Mutagenetix > Incidental Mutation

Incidental Mutation 'R6155:Npas2'

489491

Institutional Source

Beutler Lab

Gene Symbol

Npas2

Ensembl Gene

ENSMUSG00000026077

Gene Name

neuronal PAS domain protein 2

Synonyms

bHLHe9, MOP4

MMRRC Submission

044302-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39233013-39402321 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39326557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 14 (R14Q)

Ref Sequence

ENSEMBL: ENSMUSP00000054719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056815] [ENSMUST00000173050]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000056815
AA Change: R14Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054719
Gene: ENSMUSG00000026077
AA Change: R14Q

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

probably damaging
Transcript: ENSMUST00000173050
AA Change: R14Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134241
Gene: ENSMUSG00000026077
AA Change: R14Q

Domain	Start	End	E-Value	Type
HLH	15	60	1.08e-5	SMART

Meta Mutation Damage Score

0.4442

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	C	5: 105,111,510 (GRCm39)	Y319C	probably benign	Het
Actn4	A	C	7: 28,595,566 (GRCm39)	I763S	probably damaging	Het
Actr8	G	A	14: 29,700,546 (GRCm39)		probably null	Het
Adrb1	T	C	19: 56,711,336 (GRCm39)	L178P	probably damaging	Het
Afap1	A	G	5: 36,092,953 (GRCm39)	Y19C	unknown	Het
Ankrd36	A	G	11: 5,637,442 (GRCm39)	E1337G	probably benign	Het
Arl4a	A	C	12: 40,086,519 (GRCm39)	V76G	probably damaging	Het
Bmp1	A	T	14: 70,745,447 (GRCm39)	I246K	probably damaging	Het
Camk4	A	T	18: 33,072,500 (GRCm39)	T18S	unknown	Het
Cep152	T	C	2: 125,423,620 (GRCm39)	H927R	probably benign	Het
Clca3a2	A	G	3: 144,525,118 (GRCm39)	I38T	probably damaging	Het
Clec2g	A	C	6: 128,957,236 (GRCm39)	T54P	probably damaging	Het
Cox20	A	G	1: 178,149,362 (GRCm39)	E31G	possibly damaging	Het
Crispld1	T	A	1: 17,823,241 (GRCm39)	H407Q	probably benign	Het
Csmd1	T	C	8: 15,953,231 (GRCm39)	I3417V	probably benign	Het
Dhtkd1	A	C	2: 5,915,170 (GRCm39)	H700Q	probably null	Het
Dnah10	G	A	5: 124,847,663 (GRCm39)	V1516M	probably damaging	Het
Dnah10	A	G	5: 124,862,239 (GRCm39)	T2165A	probably damaging	Het
Dock2	C	G	11: 34,244,123 (GRCm39)	M1072I	probably benign	Het
F11	T	A	8: 45,705,119 (GRCm39)	T141S	probably damaging	Het
Gabra6	T	A	11: 42,207,350 (GRCm39)	I245F	probably damaging	Het
H2-T5	G	A	17: 36,478,399 (GRCm39)	A211V	possibly damaging	Het
Herc1	T	A	9: 66,340,705 (GRCm39)	C1685S	possibly damaging	Het
Iftap	A	T	2: 101,406,355 (GRCm39)		probably null	Het
Il20	G	T	1: 130,838,477 (GRCm39)	D73E	probably damaging	Het
Ireb2	C	A	9: 54,793,811 (GRCm39)	P247Q	probably damaging	Het
Kcng3	T	C	17: 83,895,807 (GRCm39)	I220V	probably benign	Het
