Mutagenetix > Incidental Mutation

Incidental Mutation 'RF006:Rtn4'

602837

Institutional Source

Beutler Lab

Gene Symbol

Rtn4

Ensembl Gene

ENSMUSG00000020458

Gene Name

reticulon 4

Synonyms

NOGO, C130026I10Rik, NgA, 1110020G17Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.765) question?

Stock #

RF006 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29692947-29744331 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29706919 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 358 (S358P)

Ref Sequence

ENSEMBL: ENSMUSP00000099907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078830] [ENSMUST00000102841] [ENSMUST00000102842] [ENSMUST00000102843] [ENSMUST00000170731]

AlphaFold

Q99P72

Predicted Effect

probably benign
Transcript: ENSMUST00000078830

SMART Domains

Protein: ENSMUSP00000077875
Gene: ENSMUSG00000020458

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	31	57	N/A	INTRINSIC
low complexity region	60	77	N/A	INTRINSIC
low complexity region	85	100	N/A	INTRINSIC
low complexity region	109	129	N/A	INTRINSIC
low complexity region	134	160	N/A	INTRINSIC
Pfam:Reticulon	169	339	4.2e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102841
AA Change: S242P

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099905
Gene: ENSMUSG00000020458
AA Change: S242P

Domain	Start	End	E-Value	Type
low complexity region	102	110	N/A	INTRINSIC
Pfam:Reticulon	859	1029	6.3e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102842

SMART Domains

Protein: ENSMUSP00000099906
Gene: ENSMUSG00000020458

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	31	57	N/A	INTRINSIC
low complexity region	60	77	N/A	INTRINSIC
low complexity region	85	100	N/A	INTRINSIC
low complexity region	109	129	N/A	INTRINSIC
low complexity region	134	160	N/A	INTRINSIC
Pfam:Reticulon	188	358	4.8e-58	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102843
AA Change: S358P

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099907
Gene: ENSMUSG00000020458
AA Change: S358P

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	31	57	N/A	INTRINSIC
low complexity region	60	77	N/A	INTRINSIC
low complexity region	85	100	N/A	INTRINSIC
low complexity region	109	129	N/A	INTRINSIC
low complexity region	134	160	N/A	INTRINSIC
low complexity region	218	226	N/A	INTRINSIC
Pfam:Reticulon	975	1139	2.4e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170731

SMART Domains

Protein: ENSMUSP00000126413
Gene: ENSMUSG00000020458

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	31	57	N/A	INTRINSIC
low complexity region	60	77	N/A	INTRINSIC
low complexity region	85	100	N/A	INTRINSIC
low complexity region	109	129	N/A	INTRINSIC
low complexity region	134	160	N/A	INTRINSIC
Pfam:Reticulon	169	339	4.2e-58	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

