Mutagenetix > Incidental Mutation

Incidental Mutation 'R1618:Npas2'

174400

Institutional Source

Beutler Lab

Gene Symbol

Npas2

Ensembl Gene

ENSMUSG00000026077

Gene Name

neuronal PAS domain protein 2

Synonyms

bHLHe9, MOP4

MMRRC Submission

039655-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1618 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39233013-39402321 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39339808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 119 (H119Q)

Ref Sequence

ENSEMBL: ENSMUSP00000054719 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000056815
AA Change: H119Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054719
Gene: ENSMUSG00000026077
AA Change: H119Q

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

Meta Mutation Damage Score

0.9115

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.1%

Validation Efficiency

96% (79/82)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449E01Rik	T	C	14: 105,736,380 (GRCm39)		noncoding transcript	Het
Abca8b	A	T	11: 109,840,714 (GRCm39)		probably benign	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Anln	A	G	9: 22,262,214 (GRCm39)		probably null	Het
Anpep	T	G	7: 79,485,165 (GRCm39)	Q607P	probably benign	Het
Arl13b	A	C	16: 62,633,640 (GRCm39)		probably null	Het
Asxl3	T	C	18: 22,650,044 (GRCm39)	S678P	probably damaging	Het
Atf6b	C	T	17: 34,866,702 (GRCm39)	Q58*	probably null	Het
Camsap3	A	G	8: 3,648,740 (GRCm39)	T20A	probably benign	Het
Cfap46	T	A	7: 139,232,726 (GRCm39)	M782L	probably benign	Het
Cngb3	T	C	4: 19,364,260 (GRCm39)	S155P	probably benign	Het
Coro1a	T	C	7: 126,300,719 (GRCm39)	I162V	probably benign	Het
Cry1	T	A	10: 84,982,318 (GRCm39)	I343F	probably damaging	Het
Csnk1e	A	T	15: 79,309,050 (GRCm39)	M292K	probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Cul9	A	T	17: 46,836,818 (GRCm39)	M1069K	probably benign	Het
Cyp2c67	C	A	19: 39,631,708 (GRCm39)		probably benign	Het
Dnah11	T	C	12: 117,979,200 (GRCm39)	I2633V	probably damaging	Het
Eif4g3	C	A	4: 137,933,369 (GRCm39)	D1731E	probably damaging	Het
Epb41l4b	T	C	4: 57,032,204 (GRCm39)	T592A	probably benign	Het
Evi5	T	C	5: 107,946,984 (GRCm39)		probably benign	Het
Exo1	T	A	1: 175,728,952 (GRCm39)	M672K	probably benign	Het
Fcho1	T	C	8: 72,163,047 (GRCm39)	S661G	probably damaging	Het
Fnip2	A	G	3: 79,415,475 (GRCm39)	Y188H	possibly damaging	Het
Foxb1	T	C	9: 69,667,293 (GRCm39)	D79G	probably damaging	Het
Fyco1	T	C	9: 123,658,346 (GRCm39)	Y610C	probably damaging	Het
Gm3095	T	A	14: 15,170,441 (GRCm39)	Y97N	probably damaging	Het
Gm3095	C	A	14: 15,170,440 (GRCm39)	N96K	probably damaging	Het
Gmfb	A	T	14: 47,049,237 (GRCm39)	L128*	probably null	Het
Gprc5c	T	A	11: 114,755,220 (GRCm39)	V299D	possibly damaging	Het
Hsfy2	C	T	1: 56,676,388 (GRCm39)	V50I	probably benign	Het
Hspa12b	A	C	2: 130,982,849 (GRCm39)	K236Q	probably benign	Het
Impg2	A	G	16: 56,080,221 (GRCm39)	Y566C	probably damaging	Het
Itpr3	A	C	17: 27,335,581 (GRCm39)		probably null	Het