Lce1j	T	G	3: 92,696,379 (GRCm39)	Q133P	unknown	Het
Lgals9	C	T	11: 78,854,331 (GRCm39)	A287T	probably benign	Het
Lrrc52	A	G	1: 167,294,296 (GRCm39)		probably benign	Het
Map3k5	A	T	10: 19,994,187 (GRCm39)	H1027L	probably benign	Het
Morc3	A	G	16: 93,659,313 (GRCm39)	D407G	possibly damaging	Het
Myom1	T	C	17: 71,415,690 (GRCm39)		probably null	Het
Ncapg2	T	C	12: 116,401,631 (GRCm39)	F673S	possibly damaging	Het
Ncoa6	T	C	2: 155,249,368 (GRCm39)	D1312G	probably damaging	Het
Nkx1-1	A	T	5: 33,588,395 (GRCm39)	F298I	probably damaging	Het
Npas4	C	T	19: 5,036,898 (GRCm39)	C422Y	probably damaging	Het
Or11h4	T	C	14: 50,974,076 (GRCm39)	D181G	probably benign	Het
Or2y11	T	A	11: 49,443,411 (GRCm39)	I279N	possibly damaging	Het
Or4c123	A	G	2: 89,126,765 (GRCm39)	L283S	probably damaging	Het
Or5p4	T	C	7: 107,680,493 (GRCm39)	V164A	probably benign	Het
Pcdhga4	T	C	18: 37,819,546 (GRCm39)	I365T	probably damaging	Het
Pear1	T	A	3: 87,666,875 (GRCm39)	T37S	probably damaging	Het
Pkn2	A	T	3: 142,559,454 (GRCm39)	F24I	probably benign	Het
Plcb3	G	A	19: 6,943,533 (GRCm39)	A122V	probably damaging	Het
Pnliprp1	T	C	19: 58,718,565 (GRCm39)		probably null	Het
Pramel28	T	A	4: 143,691,712 (GRCm39)	H337L	probably benign	Het
Psmb3	T	A	11: 97,603,278 (GRCm39)	F164I	probably damaging	Het
Ptch2	T	A	4: 116,954,105 (GRCm39)	F45Y	probably damaging	Het
Ptpn23	C	A	9: 110,216,849 (GRCm39)		probably benign	Het
Pusl1	A	G	4: 155,975,005 (GRCm39)	S199P	probably damaging	Het
Rasgrp2	C	A	19: 6,452,531 (GRCm39)	L35I	probably damaging	Het
Rictor	T	C	15: 6,823,458 (GRCm39)	L1545P	probably benign	Het
Rtn4r	A	T	16: 17,969,258 (GRCm39)	M229L	probably benign	Het
Ruvbl1	A	T	6: 88,456,107 (GRCm39)		probably null	Het
Slc35b3	A	T	13: 39,128,572 (GRCm39)	S30T	probably damaging	Het
Sorcs3	T	C	19: 48,387,136 (GRCm39)	V207A	possibly damaging	Het
Sox13	A	G	1: 133,321,005 (GRCm39)	S2P	probably damaging	Het
Sptbn1	A	C	11: 30,087,403 (GRCm39)	L999R	probably damaging	Het
Taf4	A	G	2: 179,555,317 (GRCm39)	V1015A	probably damaging	Het
Top3b	T	C	16: 16,709,373 (GRCm39)	L687P	probably damaging	Het
Tpp2	T	A	1: 43,995,649 (GRCm39)	V268E	probably damaging	Het
Ttc6	T	C	12: 57,784,402 (GRCm39)	Y1824H	possibly damaging	Het
Txk	A	G	5: 72,858,069 (GRCm39)	Y360H	probably damaging	Het
Vmn2r57	T	C	7: 41,078,114 (GRCm39)	I115V	probably benign	Het
Vmn2r98	T	C	17: 19,286,143 (GRCm39)	S214P	possibly damaging	Het
Zbtb48	T	C	4: 152,106,495 (GRCm39)		probably null	Het
Zzz3	A	G	3: 152,133,319 (GRCm39)	I126V	possibly damaging	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
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'- TAGCAAAACATGTTTCTTGCCCC -3'
(R):5'- ACTCATCACCTGCAGGAAGG -3'

Sequencing Primer
(F):5'- CCATTACTCAGCTCCAAAATGTG -3'
(R):5'- CATCACCTGCAGGAAGGGTAGG -3'

Posted On

2017-10-10