Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02938:Nrn1'

364446

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nrn1

Ensembl Gene

ENSMUSG00000039114

Gene Name

neuritin 1

Synonyms

0710008J23Rik, cpg15

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.317) question?

Stock #

IGL02938

Quality Score

Status

Chromosome

Chromosomal Location

36909596-36918451 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 36914080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037623] [ENSMUST00000122286] [ENSMUST00000223611] [ENSMUST00000224323] [ENSMUST00000224960]

AlphaFold

Q8CFV4

Predicted Effect

probably null
Transcript: ENSMUST00000037623

SMART Domains

Protein: ENSMUSP00000040900
Gene: ENSMUSG00000039114

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:NRN1	31	120	1e-47	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000122286

SMART Domains

Protein: ENSMUSP00000113721
Gene: ENSMUSG00000039114

Domain	Start	End	E-Value	Type
Pfam:NRN1	47	133	2.7e-42	PFAM
transmembrane domain	134	156	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000223611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223623

Predicted Effect

probably null
Transcript: ENSMUST00000224323

Predicted Effect

probably null
Transcript: ENSMUST00000224960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225048

Meta Mutation Damage Score

0.9484

Coding Region Coverage

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 neuritin family, and is expressed in postmitotic-differentiating neurons of the developmental nervous system and neuronal structures associated with plasticity in the adult. The expression of this gene can be induced by neural activity and neurotrophins. The encoded protein contains a consensus cleavage signal found in glycosylphoshatidylinositol (GPI)-anchored proteins. The encoded protein promotes neurite outgrowth and arborization, suggesting its role in promoting neuritogenesis. Overexpression of the encoded protein may be associated with astrocytoma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduction in body length and body weight, delayed axonal, dendritic, and synaptic development, reduced dendritic spine maintenance leading to gradual spine loss, and impaired associative and spatial learning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	C	16: 20,180,979 (GRCm39)	T1152A	possibly damaging	Het
Adgra3	T	C	5: 50,118,659 (GRCm39)	D963G	probably benign	Het
Adrm1	T	A	2: 179,817,395 (GRCm39)	D287E	probably damaging	Het
Agxt	A	G	1: 93,072,831 (GRCm39)	D396G	probably damaging	Het
Ankle1	C	T	8: 71,858,896 (GRCm39)	A43V	probably damaging	Het
Apc	A	G	18: 34,448,281 (GRCm39)	I1692V	probably damaging	Het
Arhgef18	T	C	8: 3,500,802 (GRCm39)	V588A	probably benign	Het
Ccdc62	T	A	5: 124,072,247 (GRCm39)	V4E	probably benign	Het
Cdh16	A	T	8: 105,343,561 (GRCm39)		probably benign	Het
Cr2	A	T	1: 194,848,696 (GRCm39)	C276S	probably damaging	Het
Cyp2c29	T	A	19: 39,275,567 (GRCm39)	D2E	probably damaging	Het
Ddx31	T	A	2: 28,749,035 (GRCm39)	V277E	possibly damaging	Het
Defa35	C	T	8: 21,555,930 (GRCm39)		probably benign	Het
Dhx9	A	T	1: 153,340,376 (GRCm39)	D707E	probably benign	Het
Dnmt1	A	G	9: 20,852,669 (GRCm39)	S28P	probably benign	Het
Dock5	A	T	14: 67,994,667 (GRCm39)		probably benign	Het
Dpp6	T	C	5: 27,928,365 (GRCm39)		probably benign	Het
Egln1	A	G	8: 125,640,754 (GRCm39)		probably null	Het
Esr1	T	A	10: 4,733,872 (GRCm39)	M224K	probably damaging	Het
Flt1	A	G	5: 147,615,109 (GRCm39)	I279T	possibly damaging	Het
Fzd6	T	C	15: 38,897,285 (GRCm39)	I478T	probably benign	Het
Glb1l3	A	G	9: 26,738,055 (GRCm39)	V368A	probably benign	Het
Gltpd2	T	C	11: 70,410,637 (GRCm39)	F5S	probably damaging	Het
Helz	G	A	11: 107,577,264 (GRCm39)	E1872K	unknown	Het
Irak3	A	G	10: 120,018,429 (GRCm39)		probably null	Het
Itsn2	A	T	12: 4,747,216 (GRCm39)	I1206F	probably damaging	Het
Lingo3	A	T	10: 80,670,988 (GRCm39)	V314E	probably benign	Het
Lrrc8a	C	T	2: 30,145,698 (GRCm39)	R171W	probably damaging	Het
Lsg1	T	C	16: 30,390,024 (GRCm39)	T364A	probably benign	Het
Mks1	T	C	11: 87,753,478 (GRCm39)		probably null	Het
Mov10l1	T	A	15: 88,872,729 (GRCm39)	F89Y	probably damaging	Het
Myo1b	A	C	1: 51,840,337 (GRCm39)		probably null	Het
Myo1h	T	C	5: 114,497,000 (GRCm39)	Y819H	probably damaging	Het
Nedd1	G	A	10: 92,525,519 (GRCm39)	Q597*	probably null	Het
Or5an9	A	G	19: 12,187,046 (GRCm39)	T39A	probably benign	Het
Pbrm1	T	C	14: 30,789,761 (GRCm39)	S792P	probably damaging	Het
Pccb	T	C	9: 100,866,449 (GRCm39)	N457S	probably benign	Het
Plekho2	T	C	9: 65,465,902 (GRCm39)	E162G	possibly damaging	Het
Pou1f1	A	T	16: 65,320,430 (GRCm39)	T40S	probably benign	Het
Pwwp2b	T	C	7: 138,836,059 (GRCm39)	V500A	probably damaging	Het
Pygo1	C	T	9: 72,852,020 (GRCm39)	A69V	probably damaging	Het
Slc18a3	A	C	14: 32,185,772 (GRCm39)	Y204D	probably damaging	Het
Stab2	A	G	10: 86,707,785 (GRCm39)	V261A	possibly damaging	Het
Tacc2	A	T	7: 130,330,671 (GRCm39)	K208N	probably damaging	Het
Tbc1d4	T	C	14: 101,738,536 (GRCm39)	D403G	probably damaging	Het
Tbc1d9	T	A	8: 83,995,696 (GRCm39)		probably benign	Het
Tdrkh	T	C	3: 94,336,657 (GRCm39)		probably benign	Het
Tktl2	T	A	8: 66,964,982 (GRCm39)	L180H	probably damaging	Het
Tm4sf19	T	A	16: 32,224,733 (GRCm39)	L27Q	probably damaging	Het
Tmtc2	A	G	10: 105,249,157 (GRCm39)	V192A	probably damaging	Het
Ttn	C	A	2: 76,543,328 (GRCm39)	M33219I	probably damaging	Het
Vmn1r52	A	T	6: 90,156,295 (GRCm39)	M200L	possibly damaging	Het
Vmn2r114	T	A	17: 23,510,263 (GRCm39)	H739L	probably benign	Het
Wdr20rt	T	C	12: 65,272,692 (GRCm39)	F52L	probably benign	Het
Zbtb38	C	T	9: 96,569,227 (GRCm39)	G619D	probably benign	Het
Zfyve19	T	C	2: 119,041,999 (GRCm39)	V156A	probably benign	Het

