Mutagenetix > Incidental Mutation

Incidental Mutation 'R7743:Rtn4'

596679

Institutional Source

Beutler Lab

Gene Symbol

Rtn4

Ensembl Gene

ENSMUSG00000020458

Gene Name

reticulon 4

Synonyms

1110020G17Rik, C130026I10Rik, Nogo-A, NgA, NOGO, Nogo-B

MMRRC Submission

045799-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.763) question?

Stock #

R7743 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29642947-29694331 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 29683790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1027 (Y1027*)

Ref Sequence

ENSEMBL: ENSMUSP00000099907 (fasta)

Gene Model

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

AlphaFold

Q99P72

Predicted Effect

probably null
Transcript: ENSMUST00000060992
AA Change: Y64*

SMART Domains

Protein: ENSMUSP00000053754
Gene: ENSMUSG00000020458
AA Change: Y64*

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

Predicted Effect

probably null
Transcript: ENSMUST00000078830
AA Change: Y221*

SMART Domains

Protein: ENSMUSP00000077875
Gene: ENSMUSG00000020458
AA Change: Y221*

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: Y911*

SMART Domains

Protein: ENSMUSP00000099905
Gene: ENSMUSG00000020458
AA Change: Y911*

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: Y240*

SMART Domains

Protein: ENSMUSP00000099906
Gene: ENSMUSG00000020458
AA Change: Y240*

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: Y1027*

SMART Domains

Protein: ENSMUSP00000099907
Gene: ENSMUSG00000020458
AA Change: Y1027*

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: Y221*

SMART Domains

Protein: ENSMUSP00000126413
Gene: ENSMUSG00000020458
AA Change: Y221*

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

97% (77/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,774,516 (GRCm39)	E1235G	probably damaging	Het
Abtb3	A	T	10: 85,460,813 (GRCm39)	I569F	possibly damaging	Het
Adam6a	A	G	12: 113,508,152 (GRCm39)	D175G	probably benign	Het
Adgrf4	A	T	17: 42,983,453 (GRCm39)	C76*	probably null	Het
Agbl3	C	T	6: 34,823,765 (GRCm39)	T815I	probably damaging	Het
Ahnak2	A	G	12: 112,748,383 (GRCm39)	V488A	not run	Het
Akip1	T	A	7: 109,311,035 (GRCm39)	S192T	probably benign	Het
Apc2	G	A	10: 80,140,749 (GRCm39)	M201I	probably damaging	Het