97% (36/37)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. The product of this gene is a potent neurite outgrowth inhibitor which may also help block the regeneration of the central nervous system in higher vertebrates. Alternatively spliced transcript variants derived both from differential splicing and differential promoter usage and encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice lacking the A and B isoforms are viable and one line shows enhanced regeneration and recovery after spinal cord injury. Different lines of mice lacking isoforms A, B, and C show varying phenotypes. Whereas some produce viable homozygotes, others are embryonic lethal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	A	T	9: 92,352,649	I146F	possibly damaging	Het
4930548H24Rik	C	T	5: 31,487,550	Q216*	probably null	Het
Acbd7	GTT	GT	2: 3,340,699		probably null	Het
Acp7	A	T	7: 28,614,779	N330K	possibly damaging	Het
Adam25	A	T	8: 40,755,797	H700L	probably benign	Het
Alg9	GGGTGG	GGGTGGTGG	9: 50,775,417		probably benign	Het
Atp8b3	A	T	10: 80,526,236	V689E	probably benign	Het
Atxn2l	A	G	7: 126,495,891	V533A	probably benign	Het
C87414	A	T	5: 93,636,703	C301S	probably benign	Het
Catsperb	G	A	12: 101,575,979		probably null	Het
Ccdc13	T	C	9: 121,814,207	K376R	probably damaging	Het
Ccdc170	C	CCAA	10: 4,561,030		probably benign	Het
Cdh9	G	C	15: 16,855,830	R652P	probably damaging	Het
Cenpf	A	C	1: 189,657,386	C1416W	probably damaging	Het
Chga	GCA	GCATCA	12: 102,561,412		probably benign	Het
Cyb5r4	TGTGACAGACACACTGCCCAGGGAAG	TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG	9: 87,040,425		probably benign	Het
Cyb5r4	CCCAGGGA	CCCAGGGATGTGAGAGACACGCTGGCCAGGGA	9: 87,040,441		probably benign	Het
Dennd3	T	C	15: 73,547,592	I744T	probably damaging	Het
Dnah1	C	T	14: 31,307,875	R491Q	probably benign	Het
Eif4a2	A	T	16: 23,110,278	M188L	possibly damaging	Het
Esf1	CTCCTCTTC	CTC	2: 140,164,374		probably benign	Het
Fat3	T	C	9: 15,998,617	I2030V	probably benign	Het
Gab3	CTT	CTTTTT	X: 75,000,027		probably benign	Het
Gins4	A	T	8: 23,227,167	V195E	possibly damaging	Het
Gm17402	TCCTCCTCC	TCCTCCTCCCCCTCCTCC	3: 67,365,559		probably benign	Het
Gm17604	CTCTCTTTC	CTC	X: 165,003,818		probably null	Het
Gm8369	GTGTGT	GTGTGTTTGTGT	19: 11,511,764		probably benign	Het
Gnpnat1	T	A	14: 45,383,443		probably null	Het
Inpp4a	A	C	1: 37,388,827	N651T	possibly damaging	Het
Ireb2	T	C	9: 54,881,484	F81L	possibly damaging	Het
Kcnh3	T	A	15: 99,239,928		probably null	Het
Kmt2b	CTCCTC	CTCCTCATCCTC	7: 30,586,377		probably benign	Het
Kmt2c	TG	TGCTGTGG	5: 25,315,772		probably benign	Het
Myt1	T	C	2: 181,797,773	S405P	probably damaging	Het
Net1	T	C	13: 3,887,406	T245A	probably benign	Het
Nkx2-1	T	C	12: 56,533,547	T203A	probably damaging	Het
Oas3	T	C	5: 120,774,100	E75G	probably damaging	Het
Pappa	T	A	4: 65,323,873	D1491E	probably benign	Het
Pkhd1l1	C	A	15: 44,503,238	T704K	probably benign	Het
Pkhd1l1	TT	TTTTTTTTTGT	15: 44,558,507		probably benign	Het
Ppp1r8	TCTCTCAC	TC	4: 132,830,617		probably benign	Het
Ppp2r3c	T	A	12: 55,293,815	I157F	probably benign	Het
Rspo4	C	T	2: 151,867,877		probably null	Het
Siglecg	T	A	7: 43,408,864	Y58*	probably null	Het
Slc4a1	C	T	11: 102,356,716		probably null	Het
Slc9b1	CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG	CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG	3: 135,357,542		probably benign	Het
Smc2	T	A	4: 52,442,276	D64E	probably benign	Het
Spaca1	CTCGC	CTCGCTATCGC	4: 34,049,853		probably benign	Het
Srrm2	A	G	17: 23,812,588	S236G	unknown	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Strn	TGCTCCCTTACCCCAGTC	TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC	17: 78,677,271		probably null	Het
Tfeb	CAG	CAGGAG	17: 47,786,113		probably benign	Het
Tktl2	A	T	8: 66,512,852	E354V	probably benign	Het
Tpte	A	G	8: 22,306,943	T94A	probably benign	Het
Usp40	A	C	1: 87,967,195	S868A	possibly damaging	Het
Vmn2r24	G	A	6: 123,806,419	C526Y	probably damaging	Het
Vmn2r58	CAAAATGATGTAGCACTT	C	7: 41,836,959		probably null	Het

