Mutagenetix > Incidental Mutation

Incidental Mutation 'R6537:Nrn1l'

520480

Institutional Source

Beutler Lab

Gene Symbol

Nrn1l

Ensembl Gene

ENSMUSG00000044287

Gene Name

neuritin 1-like

Synonyms

G630049C14Rik

MMRRC Submission

044663-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6537 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106620199-106621655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 106621350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 99 (R99L)

Ref Sequence

ENSEMBL: ENSMUSP00000113445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040254] [ENSMUST00000060167] [ENSMUST00000118920] [ENSMUST00000119261] [ENSMUST00000136048]

AlphaFold

Q8C4W3

Predicted Effect

probably benign
Transcript: ENSMUST00000040254

SMART Domains

Protein: ENSMUSP00000039134
Gene: ENSMUSG00000036270

Domain	Start	End	E-Value	Type
Blast:WD40	33	93	1e-7	BLAST
low complexity region	103	110	N/A	INTRINSIC
WD40	165	205	1.99e0	SMART
low complexity region	243	253	N/A	INTRINSIC
WD40	286	325	1.38e-2	SMART
WD40	333	384	2.3e0	SMART
low complexity region	609	644	N/A	INTRINSIC
low complexity region	664	692	N/A	INTRINSIC
low complexity region	773	785	N/A	INTRINSIC
low complexity region	794	808	N/A	INTRINSIC
low complexity region	891	902	N/A	INTRINSIC
coiled coil region	1001	1030	N/A	INTRINSIC
low complexity region	1267	1285	N/A	INTRINSIC
PDB:2VXG\|B	1286	1402	3e-18	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000060167
AA Change: R100L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056940
Gene: ENSMUSG00000044287
AA Change: R100L

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:NRN1	39	118	2.1e-28	PFAM
transmembrane domain	139	161	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118920
AA Change: R99L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113445
Gene: ENSMUSG00000044287
AA Change: R99L

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:NRN1	38	120	3.4e-27	PFAM
transmembrane domain	138	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119261

SMART Domains

Protein: ENSMUSP00000113854
Gene: ENSMUSG00000036270

Domain	Start	End	E-Value	Type
Blast:WD40	33	93	1e-7	BLAST
low complexity region	103	110	N/A	INTRINSIC
WD40	165	205	1.99e0	SMART
low complexity region	243	253	N/A	INTRINSIC
WD40	286	325	1.38e-2	SMART
WD40	333	384	2.3e0	SMART
low complexity region	609	644	N/A	INTRINSIC
low complexity region	664	692	N/A	INTRINSIC
low complexity region	773	785	N/A	INTRINSIC
low complexity region	794	808	N/A	INTRINSIC
low complexity region	875	886	N/A	INTRINSIC
coiled coil region	985	1014	N/A	INTRINSIC
low complexity region	1251	1269	N/A	INTRINSIC
PDB:2VXG\|B	1270	1386	3e-18	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000136048

SMART Domains

Protein: ENSMUSP00000114285
Gene: ENSMUSG00000036270

Domain	Start	End	E-Value	Type
Blast:WD40	33	93	9e-8	BLAST
low complexity region	103	110	N/A	INTRINSIC
WD40	165	205	1.99e0	SMART
low complexity region	243	253	N/A	INTRINSIC
WD40	286	325	1.38e-2	SMART
low complexity region	549	584	N/A	INTRINSIC
low complexity region	604	632	N/A	INTRINSIC
low complexity region	713	725	N/A	INTRINSIC
low complexity region	734	748	N/A	INTRINSIC
low complexity region	829	840	N/A	INTRINSIC
low complexity region	961	990	N/A	INTRINSIC
low complexity region	1215	1233	N/A	INTRINSIC
PDB:2VXG\|B	1234	1317	1e-14	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156357

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (30/30)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is extracellular and enhances both neurite growth and neuronal survival. The encoded protein is found both as a GPI anchored membrane-bound form and as a secreted form. This activity-related ligand functions as a homodimer or heterodimer. [provided by RefSeq, Feb 2017]
PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc4	T	C	5: 53,000,898 (GRCm39)	S224P	probably damaging	Het
Col6a4	G	A	9: 105,945,153 (GRCm39)	T987M	possibly damaging	Het
Cort	C	T	4: 149,211,081 (GRCm39)	G8E	probably benign	Het
Ctdp1	G	T	18: 80,492,766 (GRCm39)	D576E	probably benign	Het
Ctsq	A	T	13: 61,183,140 (GRCm39)	I334N	probably damaging	Het
Cwc15	A	G	9: 14,413,284 (GRCm39)	D22G	probably damaging	Het
Dnmt3l	G	A	10: 77,887,898 (GRCm39)	G136R	probably null	Het
Fxyd6	A	G	9: 45,302,092 (GRCm39)	I37V	possibly damaging	Het
Gm10604	A	C	4: 11,980,221 (GRCm39)	S28A	unknown	Het
Gm43302	A	G	5: 105,438,861 (GRCm39)	I9T	possibly damaging	Het
Hmcn2	T	C	2: 31,305,280 (GRCm39)	V3151A	probably benign	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Kyat3	A	G	3: 142,435,573 (GRCm39)	T282A	probably benign	Het
Lrp6	T	C	6: 134,457,458 (GRCm39)	E782G	probably benign	Het
Lrrc3b	T	C	14: 15,357,946 (GRCm38)	Y220C	probably damaging	Het
Macf1	C	T	4: 123,386,518 (GRCm39)	S1033N	probably damaging	Het
Mdm1	A	G	10: 117,994,481 (GRCm39)	T452A	probably benign	Het
Pappa	T	A	4: 65,215,519 (GRCm39)	I1142N	probably damaging	Het
Pcsk1	T	C	13: 75,280,358 (GRCm39)	F728L	probably damaging	Het
Ptcd3	T	C	6: 71,874,094 (GRCm39)		probably null	Het
Siglecf	C	T	7: 43,005,423 (GRCm39)	T461I	probably benign	Het
Slc7a8	C	T	14: 54,972,576 (GRCm39)	A282T	probably benign	Het
Srcap	T	C	7: 127,141,392 (GRCm39)	V1724A	probably damaging	Het
Tafa2	T	A	10: 123,429,401 (GRCm39)	M5K	possibly damaging	Het
Tek	A	G	4: 94,725,561 (GRCm39)	Q609R	probably benign	Het
Trim45	C	T	3: 100,832,712 (GRCm39)	A315V	probably benign	Het
Ttbk1	C	T	17: 46,781,236 (GRCm39)	V446M	probably damaging	Het
Wrap53	T	C	11: 69,454,694 (GRCm39)	D225G	possibly damaging	Het
Znhit6	A	G	3: 145,300,374 (GRCm39)	I193V	probably benign	Het

Other mutations in Nrn1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0333:Nrn1l	UTSW	8	106,621,052 (GRCm39)	missense	probably benign	0.04
R2112:Nrn1l	UTSW	8	106,621,378 (GRCm39)	missense	possibly damaging	0.86
R7694:Nrn1l	UTSW	8	106,621,430 (GRCm39)	missense	probably damaging	1.00
R8383:Nrn1l	UTSW	8	106,621,058 (GRCm39)	missense	probably damaging	1.00
Z1176:Nrn1l	UTSW	8	106,621,048 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAATGTCTCATCCGCCTGG -3'
(R):5'- CCAACCAGACTGTTTAGGCCAG -3'

Sequencing Primer
(F):5'- AGGCGAGCTACAGACTGTC -3'
(R):5'- CCAGAGGCCCCAGGAGG -3'

Posted On

2018-06-06