Mutagenetix > Incidental Mutation

Incidental Mutation 'R9655:Rtn4'

735476

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.763) question?

Stock #

R9655 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29642947-29694331 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29657504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 553 (T553A)

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 damaging
Transcript: ENSMUST00000102841
AA Change: T437A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099905
Gene: ENSMUSG00000020458
AA Change: T437A

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

probably damaging
Transcript: ENSMUST00000102843
AA Change: T553A

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

SMART Domains

Protein: ENSMUSP00000099907
Gene: ENSMUSG00000020458
AA Change: T553A

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.7%

Validation Efficiency

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
4933402N03Rik	T	A	7: 130,740,695 (GRCm39)	I174F	possibly damaging	Het
Ada	C	A	2: 163,574,270 (GRCm39)	V129F	probably damaging	Het
Adgrl4	G	T	3: 151,248,450 (GRCm39)	M707I	probably damaging	Het
Ahcyl	A	T	16: 45,974,564 (GRCm39)	I271N	probably damaging	Het
Arrb2	A	G	11: 70,331,073 (GRCm39)	Q419R	probably null	Het
Atad2	A	T	15: 57,998,303 (GRCm39)	L23Q	probably damaging	Het
Btbd2	A	T	10: 80,492,045 (GRCm39)	F107Y	probably benign	Het
C7	T	A	15: 5,041,464 (GRCm39)	T481S	probably damaging	Het
Capn10	T	A	1: 92,867,111 (GRCm39)	W114R	probably damaging	Het
Ccdc121	C	T	5: 31,644,976 (GRCm39)	T243I	probably benign	Het
Cdc16	T	A	8: 13,809,153 (GRCm39)	D39E	possibly damaging	Het
Cfap74	A	T	4: 155,522,665 (GRCm39)	I684F		Het
Cyp2c70	T	A	19: 40,149,121 (GRCm39)	N342Y	possibly damaging	Het
Dnah17	G	A	11: 117,971,649 (GRCm39)	T2128I	possibly damaging	Het
Dnah5	A	G	15: 28,242,900 (GRCm39)	N545S	probably benign	Het
Dnmt3c	A	G	2: 153,561,914 (GRCm39)	N539S	probably damaging	Het
Elfn1	A	G	5: 139,958,964 (GRCm39)	E656G	possibly damaging	Het
Exd1	A	T	2: 119,350,855 (GRCm39)	C469S	probably damaging	Het
F5	A	T	1: 164,021,730 (GRCm39)	I1402F	probably benign	Het
Fam186a	A	G	15: 99,840,973 (GRCm39)	L1757P	probably damaging	Het
Fbxo42	A	T	4: 140,895,171 (GRCm39)	R45W	probably damaging	Het
Fer1l5	T	C	1: 36,460,696 (GRCm39)	V1978A	probably benign	Het
Fpr1	T	A	17: 18,097,618 (GRCm39)	I124F	probably damaging	Het
Fry	A	T	5: 150,362,251 (GRCm39)	D2173V	possibly damaging	Het
Gabbr2	G	T	4: 46,815,684 (GRCm39)	T228K	possibly damaging	Het
Galnt9	A	T	5: 110,762,104 (GRCm39)	Y414F	probably damaging	Het
Gask1a	T	A	9: 121,794,170 (GRCm39)	L108Q	probably benign	Het
Ggt5	A	T	10: 75,444,635 (GRCm39)	M318L	probably benign	Het
Glod4	A	C	11: 76,125,292 (GRCm39)	S156A	probably benign	Het
Gm5431	A	T	11: 48,785,799 (GRCm39)	M192K	probably benign	Het
Golga5	C	T	12: 102,446,008 (GRCm39)	S421L	possibly damaging	Het
Gpr18	T	C	14: 122,149,992 (GRCm39)	D11G	probably benign	Het
Igf2bp3	C	T	6: 49,064,338 (GRCm39)	V560I	probably benign	Het
Igfals	A	G	17: 25,099,665 (GRCm39)	N252S	probably damaging	Het
Ighv8-5	C	T	12: 115,031,416 (GRCm39)	C41Y	probably damaging	Het
Iqgap3	T	A	3: 88,016,728 (GRCm39)	V1070D	possibly damaging	Het
