Mutagenetix > Incidental Mutation

Incidental Mutation 'R1863:Npas3'

204139

Institutional Source

Beutler Lab

Gene Symbol

Npas3

Ensembl Gene

ENSMUSG00000021010

Gene Name

neuronal PAS domain protein 3

Synonyms

bHLHe12, 4930423H22Rik

MMRRC Submission

039886-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R1863 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

53294940-54118958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54115609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 826 (N826D)

Ref Sequence

ENSEMBL: ENSMUSP00000152452 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101432] [ENSMUST00000223057] [ENSMUST00000223358]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000101432
AA Change: N844D

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

SMART Domains

Protein: ENSMUSP00000098975
Gene: ENSMUSG00000021010
AA Change: N844D

Domain	Start	End	E-Value	Type
HLH	64	119	1.34e-6	SMART
PAS	154	220	8.69e-11	SMART
low complexity region	234	256	N/A	INTRINSIC
PAS	326	392	7.4e-5	SMART
PAC	398	441	2.46e-1	SMART
low complexity region	461	477	N/A	INTRINSIC
low complexity region	524	544	N/A	INTRINSIC
low complexity region	598	627	N/A	INTRINSIC
low complexity region	696	709	N/A	INTRINSIC
low complexity region	739	754	N/A	INTRINSIC
low complexity region	759	773	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185390