Arel1	G	T	12: 84,987,043 (GRCm39)	N124K	probably damaging	Het
Atp10a	A	T	7: 58,453,457 (GRCm39)	H845L	probably damaging	Het
Atp2a2	A	G	5: 122,599,634 (GRCm39)	Y586H	probably benign	Het
BC051019	A	G	7: 109,315,266 (GRCm39)	Y330H	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Chek2	T	G	5: 110,987,916 (GRCm39)		probably null	Het
Cldn14	A	G	16: 93,716,615 (GRCm39)	L77S	probably damaging	Het
Cox15	T	C	19: 43,728,380 (GRCm39)	K298E	possibly damaging	Het
Cpt1b	G	T	15: 89,305,607 (GRCm39)	D369E	probably benign	Het
Cpxm1	T	C	2: 130,235,342 (GRCm39)	N550S	probably benign	Het
Csdc2	A	G	15: 81,833,399 (GRCm39)	E132G	possibly damaging	Het
Cyb5d2	A	T	11: 72,669,702 (GRCm39)	C219S	probably damaging	Het
Erbb4	T	C	1: 68,367,278 (GRCm39)	T480A	probably benign	Het
Fndc1	G	A	17: 7,983,969 (GRCm39)	T1319I	unknown	Het
Gm5773	T	G	3: 93,680,565 (GRCm39)	V79G	probably damaging	Het
Hsf2	G	A	10: 57,387,431 (GRCm39)		probably null	Het
Itgb2l	T	C	16: 96,238,608 (GRCm39)	T64A	probably damaging	Het
Kifc5b	T	C	17: 27,143,176 (GRCm39)	V316A	probably damaging	Het
Ktn1	A	G	14: 47,907,750 (GRCm39)	D279G	probably damaging	Het
Lonrf1	T	C	8: 36,716,206 (GRCm39)	E143G	possibly damaging	Het
Mroh9	C	T	1: 162,852,122 (GRCm39)	E856K	probably benign	Het
Muc16	T	C	9: 18,568,773 (GRCm39)	T1249A	unknown	Het
Myh6	G	A	14: 55,194,607 (GRCm39)	R721W	probably damaging	Het
Myo6	A	T	9: 80,183,611 (GRCm39)	I669F	unknown	Het
N4bp2	A	G	5: 65,965,802 (GRCm39)	T1284A	probably damaging	Het
Npr3	A	G	15: 11,905,724 (GRCm39)	M1T	probably null	Het
Obscn	C	T	11: 58,990,603 (GRCm39)	V1657M	probably damaging	Het
Olfr908	A	G	9: 38,427,624 (GRCm39)	T99A	possibly damaging	Het
Or52a20	A	G	7: 103,366,560 (GRCm39)	E253G	possibly damaging	Het
Or52p2	A	T	7: 102,237,638 (GRCm39)	F104Y	probably benign	Het
Otud6b	C	A	4: 14,818,389 (GRCm39)	A171S	possibly damaging	Het
Pdcd2l	A	C	7: 33,892,256 (GRCm39)	D204E	probably benign	Het
Pdia2	T	C	17: 26,417,842 (GRCm39)	S56G	probably benign	Het
Plcxd1	G	A	5: 110,250,369 (GRCm39)	E237K	possibly damaging	Het
Plekha5	A	T	6: 140,501,712 (GRCm39)	R633S	probably damaging	Het
Pnpla6	T	C	8: 3,586,594 (GRCm39)	F937L	possibly damaging	Het
Pth2	A	T	7: 44,830,733 (GRCm39)	M6L	probably benign	Het
Ptprd	T	A	4: 76,004,326 (GRCm39)	K143I	probably damaging	Het