Other mutations in Nrn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01139:Nrn1	APN	13	36,914,190 (GRCm39)	missense	probably damaging	1.00
IGL02801:Nrn1	APN	13	36,914,080 (GRCm39)	critical splice donor site	probably null
IGL02816:Nrn1	APN	13	36,914,080 (GRCm39)	critical splice donor site	probably null
IGL02838:Nrn1	APN	13	36,914,080 (GRCm39)	critical splice donor site	probably null
IGL02859:Nrn1	APN	13	36,914,080 (GRCm39)	critical splice donor site	probably null
IGL02881:Nrn1	APN	13	36,914,080 (GRCm39)	critical splice donor site	probably null
IGL02900:Nrn1	APN	13	36,914,080 (GRCm39)	critical splice donor site	probably null
IGL02927:Nrn1	APN	13	36,914,080 (GRCm39)	critical splice donor site	probably null
IGL02942:Nrn1	APN	13	36,914,080 (GRCm39)	critical splice donor site	probably null
IGL03144:Nrn1	APN	13	36,914,080 (GRCm39)	critical splice donor site	probably null
IGL02802:Nrn1	UTSW	13	36,914,080 (GRCm39)	critical splice donor site	probably null
R0172:Nrn1	UTSW	13	36,914,544 (GRCm39)	missense	probably benign
R2126:Nrn1	UTSW	13	36,914,180 (GRCm39)	missense	probably damaging	1.00
R5986:Nrn1	UTSW	13	36,918,238 (GRCm39)	nonsense	probably null
R7226:Nrn1	UTSW	13	36,914,577 (GRCm39)	missense	probably benign	0.03
R7426:Nrn1	UTSW	13	36,910,825 (GRCm39)	missense	probably damaging	1.00
R8224:Nrn1	UTSW	13	36,918,258 (GRCm39)	missense	probably damaging	0.98
R9294:Nrn1	UTSW	13	36,910,648 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-12-18