Mutagenetix > Incidental Mutation

Incidental Mutation 'R8383:Nrn1l'

647028

Institutional Source

Beutler Lab

Gene Symbol

Nrn1l

Ensembl Gene

ENSMUSG00000044287

Gene Name

neuritin 1-like

Synonyms

G630049C14Rik

MMRRC Submission

067749-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8383 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106620199-106621655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106621058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 50 (L50P)

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 damaging
Transcript: ENSMUST00000060167
AA Change: L50P

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

SMART Domains

Protein: ENSMUSP00000056940
Gene: ENSMUSG00000044287
AA Change: L50P

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: L49P

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

SMART Domains

Protein: ENSMUSP00000113445
Gene: ENSMUSG00000044287
AA Change: L49P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	A	T	5: 121,745,436 (GRCm39)	M285K	probably damaging	Het
Adcyap1r1	T	C	6: 55,456,985 (GRCm39)	S239P	probably damaging	Het
Alpk1	A	T	3: 127,518,085 (GRCm39)	M72K	probably benign	Het
Alpk2	G	T	18: 65,438,469 (GRCm39)	R975S	probably benign	Het
Ankrd7	A	T	6: 18,868,410 (GRCm39)	K177N	possibly damaging	Het
Asxl1	A	G	2: 153,235,639 (GRCm39)	T272A	probably damaging	Het
Ccdc175	A	G	12: 72,155,952 (GRCm39)	Y666H	possibly damaging	Het
Cyp2j11	T	C	4: 96,236,695 (GRCm39)	N37S	probably benign	Het
Dglucy	A	G	12: 100,801,588 (GRCm39)	D81G	probably benign	Het
Dysf	T	A	6: 83,996,565 (GRCm39)	D22E	probably damaging	Het
Glg1	T	C	8: 111,896,194 (GRCm39)	T177A	possibly damaging	Het
Gm3415	C	T	5: 146,495,228 (GRCm39)	P210L	probably benign	Het
Gm7995	A	G	14: 42,133,321 (GRCm39)	H66R		Het
Habp2	G	A	19: 56,304,768 (GRCm39)	V388M	probably damaging	Het
Hey2	A	G	10: 30,716,665 (GRCm39)	S33P	probably benign	Het
Hmbs	C	T	9: 44,249,240 (GRCm39)	R195H	probably damaging	Het
Hrnr	A	T	3: 93,239,653 (GRCm39)	Y3297F	unknown	Het
Hspg2	T	A	4: 137,271,681 (GRCm39)	H2482Q	possibly damaging	Het
Ifi207	GAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	GGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	1: 173,556,770 (GRCm39)		probably benign	Het
Ifi208	T	A	1: 173,511,075 (GRCm39)	V410E	possibly damaging	Het
Igkv3-7	A	G	6: 70,584,734 (GRCm39)	T25A	probably damaging	Het
Il22ra1	A	G	4: 135,461,451 (GRCm39)	Q72R	probably damaging	Het
Ip6k1	T	A	9: 107,921,926 (GRCm39)	F207I	possibly damaging	Het
Kdm6b	A	G	11: 69,296,876 (GRCm39)	S464P	probably benign	Het
Kirrel3	G	T	9: 34,941,179 (GRCm39)	M601I	probably null	Het
Klk1b1	C	T	7: 43,619,767 (GRCm39)	R109C	possibly damaging	Het
Kmt2e	A	G	5: 23,690,539 (GRCm39)	N518S	probably benign	Het
Myo5b	A	G	18: 74,777,049 (GRCm39)	S370G	probably benign	Het
Nrxn2	A	G	19: 6,522,343 (GRCm39)	Y411C	probably damaging	Het
Obsl1	G	T	1: 75,480,501 (GRCm39)	F374L	possibly damaging	Het
Or1j15	A	T	2: 36,459,014 (GRCm39)	I135F	probably benign	Het
Or1j20	A	G	2: 36,760,343 (GRCm39)	Y255C	probably damaging	Het
Or5t5	A	G	2: 86,616,874 (GRCm39)	I267V	probably benign	Het
Panx3	T	A	9: 37,578,049 (GRCm39)		probably null	Het
Piezo2	A	T	18: 63,217,759 (GRCm39)	F1139L	probably damaging	Het
Pld2	G	A	11: 70,442,255 (GRCm39)	D380N	possibly damaging	Het
Plekha7	A	C	7: 115,744,154 (GRCm39)	N715K	probably damaging	Het
Pom121l12	T	A	11: 14,549,353 (GRCm39)	S20T	probably benign	Het
Rasal1	C	T	5: 120,804,420 (GRCm39)	R431C	probably benign	Het
Rdh8	G	A	9: 20,734,081 (GRCm39)		probably null	Het
Rgl3	G	A	9: 21,888,529 (GRCm39)	T427I	probably damaging	Het
Rnf17	TG	T	14: 56,661,999 (GRCm39)	132	probably null	Het
Sclt1	A	C	3: 41,696,450 (GRCm39)	I5S	probably benign	Het
Seh1l	A	G	18: 67,908,126 (GRCm39)	H16R	possibly damaging	Het
Sgca	G	A	11: 94,863,068 (GRCm39)	P95L	probably benign	Het
Spag17	T	G	3: 99,992,708 (GRCm39)	S1735A	probably damaging	Het
Tdrd3	T	C	14: 87,743,744 (GRCm39)	I564T	probably benign	Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	11: 94,105,203 (GRCm39)		probably benign	Het
Trpv3	T	G	11: 73,180,127 (GRCm39)	F524V	probably benign	Het
Ttc41	A	G	10: 86,555,390 (GRCm39)	N282S	probably benign	Het
Txnrd2	T	C	16: 18,291,614 (GRCm39)	L421P	possibly damaging	Het
Tyr	A	T	7: 87,133,200 (GRCm39)	C289S	probably damaging	Het
Ubn1	A	G	16: 4,895,222 (GRCm39)	E756G	possibly damaging	Het
Vps13a	A	T	19: 16,701,069 (GRCm39)	M700K	possibly damaging	Het
Zfhx2	A	G	14: 55,311,528 (GRCm39)	S389P	possibly damaging	Het
Zfp667	T	C	7: 6,308,370 (GRCm39)	L346P	probably damaging	Het
Zfp945	A	G	17: 23,070,798 (GRCm39)	M388T	probably benign	Het
Zfp992	A	G	4: 146,551,133 (GRCm39)	I285V	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
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
Z1176:Nrn1l	UTSW	8	106,621,048 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAAGTGATCTCCAGCTACC -3'
(R):5'- GGGTTAGAGCACAACGATTTGG -3'

Sequencing Primer
(F):5'- GTGATCTCCAGCTACCCTGAAG -3'
(R):5'- GCACAACGATTTGGACTGG -3'

Posted On

2020-09-02