Rhbdf2	T	C	11: 116,492,427 (GRCm39)	D487G	probably benign	Het
Rhbdf2	A	T	11: 116,494,775 (GRCm39)	D300E	probably benign	Het
Rock2	G	A	12: 17,026,048 (GRCm39)	V1265I	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGAGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Rxfp3	A	G	15: 11,037,216 (GRCm39)	L52P	probably damaging	Het
Sel1l3	A	G	5: 53,293,227 (GRCm39)	Y830H	probably benign	Het
Serpinb3d	C	T	1: 107,007,088 (GRCm39)	V207I	probably damaging	Het
Sipa1l2	T	C	8: 126,190,972 (GRCm39)	E1006G	probably damaging	Het
Slc22a19	C	T	19: 7,661,201 (GRCm39)	M324I	possibly damaging	Het
Slc37a1	T	A	17: 31,535,159 (GRCm39)	F106I	probably damaging	Het
Snx14	A	T	9: 88,280,402 (GRCm39)	S518T	probably benign	Het
Sp2	T	C	11: 96,851,935 (GRCm39)	T330A	probably damaging	Het
Spata13	A	T	14: 60,993,698 (GRCm39)	H1050L	probably damaging	Het
Sptssa	A	C	12: 54,703,201 (GRCm39)	V23G	possibly damaging	Het
Syt3	A	T	7: 44,042,091 (GRCm39)	I317F	probably damaging	Het
Tars1	A	C	15: 11,399,458 (GRCm39)		probably null	Het
Tead3	T	A	17: 28,551,801 (GRCm39)	T431S	probably benign	Het
Tiam2	G	A	17: 3,568,431 (GRCm39)	E1526K	possibly damaging	Het
Tnni3	G	A	7: 4,524,891 (GRCm39)	P12L	probably benign	Het
Topaz1	A	G	9: 122,614,201 (GRCm39)	H1207R	probably benign	Het
Trdn	G	T	10: 33,133,058 (GRCm39)	E107*	probably null	Het
Trp63	A	G	16: 25,701,375 (GRCm39)	N483S	probably benign	Het
Trpm4	A	G	7: 44,957,762 (GRCm39)	S1009P	probably benign	Het
Trpm6	T	C	19: 18,804,772 (GRCm39)	V908A	probably benign	Het
Tsen34	A	T	7: 3,697,601 (GRCm39)	M25L	possibly damaging	Het
Ttn	T	C	2: 76,781,827 (GRCm39)	E1073G	unknown	Het
Uaca	A	T	9: 60,783,677 (GRCm39)	I1380F	probably damaging	Het
Ubr3	A	G	2: 69,774,793 (GRCm39)	T539A	probably benign	Het
Ugt1a5	T	A	1: 88,094,117 (GRCm39)	M115K	probably benign	Het
Unc45b	A	T	11: 82,813,726 (GRCm39)	I378F	probably damaging	Het
Unk	G	A	11: 115,940,262 (GRCm39)	R205Q	possibly damaging	Het
Ush2a	T	A	1: 188,542,376 (GRCm39)	L3314Q	probably benign	Het
Vezt	A	G	10: 93,816,286 (GRCm39)	L475P	probably damaging	Het
Vmn2r115	C	T	17: 23,564,772 (GRCm39)	Q220*	probably null	Het
Yap1	T	C	9: 7,962,379 (GRCm39)	Q223R	probably benign	Het
Zdhhc7	G	A	8: 120,813,467 (GRCm39)	T114M	possibly damaging	Het
Zwilch	A	C	9: 64,060,217 (GRCm39)	C374G	probably damaging	Het

