Mutagenetix > Incidental Mutations

Incidental Mutation 'R7784:Rtn4'

599452

Institutional Source

Beutler Lab

Gene Symbol

Rtn4

Ensembl Gene

ENSMUSG00000020458

Gene Name

reticulon 4

Synonyms

NOGO, C130026I10Rik, NgA, 1110020G17Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.844) question?

Stock #

R7784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29692947-29744331 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 29741048 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 1113 (L1113*)

Ref Sequence

ENSEMBL: ENSMUSP00000099907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058902] [ENSMUST00000060992] [ENSMUST00000078830] [ENSMUST00000102841] [ENSMUST00000102842] [ENSMUST00000102843] [ENSMUST00000170731]

AlphaFold

Q99P72

Predicted Effect

probably benign
Transcript: ENSMUST00000058902

SMART Domains

Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072

Domain	Start	End	E-Value	Type
low complexity region	36	47	N/A	INTRINSIC
WD40	49	91	1.79e-1	SMART
WD40	94	136	1.42e-4	SMART
WD40	139	178	5.31e-4	SMART
WD40	184	224	8.84e1	SMART
WD40	225	263	3.75e-4	SMART
WD40	313	353	4.69e-5	SMART
WD40	356	394	2.22e0	SMART
WD40	397	436	1.72e0	SMART
WD40	505	546	1.7e2	SMART
WD40	552	592	4.55e-3	SMART
low complexity region	613	625	N/A	INTRINSIC
Pfam:HELP	653	715	1.9e-22	PFAM
WD40	716	757	9.24e-1	SMART
WD40	760	802	6.53e-4	SMART
WD40	805	844	2.98e-1	SMART
WD40	856	891	8.52e1	SMART
WD40	892	929	2.09e-2	SMART
WD40	986	1026	1.18e-1	SMART
WD40	1032	1068	3.44e0	SMART
WD40	1071	1111	2.58e-1	SMART
WD40	1180	1221	9.24e-1	SMART
WD40	1227	1267	3.85e-1	SMART
low complexity region	1280	1291	N/A	INTRINSIC
Pfam:HELP	1329	1402	5e-15	PFAM
WD40	1404	1447	2.66e0	SMART
WD40	1450	1492	1.85e0	SMART
WD40	1495	1534	2.97e0	SMART
WD40	1543	1582	7.1e1	SMART
WD40	1584	1629	9.51e1	SMART
WD40	1675	1715	3.05e-4	SMART
WD40	1718	1758	8.84e1	SMART
WD40	1759	1798	7.16e-1	SMART
WD40	1869	1910	1.53e1	SMART
WD40	1916	1956	4.62e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000060992
AA Change: L150*

SMART Domains

Protein: ENSMUSP00000053754
Gene: ENSMUSG00000020458
AA Change: L150*

Domain	Start	End	E-Value	Type
Pfam:Reticulon	12	182	7.4e-59	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000078830
AA Change: L307*

SMART Domains

Protein: ENSMUSP00000077875
Gene: ENSMUSG00000020458
AA Change: L307*

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 null
Transcript: ENSMUST00000102841
AA Change: L997*

SMART Domains

Protein: ENSMUSP00000099905
Gene: ENSMUSG00000020458
AA Change: L997*

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 null
Transcript: ENSMUST00000102842
AA Change: L326*

SMART Domains

Protein: ENSMUSP00000099906
Gene: ENSMUSG00000020458
AA Change: L326*

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

probably null
Transcript: ENSMUST00000102843
AA Change: L1113*

SMART Domains

Protein: ENSMUSP00000099907
Gene: ENSMUSG00000020458
AA Change: L1113*

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 null
Transcript: ENSMUST00000170731
AA Change: L307*

