Mutagenetix > Incidental Mutation

Incidental Mutation 'R0333:Nrn1l'

38337

Institutional Source

Beutler Lab

Gene Symbol

Nrn1l

Ensembl Gene

ENSMUSG00000044287

Gene Name

neuritin 1-like

Synonyms

G630049C14Rik

MMRRC Submission

038542-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0333 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106620199-106621655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106621052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 48 (E48G)

Ref Sequence

ENSEMBL: ENSMUSP00000056940 (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 benign
Transcript: ENSMUST00000060167
AA Change: E48G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000056940
Gene: ENSMUSG00000044287
AA Change: E48G

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 benign
Transcript: ENSMUST00000118920
AA Change: E47G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113445
Gene: ENSMUSG00000044287
AA Change: E47G

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: ENSMUST00000132680

SMART Domains

Protein: ENSMUSP00000114209
Gene: ENSMUSG00000036270

Domain	Start	End	E-Value	Type
low complexity region	189	224	N/A	INTRINSIC
low complexity region	245	273	N/A	INTRINSIC
low complexity region	354	366	N/A	INTRINSIC
low complexity region	375	389	N/A	INTRINSIC

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

Meta Mutation Damage Score

0.1977

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (53/53)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alas1	T	C	9: 106,118,480 (GRCm39)	N214S	probably benign	Het
Antxr1	A	G	6: 87,165,820 (GRCm39)		probably benign	Het
Atxn7l3	A	T	11: 102,185,818 (GRCm39)		probably null	Het
Cab39l	A	G	14: 59,737,060 (GRCm39)	E60G	probably damaging	Het
Cdc5l	G	T	17: 45,704,142 (GRCm39)		probably benign	Het
Cux2	T	C	5: 121,998,671 (GRCm39)	E1423G	probably benign	Het
Dbndd1	G	T	8: 124,233,512 (GRCm39)	Q165K	probably damaging	Het
Drd1	C	A	13: 54,208,082 (GRCm39)	C37F	probably damaging	Het
Elp3	G	A	14: 65,828,042 (GRCm39)	P11L	probably benign	Het
F830045P16Rik	A	G	2: 129,314,777 (GRCm39)	Y167H	probably damaging	Het
Gimap3	G	A	6: 48,742,664 (GRCm39)	Q89*	probably null	Het
H2ac25	C	A	11: 58,845,685 (GRCm39)	S41*	probably null	Het
Herc1	G	A	9: 66,371,981 (GRCm39)		probably null	Het
Ipo11	A	G	13: 107,007,271 (GRCm39)	V603A	probably benign	Het
Kifap3	G	A	1: 163,624,833 (GRCm39)	A130T	probably damaging	Het
Klhl23	A	G	2: 69,664,241 (GRCm39)	Y530C	probably damaging	Het
Map4k1	C	T	7: 28,699,186 (GRCm39)		probably benign	Het
Mroh2b	T	A	15: 4,960,600 (GRCm39)	L778M	probably damaging	Het
Mtdh	T	C	15: 34,118,247 (GRCm39)	S344P	possibly damaging	Het
Ncoa3	T	G	2: 165,896,211 (GRCm39)	N371K	probably damaging	Het
Ncor2	C	A	5: 125,111,408 (GRCm39)		probably benign	Het
Nudcd1	A	G	15: 44,264,683 (GRCm39)	I271T	probably benign	Het
Or1e17	A	T	11: 73,831,593 (GRCm39)	I174F	possibly damaging	Het
Or2t1	T	C	14: 14,328,498 (GRCm38)	L129P	probably damaging	Het
Pard3b	A	G	1: 62,269,371 (GRCm39)	N653S	probably benign	Het
Plekhg1	A	C	10: 3,914,419 (GRCm39)	K1380N	probably damaging	Het
Ppara	T	A	15: 85,675,161 (GRCm39)	I210N	probably damaging	Het
Ppp2r5b	A	G	19: 6,279,077 (GRCm39)		probably benign	Het
Prkn	T	C	17: 11,286,027 (GRCm39)	F6L	probably damaging	Het
Prr14l	A	G	5: 32,985,337 (GRCm39)	L1386P	probably damaging	Het
Ralgapa1	A	G	12: 55,829,685 (GRCm39)		probably benign	Het
Reln	A	T	5: 22,134,240 (GRCm39)	L2563I	probably damaging	Het
Rps7	A	G	12: 28,681,200 (GRCm39)		probably benign	Het
Rslcan18	T	C	13: 67,246,686 (GRCm39)	K309E	probably damaging	Het
Sec14l5	C	T	16: 4,984,930 (GRCm39)	T92M	probably damaging	Het
Slc22a8	G	A	19: 8,585,514 (GRCm39)		probably benign	Het
Smad2	G	A	18: 76,395,692 (GRCm39)	A44T	probably damaging	Het
Smcr8	T	C	11: 60,671,048 (GRCm39)	V732A	possibly damaging	Het
Spata2l	A	G	8: 123,960,371 (GRCm39)	F306S	probably damaging	Het
Stab2	T	C	10: 86,677,491 (GRCm39)	D2552G	probably benign	Het
Tctn3	A	T	19: 40,595,711 (GRCm39)	L358H	possibly damaging	Het
Tk2	C	T	8: 104,975,146 (GRCm39)		probably benign	Het
Tm6sf2	C	T	8: 70,530,564 (GRCm39)	R215C	probably damaging	Het
Tmbim6	T	C	15: 99,304,555 (GRCm39)	I204T	probably damaging	Het
Tubgcp2	C	A	7: 139,579,260 (GRCm39)	W675C	probably damaging	Het
Usp48	T	A	4: 137,321,794 (GRCm39)	I62N	probably damaging	Het
Vmn2r74	T	C	7: 85,601,491 (GRCm39)	T716A	probably benign	Het
Vps13b	C	A	15: 35,879,949 (GRCm39)	T3008K	probably damaging	Het
Wnk1	G	A	6: 119,905,124 (GRCm39)		probably benign	Het

Other mutations in Nrn1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2112:Nrn1l	UTSW	8	106,621,378 (GRCm39)	missense	possibly damaging	0.86
R6537:Nrn1l	UTSW	8	106,621,350 (GRCm39)	missense	probably damaging	1.00
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'- GACTACAGGAAGACTGCCTTCTGC -3'
(R):5'- CGATTTGGACTGGGAAGAGACTCG -3'

Sequencing Primer
(F):5'- TGAGAGTTAAGCCAAGTGATCTCC -3'
(R):5'- GGTGGTGCAGTAGCATAGATTG -3'

Posted On

2013-05-23