCm38)	I308T	possibly damaging	Het
Pla2g4d	A	T	2: 120,284,136 (GRCm38)	L38Q	probably damaging	Het
Pld1	A	G	3: 28,131,733 (GRCm38)	T1036A	possibly damaging	Het
Pom121l2	A	G	13: 21,982,605 (GRCm38)	T349A	probably damaging	Het
Ppp1r13b	A	G	12: 111,834,966 (GRCm38)	I551T	possibly damaging	Het
Prps1l1	A	G	12: 34,985,318 (GRCm38)	N144S	possibly damaging	Het
Prss56	A	G	1: 87,185,401 (GRCm38)	N179S	probably null	Het
Prune2	T	C	19: 17,119,886 (GRCm38)	L918P	probably damaging	Het
Ptprz1	C	T	6: 23,000,098 (GRCm38)	T729I	probably damaging	Het
Rrp7a	T	C	15: 83,121,870 (GRCm38)	T60A	probably damaging	Het
Snx27	A	G	3: 94,524,191 (GRCm38)	Y299H	probably damaging	Het
Spaca3	G	T	11: 80,864,021 (GRCm38)	R96L	possibly damaging	Het
Stat1	A	G	1: 52,148,922 (GRCm38)	N495S	probably benign	Het
Tas2r130	T	C	6: 131,630,307 (GRCm38)	N175S	probably benign	Het
Tcaf2	A	G	6: 42,629,538 (GRCm38)	L494P	probably damaging	Het
Tdrd12	C	A	7: 35,480,136 (GRCm38)		probably null	Het
Thbs1	A	G	2: 118,119,356 (GRCm38)	N604S	probably damaging	Het
Togaram1	T	C	12: 65,008,680 (GRCm38)	F1482L	probably benign	Het
Trhr2	A	T	8: 122,360,375 (GRCm38)	S109T	probably damaging	Het
Trpc3	A	T	3: 36,624,413 (GRCm38)	M841K	probably damaging	Het
Tubgcp5	C	T	7: 55,823,567 (GRCm38)	R798C	probably benign	Het
Xirp2	T	A	2: 67,516,829 (GRCm38)	M3138K	probably benign	Het
Zdhhc4	G	A	5: 143,321,891 (GRCm38)	T125I	probably benign	Het
Zfp239	T	A	6: 117,871,755 (GRCm38)	C151*	probably null	Het
Zfp473	C	T	7: 44,733,203 (GRCm38)	E569K	not run	Het
Zzef1	T	A	11: 72,886,690 (GRCm38)	D1782E	probably damaging	Het