Predicted Effect

probably damaging
Transcript: ENSMUST00000223057
AA Change: N826D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000223358
AA Change: N813D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.0%
20x: 90.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and mental retardation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for some knock-out alleles exhibit abnormal behavior and nervous system morphology. Mice homozygous for another knock-out allele exhibit defective lung branching morphogenesis and die shortly after birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,527,746 (GRCm39)	S1015T	probably damaging	Het
Adamts10	T	A	17: 33,770,406 (GRCm39)		probably null	Het
Adgrv1	G	A	13: 81,711,685 (GRCm39)	T1097I	probably damaging	Het
Apeh	T	C	9: 107,969,302 (GRCm39)	Y274C	possibly damaging	Het
Apobec3	A	G	15: 79,782,068 (GRCm39)	D26G	possibly damaging	Het
Arg2	C	T	12: 79,196,794 (GRCm39)	Q172*	probably null	Het
Asb18	C	T	1: 89,942,104 (GRCm39)	V66I	probably benign	Het
Cacna1i	G	A	15: 80,243,132 (GRCm39)	G430S	probably damaging	Het
Cadps	A	G	14: 12,449,802 (GRCm38)	S1136P	possibly damaging	Het
Cadps	A	G	14: 12,505,796 (GRCm38)	V758A	probably benign	Het
Calhm3	A	G	19: 47,140,539 (GRCm39)	W185R	probably damaging	Het
Car5b	T	C	X: 162,774,369 (GRCm39)	D146G	probably damaging	Het
Card10	G	A	15: 78,664,714 (GRCm39)	R747W	probably damaging	Het
Cd300lg	T	G	11: 101,932,430 (GRCm39)	V5G	probably damaging	Het
Cd46	C	A	1: 194,765,931 (GRCm39)	G145C	probably damaging	Het
Chit1	T	C	1: 134,078,988 (GRCm39)	S433P	probably damaging	Het
Cntrl	G	A	2: 35,008,131 (GRCm39)	E182K	possibly damaging	Het
Col6a5	T	A	9: 105,817,400 (GRCm39)	M304L	unknown	Het
Cplane1	A	G	15: 8,258,077 (GRCm39)	I2108V	probably benign	Het
Cpxm2	C	T	7: 131,745,392 (GRCm39)		probably null	Het
Dbf4	G	A	5: 8,447,375 (GRCm39)	Q612*	probably null	Het
Dnah11	G	C	12: 118,027,587 (GRCm39)	Q1835E	possibly damaging	Het
Ehbp1l1	A	T	19: 5,767,882 (GRCm39)	N1140K	probably benign	Het
Eps8l1	C	A	7: 4,468,359 (GRCm39)		probably benign	Het
Fbxl21	A	T	13: 56,674,876 (GRCm39)	I76L	probably benign	Het
Gcnt2	A	T	13: 41,014,577 (GRCm39)	K249N	possibly damaging	Het
Gm5819	A	G	18: 8,694,179 (GRCm39)	T35A	probably benign	Het
Gm8180	T	C	14: 44,021,139 (GRCm39)	E23G	probably benign	Het
Gorab	A	G	1: 163,231,131 (GRCm39)	F8L	probably damaging	Het
Hlf	A	G	11: 90,231,652 (GRCm39)	L274S	probably damaging	Het
Il15ra	T	A	2: 11,728,247 (GRCm39)	S137T	possibly damaging	Het
Krt78	A	T	15: 101,855,004 (GRCm39)	C936S	possibly damaging	Het
Lamb2	T	C	9: 108,358,583 (GRCm39)	S207P	probably benign	Het
Lce1a1	T	C	3: 92,554,118 (GRCm39)	S119G	unknown	Het
Lipo3	A	G	19: 33,762,092 (GRCm39)	F135S	probably damaging	Het
Lrp4	T	A	2: 91,328,708 (GRCm39)	L1536Q	probably benign	Het
Lrrc25	T	C	8: 71,070,596 (GRCm39)	S126P	possibly damaging	Het
