Mutagenetix > Incidental Mutation

Incidental Mutation 'R6220:Npas2'

503925

Institutional Source

Beutler Lab

Gene Symbol

Npas2

Ensembl Gene

ENSMUSG00000026077

Gene Name

neuronal PAS domain protein 2

Synonyms

bHLHe9, MOP4

MMRRC Submission

044352-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39233013-39402321 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39375142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 487 (T487S)

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: T487S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000054719
Gene: ENSMUSG00000026077
AA Change: T487S

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

100% (65/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	A	G	2: 181,135,578 (GRCm39)	D160G	probably damaging	Het
Acap1	A	G	11: 69,780,505 (GRCm39)	F15S	probably damaging	Het
Adam30	A	T	3: 98,068,625 (GRCm39)	S153C	probably damaging	Het
Afp	A	T	5: 90,652,269 (GRCm39)	D420V	possibly damaging	Het
Ak9	T	A	10: 41,246,095 (GRCm39)	H729Q	unknown	Het
Armh3	T	C	19: 45,834,554 (GRCm39)	E618G	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bcr	A	G	10: 74,898,124 (GRCm39)	T423A	probably benign	Het
Cc2d1b	C	T	4: 108,490,422 (GRCm39)	R825W	probably damaging	Het
Ctns	T	C	11: 73,083,954 (GRCm39)	T23A	probably benign	Het
Ddx54	T	A	5: 120,758,754 (GRCm39)	N332K	probably benign	Het
Dysf	T	A	6: 84,126,727 (GRCm39)	I1344N	probably damaging	Het
Elovl3	A	T	19: 46,122,939 (GRCm39)	M172L	probably benign	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Filip1l	T	A	16: 57,390,352 (GRCm39)	N313K	probably benign	Het
Foxp2	C	A	6: 15,437,947 (GRCm39)	T716K	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm10645	A	G	8: 83,892,386 (GRCm39)		probably benign	Het
Gm10735	T	C	13: 113,178,030 (GRCm39)		probably benign	Het
Gm4847	A	T	1: 166,462,541 (GRCm39)	D316E	probably damaging	Het
Gorasp2	T	C	2: 70,521,134 (GRCm39)	L388P	probably damaging	Het
Heatr5b	A	G	17: 79,081,106 (GRCm39)	L1382P	probably damaging	Het
Herc1	A	G	9: 66,341,070 (GRCm39)	Y1729C	probably damaging	Het
Ifi207	A	T	1: 173,557,112 (GRCm39)	L542H	probably damaging	Het
Ighv3-5	T	A	12: 114,226,338 (GRCm39)	N96I	probably damaging	Het
Isl1	T	C	13: 116,439,803 (GRCm39)	T182A	probably benign	Het
Jph4	T	C	14: 55,347,542 (GRCm39)	E421G	probably benign	Het
Lrrc45	T	C	11: 120,610,353 (GRCm39)	I488T	probably benign	Het
Mroh8	A	G	2: 157,075,083 (GRCm39)	I471T	probably benign	Het
Ms4a2	A	T	19: 11,594,927 (GRCm39)	D96E	probably damaging	Het
Mst1r	T	A	9: 107,784,547 (GRCm39)	N68K	probably benign	Het
Myo18b	A	G	5: 112,905,373 (GRCm39)	M2075T	possibly damaging	Het
Neb	T	C	2: 52,160,984 (GRCm39)	K2229R	probably null	Het
Nkx6-3	T	A	8: 23,643,987 (GRCm39)		probably null	Het
Nlrp1a	C	A	11: 71,033,164 (GRCm39)	S10I	probably benign	Het
Nrxn1	G	C	17: 91,395,904 (GRCm39)	T84R	probably benign	Het
Or4k2	C	A	14: 50,424,135 (GRCm39)	D180Y	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh18	A	G	3: 49,699,700 (GRCm39)	C921R	probably damaging	Het
Pcdha9	A	G	18: 37,131,531 (GRCm39)	Y200C	probably damaging	Het
Pknox1	A	T	17: 31,822,177 (GRCm39)	R315*	probably null	Het
Rasgrp1	C	T	2: 117,115,410 (GRCm39)	W726*	probably null	Het
Rassf8	G	A	6: 145,762,859 (GRCm39)	R402H	probably damaging	Het
Rev3l	T	A	10: 39,698,775 (GRCm39)	Y1091N	probably damaging	Het
Riok3	T	G	18: 12,282,608 (GRCm39)	V349G	probably damaging	Het
Rps18	A	T	17: 34,174,110 (GRCm39)	V15E	probably damaging	Het
Rptor	A	T	11: 119,788,268 (GRCm39)	Y1323F	possibly damaging	Het
Rspry1	T	C	8: 95,385,378 (GRCm39)	C437R	probably damaging	Het
Sema5a	T	A	15: 32,686,875 (GRCm39)	Y996N	probably damaging	Het
Smarcad1	A	G	6: 65,091,313 (GRCm39)	I1011M	probably benign	Het
Supv3l1	A	T	10: 62,274,800 (GRCm39)	M295K	possibly damaging	Het
Sv2c	T	C	13: 96,113,134 (GRCm39)	D605G	probably damaging	Het
Teddm1b	G	A	1: 153,750,947 (GRCm39)	W252*	probably null	Het
Tes	T	A	6: 17,086,195 (GRCm39)	C29*	probably null	Het
Thsd4	A	G	9: 59,890,030 (GRCm39)	W856R	probably damaging	Het
Treml4	A	T	17: 48,571,876 (GRCm39)	D93V	possibly damaging	Het
Trim66	T	C	7: 109,082,300 (GRCm39)	T218A	probably damaging	Het
Tssk5	T	C	15: 76,257,973 (GRCm39)	D128G	probably damaging	Het
Ubr3	T	A	2: 69,850,819 (GRCm39)	W1746R	probably damaging	Het
Vmn2r11	T	C	5: 109,201,434 (GRCm39)	I357V	probably benign	Het
Vmn2r87	A	T	10: 130,315,807 (GRCm39)	D86E	probably benign	Het
Zfp184	T	G	13: 22,144,377 (GRCm39)	H694Q	probably damaging	Het
Zranb3	A	C	1: 127,927,141 (GRCm39)	F341L	probably benign	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
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
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'- TAGGACTTGCAGCTGGAACAC -3'
(R):5'- GATGACTGTCAGACATGGGG -3'

Sequencing Primer
(F):5'- CTTGCAGCTGGAACACGGAAC -3'
(R):5'- GGACAGGTGTGATACATTGTTACAC -3'

Posted On

2018-02-27