Mutagenetix > Incidental Mutation

Incidental Mutation 'R8777-TAIL:Neurog2'

668096

Institutional Source

Beutler Lab

Gene Symbol

Neurog2

Ensembl Gene

ENSMUSG00000027967

Gene Name

neurogenin 2

Synonyms

Atoh4, bHLHa8, ngn2, Math4A

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8777-TAIL

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127426784-127429280 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 127427742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 122 (R122L)

Ref Sequence

ENSEMBL: ENSMUSP00000029587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029587]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029587
AA Change: R122L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029587
Gene: ENSMUSG00000027967
AA Change: R122L

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
low complexity region	38	44	N/A	INTRINSIC
low complexity region	49	65	N/A	INTRINSIC
HLH	118	170	1.38e-17	SMART
low complexity region	190	231	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a neural-specific basic helix-loop-helix (bHLH) transcription factor that can specify a neuronal fate on ectodermal cells and is expressed in neural progenitor cells within the developing central and peripheral nervous systems. The protein product of this gene also plays a role in the differentiation and survival of midbrain dopaminergic neurons. [provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygous null mice die after birth and have neuronal differentiation defects, affecting retinal development, spinal cord interneuron development and behavior. [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
Abcb4	A	T	5: 8,989,894 (GRCm39)	T816S	probably benign	Het
Aff4	G	A	11: 53,290,783 (GRCm39)	S581N	probably damaging	Het
Aimp2	G	A	5: 143,839,825 (GRCm39)	A253V	probably damaging	Het
Arl6ip4	T	G	5: 124,254,611 (GRCm39)	S35A	probably benign	Het
Atp1a4	A	T	1: 172,059,869 (GRCm39)	Y787N	probably damaging	Het
Btbd8	T	G	5: 107,658,293 (GRCm39)	I1621R	probably damaging	Het
Ccdc169	T	C	3: 55,058,334 (GRCm39)	S13P	probably damaging	Het
Ccdc186	G	A	19: 56,801,793 (GRCm39)	S108F	probably damaging	Het
Ccdc39	G	A	3: 33,893,282 (GRCm39)	T101I	probably benign	Het
Cdh13	G	T	8: 119,963,706 (GRCm39)		probably null	Het
Clec1b	A	T	6: 129,380,537 (GRCm39)	E151V	probably benign	Het
Cplx1	T	A	5: 108,673,435 (GRCm39)		probably null	Het
Diablo	T	A	5: 123,655,990 (GRCm39)	I150F	unknown	Het
Esp31	T	C	17: 38,955,582 (GRCm39)	V75A	probably benign	Het
Gm49336	G	A	14: 60,466,185 (GRCm39)	L458F	probably damaging	Het
Grin3b	A	T	10: 79,808,972 (GRCm39)	S241C	possibly damaging	Het
Gxylt2	A	G	6: 100,727,432 (GRCm39)	N182S	probably damaging	Het
Hephl1	T	G	9: 14,972,090 (GRCm39)	D950A	probably benign	Het
Hkdc1	A	G	10: 62,234,612 (GRCm39)	I556T	possibly damaging	Het
Ints4	C	A	7: 97,134,227 (GRCm39)	A53D	probably damaging	Het
Kmt5c	T	C	7: 4,745,712 (GRCm39)	V124A	possibly damaging	Het
Lrpprc	T	A	17: 85,058,657 (GRCm39)	Q734H	probably benign	Het
Map1b	T	C	13: 99,567,304 (GRCm39)	T1806A	unknown	Het
Mcmbp	A	T	7: 128,308,855 (GRCm39)	F389I	probably damaging	Het
Mcrs1	C	T	15: 99,141,237 (GRCm39)	G422S	probably damaging	Het
