Mutagenetix > Incidental Mutation

Incidental Mutation 'R1564:Neurod2'

175137

Institutional Source

Beutler Lab

Gene Symbol

Neurod2

Ensembl Gene

ENSMUSG00000038255

Gene Name

neurogenic differentiation 2

Synonyms

Ndrf, bHLHa1

MMRRC Submission

039603-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.804) question?

Stock #

R1564 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98216241-98220471 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98218250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 305 (C305S)

Ref Sequence

ENSEMBL: ENSMUSP00000041373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041685]

AlphaFold

Q62414

Predicted Effect

probably damaging
Transcript: ENSMUST00000041685
AA Change: C305S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000041373
Gene: ENSMUSG00000038255
AA Change: C305S

Domain	Start	End	E-Value	Type
low complexity region	34	57	N/A	INTRINSIC
low complexity region	76	111	N/A	INTRINSIC
HLH	128	180	4.19e-17	SMART
Pfam:Neuro_bHLH	181	311	5.7e-43	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 91.0%

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 neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known as an E-box. The product of the human gene can induce neurogenic differentiation in non-neuronal cells in Xenopus embryos, and is thought to play a role in the determination and maintenance of neuronal cell fates. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation show elevated neuronal apoptosis resulting in ataxia, incoordination, elevated seizure susceptibility, and death by 35 days. Heterozygotes are moderately affected, and adults are subject to unexplained death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,384,316 (GRCm39)	Q3923*	probably null	Het
Abcc12	T	A	8: 87,244,115 (GRCm39)	T1013S	probably benign	Het
Acad9	T	C	3: 36,143,578 (GRCm39)	I558T	possibly damaging	Het
Agbl4	C	A	4: 110,812,761 (GRCm39)		probably null	Het
Akr1b1	C	T	6: 34,283,470 (GRCm39)		probably null	Het
Aktip	A	G	8: 91,857,709 (GRCm39)	M1T	probably null	Het
Apc	G	T	18: 34,448,202 (GRCm39)	Q1665H	probably benign	Het
Arfgef3	T	C	10: 18,467,452 (GRCm39)	D1916G	probably damaging	Het
Arhgef11	T	C	3: 87,609,817 (GRCm39)	V365A	probably benign	Het
Bank1	C	A	3: 135,919,602 (GRCm39)	E265*	probably null	Het
Bbs7	A	T	3: 36,629,944 (GRCm39)	D578E	probably damaging	Het
Bin3	T	C	14: 70,372,218 (GRCm39)	F172L	probably damaging	Het
Bves	A	G	10: 45,245,377 (GRCm39)	D350G	probably benign	Het
Cacna1h	A	T	17: 25,596,835 (GRCm39)	C80*	probably null	Het
Cacna2d4	T	C	6: 119,218,156 (GRCm39)	F164L	possibly damaging	Het
Cenpj	T	C	14: 56,789,523 (GRCm39)	D842G	probably benign	Het
Col12a1	C	A	9: 79,521,122 (GRCm39)	R2781L	probably damaging	Het
Cyp2c68	A	T	19: 39,724,024 (GRCm39)	C213*	probably null	Het
Defb33	T	A	8: 21,387,597 (GRCm39)	C45S	possibly damaging	Het
Dolk	A	T	2: 30,175,633 (GRCm39)	N137K	probably damaging	Het
Fam171b	G	A	2: 83,710,628 (GRCm39)	E767K	probably damaging	Het
Fbxl20	A	T	11: 97,989,312 (GRCm39)	D189E	probably damaging	Het
Gm10643	A	T	8: 84,791,111 (GRCm39)	M1K	probably null	Het
Gm572	T	G	4: 148,735,643 (GRCm39)	I24S	possibly damaging	Het
Gnpda1	A	G	18: 38,471,142 (GRCm39)		probably null	Het
Gpr141b	T	C	13: 19,913,470 (GRCm39)		noncoding transcript	Het