Mbd3l2	T	C	9: 18,356,217 (GRCm39)	S181P	possibly damaging	Het
Msantd5f6	A	T	4: 73,320,037 (GRCm39)	Y247*	probably null	Het
Mss51	C	T	14: 20,534,936 (GRCm39)	R278H	probably damaging	Het
Myom3	G	A	4: 135,505,348 (GRCm39)	M412I	probably benign	Het
Naa25	T	C	5: 121,573,611 (GRCm39)	V780A	probably benign	Het
Naip6	A	T	13: 100,437,067 (GRCm39)	F485L	probably benign	Het
Notch1	T	C	2: 26,359,962 (GRCm39)	Y1251C	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or2t47	T	C	11: 58,442,849 (GRCm39)	Y72C	probably benign	Het
Or4a74	A	T	2: 89,440,053 (GRCm39)	L131*	probably null	Het
Or4c35	A	T	2: 89,808,754 (GRCm39)	I211F	probably benign	Het
Or5p57	A	C	7: 107,665,932 (GRCm39)	Y24*	probably null	Het
Or6c66	T	C	10: 129,461,217 (GRCm39)	T238A	probably damaging	Het
Or8c8	T	G	9: 38,165,016 (GRCm39)	M101R	probably damaging	Het
Or8s16	G	T	15: 98,211,372 (GRCm39)	Q20K	probably benign	Het
Osbpl6	G	A	2: 76,415,402 (GRCm39)	R588H	probably damaging	Het
Pcdhb17	A	T	18: 37,619,164 (GRCm39)	D318V	probably benign	Het
Pcnx2	T	A	8: 126,545,525 (GRCm39)	E1162V	probably damaging	Het
Pde2a	G	A	7: 101,160,361 (GRCm39)	R845H	probably damaging	Het
Pkhd1	G	T	1: 20,621,244 (GRCm39)	R805S	probably benign	Het
Ppl	T	C	16: 4,905,844 (GRCm39)	K1484E	possibly damaging	Het
Pramel7	T	C	2: 87,321,675 (GRCm39)	E120G	probably benign	Het
Prg4	T	A	1: 150,336,420 (GRCm39)	D60V	probably damaging	Het
Prpf6	T	A	2: 181,249,967 (GRCm39)	D42E	possibly damaging	Het
Rbm5	C	T	9: 107,627,718 (GRCm39)	V408I	possibly damaging	Het
Rsrp1	G	T	4: 134,651,388 (GRCm39)	D51Y	unknown	Het
Sec22a	A	G	16: 35,168,088 (GRCm39)	M141T	probably damaging	Het
Spryd3	A	G	15: 102,026,094 (GRCm39)	S417P	probably benign	Het
Sptbn2	A	G	19: 4,782,713 (GRCm39)	M550V	possibly damaging	Het
Sugt1	C	T	14: 79,846,434 (GRCm39)	T157I	probably damaging	Het
Syne4	T	C	7: 30,016,308 (GRCm39)	V168A	probably benign	Het
Tas2r122	A	T	6: 132,688,065 (GRCm39)	L276*	probably null	Het
Tbc1d14	G	A	5: 36,665,037 (GRCm39)	S231F	probably damaging	Het
Tenm3	T	A	8: 48,729,381 (GRCm39)	I1526F	probably benign	Het
Tgm2	C	T	2: 157,966,139 (GRCm39)	C505Y	probably damaging	Het
Thop1	T	C	10: 80,909,151 (GRCm39)	Y61H	probably damaging	Het
Ticam1	G	A	17: 56,578,436 (GRCm39)	H220Y	probably damaging	Het
Tle6	T	C	10: 81,427,755 (GRCm39)	D500G	possibly damaging	Het
Tm6sf2	T	A	8: 70,532,375 (GRCm39)	L345Q	probably damaging	Het
Tnxb	T	C	17: 34,889,848 (GRCm39)	C114R	probably damaging	Het
Topors	G	T	4: 40,262,149 (GRCm39)	C378*	probably null	Het
Ttc6	G	A	12: 57,760,881 (GRCm39)	G1544R	probably benign	Het
Vmn2r4	A	T	3: 64,314,410 (GRCm39)	N190K	probably benign	Het
Wdr70	C	A	15: 7,950,054 (GRCm39)	V447F	probably benign	Het
Xpa	A	G	4: 46,155,730 (GRCm39)		probably benign	Het
Xrcc1	T	C	7: 24,270,000 (GRCm39)	S474P	possibly damaging	Het
Zfp658	T	G	7: 43,223,323 (GRCm39)	F533V	possibly damaging	Het
Zfp799	G	A	17: 33,038,374 (GRCm39)	H631Y	probably damaging	Het