Other mutations in Rtn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01784:Rtn4	APN	11	29,657,291 (GRCm39)	missense	probably damaging	1.00
IGL02187:Rtn4	APN	11	29,658,291 (GRCm39)	missense	possibly damaging	0.78
IGL02475:Rtn4	APN	11	29,683,801 (GRCm39)	missense	probably damaging	1.00
IGL02751:Rtn4	APN	11	29,656,409 (GRCm39)	critical splice acceptor site	probably null
R0063:Rtn4	UTSW	11	29,655,527 (GRCm39)	intron	probably benign
R0110:Rtn4	UTSW	11	29,683,849 (GRCm39)	splice site	probably benign
R0510:Rtn4	UTSW	11	29,683,849 (GRCm39)	splice site	probably benign
R0653:Rtn4	UTSW	11	29,657,256 (GRCm39)	missense	probably damaging	1.00
R0658:Rtn4	UTSW	11	29,656,475 (GRCm39)	missense	probably damaging	1.00
R1353:Rtn4	UTSW	11	29,657,595 (GRCm39)	missense	probably damaging	1.00
R1384:Rtn4	UTSW	11	29,686,437 (GRCm39)	missense	probably damaging	1.00
R1406:Rtn4	UTSW	11	29,658,236 (GRCm39)	missense	probably benign	0.21
R1406:Rtn4	UTSW	11	29,658,236 (GRCm39)	missense	probably benign	0.21
R1873:Rtn4	UTSW	11	29,686,437 (GRCm39)	missense	probably damaging	1.00
R1960:Rtn4	UTSW	11	29,686,464 (GRCm39)	missense	probably damaging	1.00
R1980:Rtn4	UTSW	11	29,658,634 (GRCm39)	missense	probably benign	0.00
R2319:Rtn4	UTSW	11	29,657,154 (GRCm39)	missense	probably benign	0.06
R2888:Rtn4	UTSW	11	29,643,687 (GRCm39)	missense	probably damaging	0.98
R3150:Rtn4	UTSW	11	29,643,308 (GRCm39)	small deletion	probably benign
R3403:Rtn4	UTSW	11	29,657,690 (GRCm39)	missense	probably benign	0.12
R3974:Rtn4	UTSW	11	29,657,505 (GRCm39)	missense	probably damaging	1.00
R3977:Rtn4	UTSW	11	29,643,819 (GRCm39)	missense	probably benign	0.01
R4223:Rtn4	UTSW	11	29,656,856 (GRCm39)	missense	probably benign	0.02
R4725:Rtn4	UTSW	11	29,658,362 (GRCm39)	missense	probably damaging	1.00
R4801:Rtn4	UTSW	11	29,658,660 (GRCm39)	missense	probably benign	0.21
R4802:Rtn4	UTSW	11	29,658,660 (GRCm39)	missense	probably benign	0.21
R4974:Rtn4	UTSW	11	29,690,994 (GRCm39)	missense	probably damaging	1.00
R4983:Rtn4	UTSW	11	29,657,217 (GRCm39)	missense	probably benign	0.43
R5292:Rtn4	UTSW	11	29,657,924 (GRCm39)	missense	probably benign	0.39
R5332:Rtn4	UTSW	11	29,683,645 (GRCm39)	missense	probably damaging	1.00
R5551:Rtn4	UTSW	11	29,691,011 (GRCm39)	missense	probably damaging	1.00
R5604:Rtn4	UTSW	11	29,658,140 (GRCm39)	missense	probably damaging	0.97
R6046:Rtn4	UTSW	11	29,658,023 (GRCm39)	missense	probably damaging	1.00
R6928:Rtn4	UTSW	11	29,656,791 (GRCm39)	missense	possibly damaging	0.92
R7386:Rtn4	UTSW	11	29,657,772 (GRCm39)	missense	probably damaging	1.00
R7784:Rtn4	UTSW	11	29,691,048 (GRCm39)	nonsense	probably null
R7832:Rtn4	UTSW	11	29,691,048 (GRCm39)	nonsense	probably null
R7846:Rtn4	UTSW	11	29,643,274 (GRCm39)	missense	unknown
R7896:Rtn4	UTSW	11	29,655,536 (GRCm39)	missense	probably damaging	1.00
R8297:Rtn4	UTSW	11	29,655,536 (GRCm39)	missense	probably damaging	1.00
R8420:Rtn4	UTSW	11	29,657,300 (GRCm39)	missense	probably damaging	0.99
R8724:Rtn4	UTSW	11	29,643,316 (GRCm39)	missense	unknown
R8823:Rtn4	UTSW	11	29,656,609 (GRCm39)	missense	probably benign	0.05
R8872:Rtn4	UTSW	11	29,658,633 (GRCm39)	missense	probably benign	0.17
R9196:Rtn4	UTSW	11	29,658,471 (GRCm39)	missense	probably benign	0.00
R9223:Rtn4	UTSW	11	29,656,778 (GRCm39)	missense	probably benign	0.00
R9384:Rtn4	UTSW	11	29,658,471 (GRCm39)	missense	probably benign	0.00
R9493:Rtn4	UTSW	11	29,691,011 (GRCm39)	missense	probably damaging	1.00
R9655:Rtn4	UTSW	11	29,657,504 (GRCm39)	missense	probably damaging	1.00
RF006:Rtn4	UTSW	11	29,656,919 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- CTCCGTGAAGAACATGTAAATGTG -3'
(R):5'- AGCCCAGTCTTTTCTACCATAAG -3'

Sequencing Primer
(F):5'- CATGTAAATGTGCTAAATCCAAATGG -3'
(R):5'- CTCAAAGGCAGATATGTTCTTGATAG -3'

Posted On

2019-11-26