SMART Domains

Protein: ENSMUSP00000126413
Gene: ENSMUSG00000020458
AA Change: L307*

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,828		probably null	Het
3425401B19Rik	A	T	14: 32,659,840	S1389R	probably benign	Het
Abca9	A	T	11: 110,154,417	C363*	probably null	Het
Actbl2	T	A	13: 111,255,411	N93K	probably damaging	Het
Adamtsl3	T	C	7: 82,573,989	Y993H	probably damaging	Het
Adgrg1	G	A	8: 95,012,882	W653*	probably null	Het
Akap13	T	A	7: 75,610,328	V97D	probably benign	Het
C130026I21Rik	T	A	1: 85,212,474		probably null	Het
Cacna1d	T	A	14: 30,123,439	D613V	probably damaging	Het
Col10a1	C	A	10: 34,394,218	P62H	unknown	Het
Cpb2	A	T	14: 75,275,040	N298Y	probably damaging	Het
Ddc	A	G	11: 11,839,396		probably null	Het
Ddx6	T	C	9: 44,630,142		probably null	Het
Epb42	T	G	2: 121,034,435	K58N	probably benign	Het
Eps8	T	A	6: 137,499,587	I605L	probably benign	Het
Eps8l1	T	C	7: 4,472,122	L304P	probably damaging	Het
Erbb4	T	A	1: 68,075,499	I929F	probably damaging	Het
Erc2	A	T	14: 27,898,594	N393I	probably damaging	Het
Fbxw25	C	T	9: 109,650,119	D355N		Het
Ffar2	T	C	7: 30,819,258	K286E	probably benign	Het
Gabrd	A	G	4: 155,388,932		probably null	Het
Ganc	G	A	2: 120,436,668	W488*	probably null	Het
Gm5724	C	T	6: 141,713,193		probably null	Het
Ifi207	T	A	1: 173,730,132	M347L	unknown	Het
Kat6b	A	T	14: 21,660,841	I619F	probably damaging	Het
Kif26a	A	G	12: 112,178,147	R1612G	possibly damaging	Het
Kifc3	A	G	8: 95,110,692		probably null	Het
Krt39	A	T	11: 99,521,031	C76*	probably null	Het
Lcmt1	G	T	7: 123,401,495	R84L	probably benign	Het
Lrit1	A	G	14: 37,061,780	Y355C	probably benign	Het
Mad2l1	C	A	6: 66,535,413		probably null	Het
Med23	C	T	10: 24,902,448	T870M	probably damaging	Het
Mrpl2	A	G	17: 46,648,591		probably null	Het
Mtmr6	A	G	14: 60,300,445	D593G	probably benign	Het
Myo15b	G	A	11: 115,861,340	V683M		Het
Neb	T	A	2: 52,235,488	M506L		Het
Olfr103	T	C	17: 37,336,578	Y218C	probably benign	Het
Olfr103	A	G	17: 37,337,055	F59S	probably damaging	Het
Olfr1154	G	A	2: 87,903,193	T161I	probably benign	Het
Olfr434	T	A	6: 43,217,388	H158Q	possibly damaging	Het
Pdzd8	A	G	19: 59,327,863	F294L	probably damaging	Het
Rabgap1	G	A	2: 37,487,532	S347N	possibly damaging	Het
Rasgrf2	T	C	13: 91,896,082	T350A		Het
Rbp3	A	T	14: 33,954,158	H21L	probably benign	Het
Rp1	C	A	1: 4,142,658	V1069F	unknown	Het
Ryr3	A	G	2: 112,775,695	F2407L	probably damaging	Het
Sept2	T	A	1: 93,497,444	D107E	probably damaging	Het
Sept4	A	G	11: 87,579,008	T7A	probably benign	Het
Slc34a3	T	A	2: 25,232,225	I123F	probably damaging	Het
Slc9a4	T	C	1: 40,600,776	Y243H	probably damaging	Het
Slco1a1	T	A	6: 141,943,388	E66V	probably damaging	Het
Spata33	A	G	8: 123,213,252	R68G	unknown	Het
Spta1	G	A	1: 174,202,451	D928N	probably damaging	Het
St8sia5	A	G	18: 77,254,550	S319G	probably benign	Het
Tmem208	A	G	8: 105,328,833	D149G	possibly damaging	Het
Trank1	A	T	9: 111,364,103	I583F	probably damaging	Het
Trio	C	T	15: 27,763,994	V2015M	probably damaging	Het
Tsc22d1	C	T	14: 76,416,701	Q207*	probably null	Het
Tshr	A	G	12: 91,505,305	D143G	probably benign	Het
Txlna	C	T	4: 129,632,157	R299H	probably damaging	Het
Ush2a	A	T	1: 188,444,592	T1318S	possibly damaging	Het
Utp14b	A	G	1: 78,664,943	K186R	probably damaging	Het
Vars2	C	T	17: 35,658,158	A884T	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp775	A	G	6: 48,619,249	Q19R	possibly damaging	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
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
RF006:Rtn4	UTSW	11	29706919	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- GGCAGTTCTGCTCTATCATGG -3'
(R):5'- GCACCTAAGGCAGCTGTTAG -3'

Sequencing Primer
(F):5'- AGTGAATCAACTCCCATTTTTGGTC -3'
(R):5'- GCTGTTAGCTGGAGTAGTCTTC -3'

Posted On

2019-11-26