Helz2	G	T	2: 180,875,021 (GRCm39)	N1824K	probably benign	Het
Insl3	G	T	8: 72,142,935 (GRCm39)	A99S	possibly damaging	Het
Lpin2	G	A	17: 71,532,055 (GRCm39)	V137I	probably benign	Het
Lrrc9	A	G	12: 72,533,827 (GRCm39)	E1032G	probably damaging	Het
Macf1	T	C	4: 123,353,150 (GRCm39)	T1510A	probably benign	Het
Mnd1	T	C	3: 84,023,738 (GRCm39)	E116G	probably benign	Het
Mycbp2	A	G	14: 103,407,287 (GRCm39)		probably null	Het
Myoz3	G	A	18: 60,713,914 (GRCm39)	S23L	probably benign	Het
Napsa	G	T	7: 44,236,073 (GRCm39)	V371F	probably damaging	Het
Nefh	T	C	11: 4,889,878 (GRCm39)	T914A	unknown	Het
Nmnat3	T	C	9: 98,236,219 (GRCm39)		probably null	Het
Nuf2	A	G	1: 169,326,362 (GRCm39)	V463A	unknown	Het
Olfml1	A	T	7: 107,170,346 (GRCm39)	T78S	possibly damaging	Het
Opcml	G	A	9: 28,814,612 (GRCm39)	C288Y	probably damaging	Het
Oprl1	T	C	2: 181,360,733 (GRCm39)	I222T	possibly damaging	Het
Or13a28	G	A	7: 140,217,967 (GRCm39)	V118I	probably benign	Het
Or4c104	A	T	2: 88,587,000 (GRCm39)	N6K	possibly damaging	Het
Or4c122	G	T	2: 89,080,016 (GRCm39)	N7K	probably benign	Het
Or6c210	T	C	10: 129,495,884 (GRCm39)	F70L	probably benign	Het
Pcsk5	A	G	19: 17,632,120 (GRCm39)	Y349H	probably damaging	Het
Pla2g4d	C	A	2: 120,099,384 (GRCm39)	R706L	possibly damaging	Het
Pmm1	A	G	15: 81,840,401 (GRCm39)	Y55H	probably damaging	Het
Polb	A	G	8: 23,120,357 (GRCm39)		probably null	Het
Pom121l2	T	C	13: 22,167,523 (GRCm39)	I598T	possibly damaging	Het
Pxmp2	C	T	5: 110,429,062 (GRCm39)		probably null	Het
Rbm39	G	T	2: 155,996,177 (GRCm39)	L403I	probably benign	Het
Rec8	T	C	14: 55,859,732 (GRCm39)		probably null	Het
Reck	T	C	4: 43,912,061 (GRCm39)	I190T	probably benign	Het
Rer1	A	T	4: 155,160,050 (GRCm39)	I166N	probably damaging	Het
Rgs17	T	A	10: 5,792,567 (GRCm39)	K60*	probably null	Het
Ripor2	C	T	13: 24,859,768 (GRCm39)	T152M	probably damaging	Het
Scgb1b2	A	T	7: 30,991,200 (GRCm39)		probably benign	Het
Scn3a	C	A	2: 65,344,979 (GRCm39)	R503M	probably damaging	Het
Scn4a	C	A	11: 106,236,367 (GRCm39)	D298Y	probably benign	Het
Scn9a	A	G	2: 66,314,648 (GRCm39)	F1679S	probably damaging	Het
Scyl3	G	T	1: 163,767,553 (GRCm39)		probably null	Het
Sec23ip	A	G	7: 128,368,005 (GRCm39)		probably null	Het
She	C	T	3: 89,756,921 (GRCm39)	A325V	possibly damaging	Het
Skint2	T	G	4: 112,483,195 (GRCm39)	M200R	probably damaging	Het
Slc17a5	A	T	9: 78,485,981 (GRCm39)	C35S	probably damaging	Het
Slc25a24	T	A	3: 109,070,819 (GRCm39)	S393T	probably damaging	Het
Slc6a19	C	T	13: 73,834,243 (GRCm39)	V320M	probably damaging	Het
Snap91	T	C	9: 86,674,249 (GRCm39)	D579G	possibly damaging	Het
Spats2l	C	T	1: 57,985,383 (GRCm39)	R479C	probably damaging	Het
Syngr3	G	C	17: 24,905,642 (GRCm39)		probably null	Het
Tas2r107	A	C	6: 131,636,785 (GRCm39)	I88R	probably damaging	Het
Them7	A	T	2: 105,128,259 (GRCm39)	N80I	probably damaging	Het
Tmprss7	C	T	16: 45,482,516 (GRCm39)		probably null	Het
Tnrc6b	A	G	15: 80,764,369 (GRCm39)	N624D	possibly damaging	Het
Trpm2	T	G	10: 77,778,833 (GRCm39)	I378L	probably benign	Het
Ttn	C	A	2: 76,554,876 (GRCm39)	W30676L	probably damaging	Het
Ttn	A	G	2: 76,774,384 (GRCm39)	V2220A	unknown	Het
Uba6	T	C	5: 86,302,266 (GRCm39)	T134A	probably benign	Het
Vmn2r55	A	G	7: 12,418,678 (GRCm39)	S81P	probably damaging	Het
Zfp616	T	A	11: 73,975,548 (GRCm39)	S606T	probably damaging	Het
Zfp653	C	A	9: 21,967,155 (GRCm39)	A577S	probably damaging	Het

