Mutagenetix > Incidental Mutation

Incidental Mutation 'R8224:Nrn1'

636905

Institutional Source

Beutler Lab

Gene Symbol

Nrn1

Ensembl Gene

ENSMUSG00000039114

Gene Name

neuritin 1

Synonyms

0710008J23Rik, cpg15

MMRRC Submission

067660-MU

Accession Numbers

Essential gene?

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

Stock #

R8224 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36909596-36918451 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36918258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 3 (L3F)

Ref Sequence

ENSEMBL: ENSMUSP00000040900 (fasta)

Gene Model

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

AlphaFold

Q8CFV4

Predicted Effect

probably damaging
Transcript: ENSMUST00000037623
AA Change: L3F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040900
Gene: ENSMUSG00000039114
AA Change: L3F

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

Predicted Effect

probably benign
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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.3%

Validation Efficiency

100% (49/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,094,249 (GRCm39)	E45V	probably damaging	Het
Adamts9	A	T	6: 92,773,351 (GRCm39)	V1754D	probably damaging	Het
Ankrd26	G	A	6: 118,502,716 (GRCm39)	T818M	probably damaging	Het
Card11	T	C	5: 140,888,632 (GRCm39)	E242G	possibly damaging	Het
Cdh20	G	T	1: 109,921,933 (GRCm39)	L8F	probably benign	Het
Cenpa	T	C	5: 30,830,699 (GRCm39)		probably benign	Het
Cfap61	T	C	2: 145,781,800 (GRCm39)	V11A	probably benign	Het
Chfr	T	A	5: 110,308,109 (GRCm39)		probably null	Het
Col14a1	A	T	15: 55,271,137 (GRCm39)	Y630F	unknown	Het
Cst5	A	G	2: 149,251,902 (GRCm39)	N126D	possibly damaging	Het
Cubn	T	C	2: 13,354,688 (GRCm39)	T1903A	probably benign	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Gon4l	A	G	3: 88,802,449 (GRCm39)	E1020G	probably damaging	Het
Gp1ba	A	G	11: 70,530,683 (GRCm39)	N150D	unknown	Het
Gstm2	T	C	3: 107,891,314 (GRCm39)	I169V	probably benign	Het
Ighv1-75	A	T	12: 115,797,859 (GRCm39)	V21D	probably benign	Het
Il7	T	C	3: 7,642,308 (GRCm39)	M51V	possibly damaging	Het
Insm2	A	T	12: 55,646,763 (GRCm39)	D169V	probably damaging	Het
Jmjd1c	A	G	10: 67,080,628 (GRCm39)	D373G	noncoding transcript	Het
Kif16b	T	C	2: 142,676,008 (GRCm39)	N431D	probably benign	Het
Kmt2a	A	C	9: 44,719,326 (GRCm39)	I3925S	unknown	Het
Lgi4	G	A	7: 30,763,017 (GRCm39)	C164Y	probably damaging	Het
Lrfn5	A	T	12: 61,890,192 (GRCm39)	I494F	possibly damaging	Het
Map9	T	C	3: 82,266,370 (GRCm39)	I5T	probably benign	Het
Ncf2	T	C	1: 152,706,144 (GRCm39)	V252A	possibly damaging	Het
Nlrp4g	A	T	9: 124,353,374 (GRCm38)	I573F	noncoding transcript	Het
Or1ab2	A	G	8: 72,864,223 (GRCm39)	D271G	noncoding transcript	Het
Or2d2	T	A	7: 106,728,079 (GRCm39)	I174F	probably damaging	Het
Or5h24	A	T	16: 58,919,117 (GRCm39)	D79E	unknown	Het
Or6c8	A	G	10: 128,915,304 (GRCm39)	F176S	possibly damaging	Het
Otop1	C	A	5: 38,457,846 (GRCm39)	T535K	possibly damaging	Het
Pacs2	A	G	12: 113,023,380 (GRCm39)	T333A	probably damaging	Het
Pax3	T	C	1: 78,098,327 (GRCm39)	Y354C	probably damaging	Het
Phlpp1	T	C	1: 106,320,348 (GRCm39)	S1448P	probably damaging	Het
Pias4	C	A	10: 81,003,565 (GRCm39)		probably benign	Het
Ppp1r12b	T	C	1: 134,830,200 (GRCm39)	N113S	probably benign	Het
Ptpn12	G	T	5: 21,203,656 (GRCm39)	P374Q	probably damaging	Het
Reg4	A	T	3: 98,132,011 (GRCm39)		probably benign	Het
Sh3bp5	T	C	14: 31,099,473 (GRCm39)	D256G	probably damaging	Het
Slc25a32	C	G	15: 38,976,015 (GRCm39)		probably benign	Het
Tnip2	C	T	5: 34,671,003 (GRCm39)	R80Q	possibly damaging	Het
Uroc1	A	G	6: 90,321,049 (GRCm39)		probably null	Het
Washc2	A	C	6: 116,218,457 (GRCm39)	K634T	probably damaging	Het
Xpot	A	T	10: 121,443,513 (GRCm39)	Y405N	probably damaging	Het
Yes1	T	C	5: 32,816,417 (GRCm39)	Y365H	probably benign	Het
Zfp607a	A	T	7: 27,577,536 (GRCm39)	E202V	probably damaging	Het
Zfp932	T	C	5: 110,144,480 (GRCm39)		probably benign	Het
Zfp947	A	C	17: 22,364,363 (GRCm39)	M437R	probably benign	Het
Zscan10	A	G	17: 23,828,366 (GRCm39)	T303A	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
IGL02938: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
R9294:Nrn1	UTSW	13	36,910,648 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGAGCTAATGCCCCGACTC -3'
(R):5'- GAGTGAACCATTCCCAGCTC -3'

Sequencing Primer
(F):5'- ACTCAGGGAGTCTGCAGG -3'
(R):5'- CCCGCGTTCTCTAAACTA -3'

Posted On

2020-07-13