Other mutations in Npas3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Npas3	APN	12	54,050,343 (GRCm39)	missense	probably damaging	1.00
IGL01330:Npas3	APN	12	54,095,602 (GRCm39)	missense	probably damaging	1.00
IGL01376:Npas3	APN	12	54,091,369 (GRCm39)	missense	probably benign	0.01
IGL01634:Npas3	APN	12	53,993,946 (GRCm39)	missense	probably damaging	1.00
IGL02456:Npas3	APN	12	54,095,550 (GRCm39)	missense	probably damaging	0.99
IGL02663:Npas3	APN	12	54,115,691 (GRCm39)	missense	probably damaging	1.00
IGL02731:Npas3	APN	12	54,114,578 (GRCm39)	missense	probably benign	0.01
IGL02955:Npas3	APN	12	53,548,048 (GRCm39)	missense	probably damaging	0.96
IGL03001:Npas3	APN	12	53,547,975 (GRCm39)	missense	probably damaging	1.00
IGL03047:Npas3	APN	12	53,878,470 (GRCm39)	splice site	probably benign
ANU05:Npas3	UTSW	12	54,114,857 (GRCm39)	missense	possibly damaging	0.49
IGL02837:Npas3	UTSW	12	53,993,980 (GRCm39)	missense	possibly damaging	0.79
R0042:Npas3	UTSW	12	54,095,624 (GRCm39)	missense	probably damaging	1.00
R0042:Npas3	UTSW	12	54,095,624 (GRCm39)	missense	probably damaging	1.00
R0396:Npas3	UTSW	12	53,878,528 (GRCm39)	missense	probably damaging	1.00
R1687:Npas3	UTSW	12	54,095,658 (GRCm39)	splice site	probably null
R2004:Npas3	UTSW	12	54,114,680 (GRCm39)	missense	possibly damaging	0.63
R2047:Npas3	UTSW	12	54,115,612 (GRCm39)	missense	probably damaging	0.99
R2049:Npas3	UTSW	12	54,108,871 (GRCm39)	missense	probably damaging	1.00
R2278:Npas3	UTSW	12	53,687,285 (GRCm39)	missense	possibly damaging	0.92
R2323:Npas3	UTSW	12	54,115,129 (GRCm39)	missense	probably damaging	1.00
R2871:Npas3	UTSW	12	54,114,796 (GRCm39)	nonsense	probably null
R2871:Npas3	UTSW	12	54,114,796 (GRCm39)	nonsense	probably null
R3116:Npas3	UTSW	12	54,114,508 (GRCm39)	splice site	probably null
R3431:Npas3	UTSW	12	54,115,832 (GRCm39)	missense	probably damaging	0.99
R3731:Npas3	UTSW	12	53,401,175 (GRCm39)	missense	probably benign	0.11
R3767:Npas3	UTSW	12	54,115,857 (GRCm39)	makesense	probably null
R4332:Npas3	UTSW	12	54,108,852 (GRCm39)	missense	probably damaging	0.99
R4593:Npas3	UTSW	12	54,115,280 (GRCm39)	missense	probably benign	0.08
R4601:Npas3	UTSW	12	54,091,361 (GRCm39)	missense	probably damaging	0.99
R4654:Npas3	UTSW	12	54,108,915 (GRCm39)	critical splice donor site	probably null
R4946:Npas3	UTSW	12	54,112,618 (GRCm39)	missense	probably damaging	1.00
R5140:Npas3	UTSW	12	53,547,897 (GRCm39)	nonsense	probably null
R5302:Npas3	UTSW	12	54,115,619 (GRCm39)	missense	probably damaging	1.00
R5524:Npas3	UTSW	12	54,115,721 (GRCm39)	missense	possibly damaging	0.64
R5735:Npas3	UTSW	12	54,050,262 (GRCm39)	missense	probably benign	0.00
R6252:Npas3	UTSW	12	54,115,673 (GRCm39)	missense	probably damaging	1.00
R6438:Npas3	UTSW	12	54,115,481 (GRCm39)	missense	probably damaging	0.99
R6987:Npas3	UTSW	12	54,115,036 (GRCm39)	missense	possibly damaging	0.94
R6994:Npas3	UTSW	12	54,115,576 (GRCm39)	missense	probably damaging	0.96
R7304:Npas3	UTSW	12	54,115,824 (GRCm39)	missense	probably damaging	1.00
R7684:Npas3	UTSW	12	54,115,609 (GRCm39)	missense	probably damaging	1.00
R7724:Npas3	UTSW	12	54,115,124 (GRCm39)	missense	possibly damaging	0.90
R7739:Npas3	UTSW	12	54,115,501 (GRCm39)	missense	probably damaging	1.00
R7826:Npas3	UTSW	12	53,878,539 (GRCm39)	missense	possibly damaging	0.92
R8017:Npas3	UTSW	12	54,091,462 (GRCm39)	missense	probably damaging	1.00
R8019:Npas3	UTSW	12	54,091,462 (GRCm39)	missense	probably damaging	1.00
R8034:Npas3	UTSW	12	53,687,312 (GRCm39)	missense	probably damaging	1.00
R8422:Npas3	UTSW	12	54,115,292 (GRCm39)	missense	probably benign
R9172:Npas3	UTSW	12	54,112,653 (GRCm39)	missense	probably benign	0.08
R9207:Npas3	UTSW	12	54,114,818 (GRCm39)	missense	possibly damaging	0.87
R9774:Npas3	UTSW	12	53,994,108 (GRCm39)	missense	probably damaging	1.00
X0003:Npas3	UTSW	12	54,091,511 (GRCm39)	splice site	probably null
X0064:Npas3	UTSW	12	53,401,167 (GRCm39)	missense	probably damaging	0.96
Z1176:Npas3	UTSW	12	53,547,963 (GRCm39)	missense	probably damaging	0.99
Z1177:Npas3	UTSW	12	53,993,989 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCCTTGCTGTACACTGGG -3'
(R):5'- ATACCGTTGCTGTAGACTGGG -3'

Sequencing Primer
(F):5'- AGGCCCTGCAGAGGTTG -3'
(R):5'- AGCGTGGAGAAGAGTCCCTC -3'

Posted On

2014-06-23