Other mutations in Neurod2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Neurod2	APN	11	98,218,595 (GRCm39)	missense	probably damaging	1.00
IGL01751:Neurod2	APN	11	98,218,201 (GRCm39)	missense	possibly damaging	0.94
IGL01752:Neurod2	APN	11	98,218,201 (GRCm39)	missense	possibly damaging	0.94
IGL02661:Neurod2	APN	11	98,218,405 (GRCm39)	missense	possibly damaging	0.65
hesitate	UTSW	11	98,218,582 (GRCm39)	missense	probably damaging	1.00
R5181_Neurod2_559	UTSW	11	98,218,204 (GRCm39)	missense	probably benign	0.43
selection	UTSW	11	98,218,147 (GRCm39)	missense	probably benign	0.01
PIT4362001:Neurod2	UTSW	11	98,218,708 (GRCm39)	missense	probably damaging	1.00
R0904:Neurod2	UTSW	11	98,218,147 (GRCm39)	missense	probably benign	0.01
R0989:Neurod2	UTSW	11	98,218,805 (GRCm39)	missense	probably damaging	1.00
R1290:Neurod2	UTSW	11	98,218,114 (GRCm39)	missense	possibly damaging	0.69
R1712:Neurod2	UTSW	11	98,218,029 (GRCm39)	missense	probably damaging	1.00
R1901:Neurod2	UTSW	11	98,218,558 (GRCm39)	missense	probably damaging	1.00
R2129:Neurod2	UTSW	11	98,218,414 (GRCm39)	missense	possibly damaging	0.73
R2267:Neurod2	UTSW	11	98,218,582 (GRCm39)	missense	probably damaging	1.00
R3754:Neurod2	UTSW	11	98,218,526 (GRCm39)	missense	probably damaging	1.00
R4421:Neurod2	UTSW	11	98,219,026 (GRCm39)	nonsense	probably null
R5067:Neurod2	UTSW	11	98,218,063 (GRCm39)	missense	possibly damaging	0.71
R5181:Neurod2	UTSW	11	98,218,204 (GRCm39)	missense	probably benign	0.43
R7922:Neurod2	UTSW	11	98,218,454 (GRCm39)	missense	probably benign	0.00
R7976:Neurod2	UTSW	11	98,218,023 (GRCm39)	missense	probably damaging	0.97
R8692:Neurod2	UTSW	11	98,218,960 (GRCm39)	missense	probably benign	0.02
R8842:Neurod2	UTSW	11	98,218,507 (GRCm39)	missense	probably damaging	1.00
R9716:Neurod2	UTSW	11	98,218,444 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAAGAGATTCTCGGAGTGGACGC -3'
(R):5'- TCTCGTAACTTCCTCACGGAGCAG -3'

Sequencing Primer
(F):5'- GAGTAGTGGTAGCTCTTCTCGT -3'
(R):5'- ATCCGTACCCATACCCGTG -3'

Posted On

2014-04-24