Kdr	G	A	5: 76,122,488 (GRCm39)	A479V	probably benign	Het
Kidins220	T	C	12: 25,047,295 (GRCm39)	L247P	probably damaging	Het
Kmt5a	A	G	5: 124,589,393 (GRCm39)	Y197C	probably damaging	Het
Krt33a	A	C	11: 99,906,624 (GRCm39)		probably null	Het
Mageb3	A	G	2: 121,785,649 (GRCm39)	S18P	unknown	Het
Mast1	T	A	8: 85,650,660 (GRCm39)	Y387F	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Med17	C	T	9: 15,176,719 (GRCm39)	V503M	possibly damaging	Het
Mpp3	A	G	11: 101,899,481 (GRCm39)	C347R	probably benign	Het
Mtr	A	G	13: 12,203,030 (GRCm39)	L1191P	probably damaging	Het
Mybphl	A	T	3: 108,282,099 (GRCm39)	I110F	probably damaging	Het
Nkx2-1	T	A	12: 56,581,802 (GRCm39)	D15V	probably damaging	Het
Nwd2	G	A	5: 63,964,568 (GRCm39)	W1384*	probably null	Het
Onecut1	A	G	9: 74,770,330 (GRCm39)	H251R	possibly damaging	Het
Or10ak8	T	A	4: 118,773,804 (GRCm39)	N287Y	probably damaging	Het
Or13f5	C	T	4: 52,825,526 (GRCm39)	T43I	probably benign	Het
Or51a6	A	G	7: 102,604,319 (GRCm39)	F163S	probably damaging	Het
Or8b37	A	T	9: 37,959,387 (GRCm39)	I290L	probably benign	Het
Palmd	T	C	3: 116,716,840 (GRCm39)	*552W	probably null	Het
Pcdhgb2	A	G	18: 37,823,285 (GRCm39)	E92G	probably damaging	Het
Pcdhgb5	G	T	18: 37,865,122 (GRCm39)	E306*	probably null	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pex1	T	A	5: 3,655,653 (GRCm39)	L160Q	probably damaging	Het
Phxr2	A	T	10: 98,961,974 (GRCm39)	S29T	unknown	Het
Ppargc1a	A	G	5: 51,705,852 (GRCm39)		probably null	Het
Psmb11	T	C	14: 54,862,965 (GRCm39)	V61A	probably damaging	Het
Ripor2	A	T	13: 24,908,983 (GRCm39)	I1034F	possibly damaging	Het
Rnaset2b	T	A	17: 7,259,134 (GRCm39)	N133K	probably damaging	Het
Samd9l	T	A	6: 3,373,578 (GRCm39)	T1228S	probably benign	Het
Sdr42e2	A	G	7: 120,430,279 (GRCm39)	T379A	probably benign	Het
Shisal2a	C	A	4: 108,234,616 (GRCm39)	V84L	possibly damaging	Het
Slc1a1	C	T	19: 28,870,283 (GRCm39)	A94V	probably damaging	Het
Snx31	C	T	15: 36,534,582 (GRCm39)	C197Y	probably damaging	Het
Tbc1d4	A	G	14: 101,744,567 (GRCm39)	V353A	probably damaging	Het
Tbc1d9b	A	G	11: 50,059,610 (GRCm39)	D1004G	possibly damaging	Het
Tex15	T	A	8: 34,066,784 (GRCm39)	Y2071*	probably null	Het
Tnni3k	G	A	3: 154,645,410 (GRCm39)	R492*	probably null	Het
Tns2	A	G	15: 102,012,933 (GRCm39)	H7R	probably benign	Het
Top2a	G	T	11: 98,905,334 (GRCm39)	N369K	probably damaging	Het
Tpbg	A	T	9: 85,726,252 (GRCm39)	T74S	probably damaging	Het
Trpm6	A	G	19: 18,869,466 (GRCm39)	N2018D	probably benign	Het
Trub2	A	T	2: 29,669,833 (GRCm39)		probably null	Het
Vps13d	A	G	4: 144,813,305 (GRCm39)	F3324L		Het
Wdr20rt	A	T	12: 65,273,707 (GRCm39)	Q390L	probably benign	Het
Wdr49	T	A	3: 75,240,561 (GRCm39)	D436V	probably damaging	Het
Zfp111	C	T	7: 23,898,543 (GRCm39)	G357D	probably damaging	Het
Zfp668	A	G	7: 127,466,113 (GRCm39)	V357A	possibly 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
R7743:Rtn4	UTSW	11	29,683,790 (GRCm39)	nonsense	probably null
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
RF006:Rtn4	UTSW	11	29,656,919 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TCAGCAACCGAGAGTACTGC -3'
(R):5'- ACTTCTAGTGGGGATGCACTG -3'

Sequencing Primer
(F):5'- GAGTACTGCAGCAAACATTTTCCCTG -3'
(R):5'- GGGATGCACTGGGCTGC -3'

Posted On

2022-11-14