Other mutations in Rtn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01784:Rtn4	APN	11	29707291	missense	probably damaging	1.00
IGL02187:Rtn4	APN	11	29708291	missense	possibly damaging	0.78
IGL02475:Rtn4	APN	11	29733801	missense	probably damaging	1.00
IGL02751:Rtn4	APN	11	29706409	critical splice acceptor site	probably null
R0063:Rtn4	UTSW	11	29705527	intron	probably benign
R0110:Rtn4	UTSW	11	29733849	splice site	probably benign
R0510:Rtn4	UTSW	11	29733849	splice site	probably benign
R0653:Rtn4	UTSW	11	29707256	missense	probably damaging	1.00
R0658:Rtn4	UTSW	11	29706475	missense	probably damaging	1.00
R1353:Rtn4	UTSW	11	29707595	missense	probably damaging	1.00
R1384:Rtn4	UTSW	11	29736437	missense	probably damaging	1.00
R1406:Rtn4	UTSW	11	29708236	missense	probably benign	0.21
R1406:Rtn4	UTSW	11	29708236	missense	probably benign	0.21
R1873:Rtn4	UTSW	11	29736437	missense	probably damaging	1.00
R1960:Rtn4	UTSW	11	29736464	missense	probably damaging	1.00
R1980:Rtn4	UTSW	11	29708634	missense	probably benign	0.00
R2319:Rtn4	UTSW	11	29707154	missense	probably benign	0.06
R2888:Rtn4	UTSW	11	29693687	missense	probably damaging	0.98
R3150:Rtn4	UTSW	11	29693308	small deletion	probably benign
R3403:Rtn4	UTSW	11	29707690	missense	probably benign	0.12
R3974:Rtn4	UTSW	11	29707505	missense	probably damaging	1.00
R3977:Rtn4	UTSW	11	29693819	missense	probably benign	0.01
R4223:Rtn4	UTSW	11	29706856	missense	probably benign	0.02
R4725:Rtn4	UTSW	11	29708362	missense	probably damaging	1.00
R4801:Rtn4	UTSW	11	29708660	missense	probably benign	0.21
R4802:Rtn4	UTSW	11	29708660	missense	probably benign	0.21
R4974:Rtn4	UTSW	11	29740994	missense	probably damaging	1.00
R4983:Rtn4	UTSW	11	29707217	missense	probably benign	0.43
R5292:Rtn4	UTSW	11	29707924	missense	probably benign	0.39
R5332:Rtn4	UTSW	11	29733645	missense	probably damaging	1.00
R5551:Rtn4	UTSW	11	29741011	missense	probably damaging	1.00
R5604:Rtn4	UTSW	11	29708140	missense	probably damaging	0.97
R6046:Rtn4	UTSW	11	29708023	missense	probably damaging	1.00
R6928:Rtn4	UTSW	11	29706791	missense	possibly damaging	0.92
R7386:Rtn4	UTSW	11	29707772	missense	probably damaging	1.00
R7743:Rtn4	UTSW	11	29733790	nonsense	probably null
R7784:Rtn4	UTSW	11	29741048	nonsense	probably null
R7832:Rtn4	UTSW	11	29741048	nonsense	probably null
R7846:Rtn4	UTSW	11	29693274	missense	unknown
R7896:Rtn4	UTSW	11	29705536	missense	probably damaging	1.00
R8297:Rtn4	UTSW	11	29705536	missense	probably damaging	1.00
R8420:Rtn4	UTSW	11	29707300	missense	probably damaging	0.99
R8724:Rtn4	UTSW	11	29693316	missense	unknown
R8823:Rtn4	UTSW	11	29706609	missense	probably benign	0.05
R8872:Rtn4	UTSW	11	29708633	missense	probably benign	0.17
R9196:Rtn4	UTSW	11	29708471	missense	probably benign	0.00
R9223:Rtn4	UTSW	11	29706778	missense	probably benign	0.00
R9384:Rtn4	UTSW	11	29708471	missense	probably benign	0.00
R9493:Rtn4	UTSW	11	29741011	missense	probably damaging	1.00
R9655:Rtn4	UTSW	11	29707504	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAGAGTCAGCCATGTTAGTAG -3'
(R):5'- CCTGGGGAAAGAAGCATTCTC -3'

Sequencing Primer
(F):5'- GTCAGCCATGTTAGTAGAAAACAC -3'
(R):5'- CCTGGGGAAAGAAGCATTCTCATTTC -3'

Posted On

2019-12-04