Mgam	A	G	6: 40,632,185 (GRCm39)	H173R	probably damaging	Het
Mib1	G	A	18: 10,747,422 (GRCm39)	G200S	probably benign	Het
Myh13	A	T	11: 67,252,161 (GRCm39)	Q1423L	possibly damaging	Het
Myh2	A	G	11: 67,083,398 (GRCm39)	R1454G	possibly damaging	Het
Mylk4	C	T	13: 32,913,089 (GRCm39)	V70I	probably benign	Het
Myof	A	G	19: 37,968,841 (GRCm39)	V358A	probably benign	Het
Ncor1	T	A	11: 62,324,494 (GRCm39)	H47L	probably damaging	Het
Ncor1	T	A	11: 62,324,492 (GRCm39)	I48F	probably benign	Het
Npdc1	T	A	2: 25,298,129 (GRCm39)	L193Q	probably damaging	Het
Nrxn3	A	G	12: 89,227,234 (GRCm39)	N290D	probably damaging	Het
Nynrin	T	C	14: 56,109,120 (GRCm39)	M1409T	probably benign	Het
Oas1h	T	C	5: 121,005,107 (GRCm39)	L185P	probably damaging	Het
Or10x4	A	T	1: 174,218,848 (GRCm39)	Y71F	probably damaging	Het
Or2z2	C	T	11: 58,346,757 (GRCm39)	W6*	probably null	Het
Or6c3	T	A	10: 129,309,374 (GRCm39)	V271E	possibly damaging	Het
Osbpl8	T	A	10: 111,128,974 (GRCm39)	N853K	probably benign	Het
Pcsk4	G	T	10: 80,159,557 (GRCm39)	P405Q	probably benign	Het
Piwil4	A	C	9: 14,650,685 (GRCm39)		probably null	Het
Pkhd1l1	T	C	15: 44,361,967 (GRCm39)	Y547H	probably damaging	Het
Prr36	TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC	TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC	8: 4,266,273 (GRCm39)		probably benign	Het
Rft1	T	C	14: 30,382,156 (GRCm39)	L51P	probably damaging	Het
Rufy2	T	G	10: 62,833,660 (GRCm39)	L241V	possibly damaging	Het
Slc5a5	T	C	8: 71,343,934 (GRCm39)	I155V	possibly damaging	Het
Slc7a2	T	G	8: 41,351,991 (GRCm39)	M18R	probably damaging	Het
Snapc4	A	G	2: 26,259,375 (GRCm39)	S592P	probably benign	Het
Strn4	T	C	7: 16,550,533 (GRCm39)	W86R	probably damaging	Het
Tenm4	A	G	7: 96,545,244 (GRCm39)	N2457S	probably damaging	Het
Tent4a	T	A	13: 69,658,824 (GRCm39)	D337V	probably damaging	Het
Timd4	C	A	11: 46,706,309 (GRCm39)	T37N	possibly damaging	Het
Tmem268	T	A	4: 63,496,076 (GRCm39)	N172K	probably damaging	Het
Trrap	T	A	5: 144,773,949 (GRCm39)	V2855D	probably benign	Het
Tubb6	A	T	18: 67,534,598 (GRCm39)	T166S	probably damaging	Het
Tufm	A	G	7: 126,088,034 (GRCm39)	Y179C	probably benign	Het
Tut7	T	C	13: 59,933,597 (GRCm39)	N1302D	probably benign	Het
Ube2r2	C	T	4: 41,190,715 (GRCm39)	S203L	possibly damaging	Het
Vldlr	G	T	19: 27,217,946 (GRCm39)	V465L	probably benign	Het
Vmn2r16	C	T	5: 109,488,231 (GRCm39)	T368M	probably benign	Het
Vmn2r42	A	G	7: 8,195,692 (GRCm39)	F485L	probably benign	Het

Other mutations in Neurog2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02512:Neurog2	APN	3	127,427,504 (GRCm39)	nonsense	probably null
R1451:Neurog2	UTSW	3	127,427,490 (GRCm39)	missense	possibly damaging	0.52
R2168:Neurog2	UTSW	3	127,427,754 (GRCm39)	missense	probably damaging	0.98
R5859:Neurog2	UTSW	3	127,427,664 (GRCm39)	missense	probably benign	0.05
R7572:Neurog2	UTSW	3	127,427,550 (GRCm39)	missense	probably damaging	0.96
R8777:Neurog2	UTSW	3	127,427,742 (GRCm39)	missense	probably damaging	0.99
R9695:Neurog2	UTSW	3	127,427,694 (GRCm39)	missense	probably damaging	0.99
X0062:Neurog2	UTSW	3	127,428,068 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

Posted On

2021-03-08