Other mutations in Npas2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02560:Npas2	APN	1	39,333,961 (GRCm38)	splice site	probably benign
IGL02608:Npas2	APN	1	39,345,446 (GRCm38)	missense	probably benign	0.06
IGL02882:Npas2	APN	1	39,312,996 (GRCm38)	missense	probably benign	0.08
IGL02976:Npas2	APN	1	39,287,484 (GRCm38)	missense	probably damaging	1.00
IGL03130:Npas2	APN	1	39,313,028 (GRCm38)	missense	probably damaging	1.00
IGL03297:Npas2	APN	1	39,292,690 (GRCm38)	missense	possibly damaging	0.71
R1263:Npas2	UTSW	1	39,334,768 (GRCm38)	missense	possibly damaging	0.51
R1514:Npas2	UTSW	1	39,311,854 (GRCm38)	missense	possibly damaging	0.82
R1618:Npas2	UTSW	1	39,300,727 (GRCm38)	missense	probably damaging	1.00
R1620:Npas2	UTSW	1	39,333,912 (GRCm38)	missense	possibly damaging	0.68
R1844:Npas2	UTSW	1	39,325,375 (GRCm38)	missense	probably damaging	1.00
R1868:Npas2	UTSW	1	39,300,678 (GRCm38)	missense	probably benign	0.03
R1892:Npas2	UTSW	1	39,345,422 (GRCm38)	missense	probably benign	0.00
R2002:Npas2	UTSW	1	39,338,195 (GRCm38)	missense	probably benign	0.10
R3157:Npas2	UTSW	1	39,347,609 (GRCm38)	missense	possibly damaging	0.92
R3551:Npas2	UTSW	1	39,287,562 (GRCm38)	missense	probably benign	0.05
R4564:Npas2	UTSW	1	39,287,566 (GRCm38)	missense	probably damaging	1.00
R4907:Npas2	UTSW	1	39,361,985 (GRCm38)	missense	unknown
R5044:Npas2	UTSW	1	39,347,506 (GRCm38)	nonsense	probably null
R5621:Npas2	UTSW	1	39,359,713 (GRCm38)	missense	probably benign
R5779:Npas2	UTSW	1	39,287,571 (GRCm38)	missense	possibly damaging	0.48
R5822:Npas2	UTSW	1	39,347,566 (GRCm38)	missense	probably benign	0.00
R6033:Npas2	UTSW	1	39,338,180 (GRCm38)	missense	probably damaging	0.99
R6033:Npas2	UTSW	1	39,338,180 (GRCm38)	missense	probably damaging	0.99
R6155:Npas2	UTSW	1	39,287,476 (GRCm38)	missense	probably damaging	1.00
R6193:Npas2	UTSW	1	39,292,762 (GRCm38)	missense	probably damaging	1.00
R6220:Npas2	UTSW	1	39,336,061 (GRCm38)	missense	probably benign	0.00
R6341:Npas2	UTSW	1	39,300,687 (GRCm38)	missense	probably damaging	0.98
R6656:Npas2	UTSW	1	39,361,948 (GRCm38)	missense	unknown
R6778:Npas2	UTSW	1	39,325,300 (GRCm38)	missense	possibly damaging	0.92
R6803:Npas2	UTSW	1	39,336,049 (GRCm38)	missense	probably benign	0.35
R7165:Npas2	UTSW	1	39,292,717 (GRCm38)	missense	possibly damaging	0.79
R7250:Npas2	UTSW	1	39,338,107 (GRCm38)	missense	probably damaging	1.00
R7268:Npas2	UTSW	1	39,287,577 (GRCm38)	missense	probably damaging	0.98
R7833:Npas2	UTSW	1	39,326,147 (GRCm38)	missense	probably damaging	1.00
R7994:Npas2	UTSW	1	39,328,337 (GRCm38)	missense	possibly damaging	0.86
R8013:Npas2	UTSW	1	39,338,065 (GRCm38)	missense	probably benign
R8054:Npas2	UTSW	1	39,287,571 (GRCm38)	missense	possibly damaging	0.69
R8510:Npas2	UTSW	1	39,287,472 (GRCm38)	missense	probably damaging	1.00
R8683:Npas2	UTSW	1	39,347,627 (GRCm38)	missense	probably benign	0.00
R8738:Npas2	UTSW	1	39,292,716 (GRCm38)	missense	possibly damaging	0.65
R8779:Npas2	UTSW	1	39,338,186 (GRCm38)	missense	probably damaging	0.99
R9283:Npas2	UTSW	1	39,287,608 (GRCm38)	missense	probably damaging	1.00
R9541:Npas2	UTSW	1	39,338,113 (GRCm38)	missense	possibly damaging	0.94
R9675:Npas2	UTSW	1	39,325,365 (GRCm38)	missense	probably damaging	1.00
Z1176:Npas2	UTSW	1	39,336,010 (GRCm38)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGTTCAGCTGCTAGGAAGATGAC -3'
(R):5'- CCACAAGGATGATAAATGGCTC -3'

Sequencing Primer
(F):5'- TGTTCCATGGGAGTAACAGGTGTAC -3'
(R):5'- TCGTAGCCAAGTTGACATCG -3'

Posted On

2019-06-26