Kprp	G	A	3: 92,732,783 (GRCm39)	T89I	probably damaging	Het
Lcmt2	T	C	2: 120,969,133 (GRCm39)	E650G	probably damaging	Het
Lrch1	T	C	14: 75,051,144 (GRCm39)	D331G	probably damaging	Het
Mroh9	T	A	1: 162,852,110 (GRCm39)	I860F	probably benign	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myt1l	A	G	12: 29,877,396 (GRCm39)	D349G	unknown	Het
Ndufs2	T	C	1: 171,073,690 (GRCm39)	T31A	probably benign	Het
Ndufs3	A	T	2: 90,729,016 (GRCm39)	S157T	probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Noct	T	A	3: 51,155,251 (GRCm39)	S6R	probably damaging	Het
Oprl1	A	T	2: 181,360,646 (GRCm39)	Y207F	probably benign	Het
Or2n1e	G	A	17: 38,586,557 (GRCm39)		probably null	Het
Or4c11	A	G	2: 88,695,871 (GRCm39)		probably null	Het
Or8k30	T	G	2: 86,339,193 (GRCm39)	L130R	probably damaging	Het
Palm3	G	T	8: 84,756,291 (GRCm39)	S601I	possibly damaging	Het
Plscr1	T	A	9: 92,148,548 (GRCm39)	C163S	probably damaging	Het
Ptprk	A	T	10: 28,369,166 (GRCm39)	M713L	probably benign	Het
Rdm1	A	G	11: 101,519,217 (GRCm39)	D72G	possibly damaging	Het
Reln	T	C	5: 22,265,366 (GRCm39)	D442G	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Sbno1	T	C	5: 124,542,279 (GRCm39)	Y338C	probably damaging	Het
Seh1l	T	G	18: 67,921,806 (GRCm39)	V222G	probably damaging	Het
Septin12	T	C	16: 4,814,340 (GRCm39)	K43R	probably damaging	Het
Slc25a18	A	C	6: 120,763,303 (GRCm39)		probably benign	Het
Slc33a1	T	C	3: 63,855,650 (GRCm39)	T332A	possibly damaging	Het
Slc35d3	A	G	10: 19,724,909 (GRCm39)	S316P	probably benign	Het
Spmip7	A	G	11: 11,438,641 (GRCm39)		probably benign	Het
Srrm2	T	A	17: 24,037,906 (GRCm39)		probably benign	Het
Srsf12	C	T	4: 33,230,974 (GRCm39)	S156L	probably damaging	Het
Syce3	A	G	15: 89,274,606 (GRCm39)	M49T	probably benign	Het
Tjp3	T	C	10: 81,112,094 (GRCm39)		probably benign	Het
Tnks	G	T	8: 35,342,430 (GRCm39)	N373K	probably damaging	Het
Togaram1	A	G	12: 65,013,847 (GRCm39)	N366S	possibly damaging	Het
Trpm1	G	A	7: 63,890,283 (GRCm39)	R962H	probably damaging	Het
Trpm6	A	T	19: 18,854,995 (GRCm39)	M1885L	possibly damaging	Het
Tshz3	A	G	7: 36,471,221 (GRCm39)	D1070G	probably damaging	Het
Ush2a	T	C	1: 188,546,421 (GRCm39)	M3399T	probably benign	Het
Utp15	G	A	13: 98,393,695 (GRCm39)	T196I	probably benign	Het
Vmn1r168	T	C	7: 23,240,725 (GRCm39)	I194T	probably benign	Het
Vmn2r73	C	T	7: 85,525,120 (GRCm39)	W9*	probably null	Het
Wdr17	T	C	8: 55,092,930 (GRCm39)	Y1076C	probably damaging	Het
Zan	T	C	5: 137,382,092 (GRCm39)	T5152A	unknown	Het
Zbtb46	A	T	2: 181,066,042 (GRCm39)	V36E	possibly damaging	Het
Zfp558	T	C	9: 18,380,579 (GRCm39)	I9M	possibly damaging	Het
Zscan2	T	A	7: 80,525,534 (GRCm39)	Y418*	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
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
R2002:Npas2	UTSW	1	39,377,276 (GRCm39)	missense	probably benign	0.10
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'- CCAACAGGTCAGCTTTACCACTGAG -3'
(R):5'- CCATTGAGATCACAGCTCCATGCC -3'

Sequencing Primer
(F):5'- TCTTGCCTGAGCTGAACAG -3'
(R):5'- TTCATCTGCCGCAGGAC -3'

Posted On

2014-04-24