Mutagenetix > Incidental Mutation

Incidental Mutation 'R1960:Rtn4'

318060

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

039974-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.687) question?

Stock #

R1960 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29642947-29694331 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29686464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 273 (L273P)

Ref Sequence

ENSEMBL: ENSMUSP00000126413 (fasta)

Gene Model

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

AlphaFold

Q99P72

Predicted Effect

probably damaging
Transcript: ENSMUST00000060992
AA Change: L116P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053754
Gene: ENSMUSG00000020458
AA Change: L116P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000078830
AA Change: L273P

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

SMART Domains

Protein: ENSMUSP00000077875
Gene: ENSMUSG00000020458
AA Change: L273P

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: L963P

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

SMART Domains

Protein: ENSMUSP00000099905
Gene: ENSMUSG00000020458
AA Change: L963P

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 damaging
Transcript: ENSMUST00000102842
AA Change: L292P

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

SMART Domains

Protein: ENSMUSP00000099906
Gene: ENSMUSG00000020458
AA Change: L292P

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: L1079P

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

SMART Domains

Protein: ENSMUSP00000099907
Gene: ENSMUSG00000020458
AA Change: L1079P

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

noncoding transcript
Transcript: ENSMUST00000125735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126162

Predicted Effect

probably damaging
Transcript: ENSMUST00000170731
AA Change: L273P

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

SMART Domains

Protein: ENSMUSP00000126413
Gene: ENSMUSG00000020458
AA Change: L273P

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

noncoding transcript
Transcript: ENSMUST00000141719

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156217

Meta Mutation Damage Score

0.9714

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (95/95)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	C	T	3: 145,643,976 (GRCm39)	P55S	probably damaging	Het
Adgre4	T	C	17: 56,098,497 (GRCm39)	S136P	probably benign	Het
Aoc1l1	C	T	6: 48,952,687 (GRCm39)	T204I	probably damaging	Het
Arap1	C	A	7: 101,022,222 (GRCm39)	A8E	probably damaging	Het
Arid1a	A	T	4: 133,480,401 (GRCm39)	H174Q	possibly damaging	Het
Btbd2	A	G	10: 80,480,539 (GRCm39)	I358T	probably benign	Het
Camkk2	G	A	5: 122,875,575 (GRCm39)	R492*	probably null	Het
Capn3	T	C	2: 120,294,421 (GRCm39)	V23A	probably benign	Het
Carm1	T	G	9: 21,491,606 (GRCm39)	V225G	probably benign	Het
Ccdc113	T	A	8: 96,267,459 (GRCm39)	N141K	probably benign	Het
Ccdc60	C	A	5: 116,284,243 (GRCm39)	M298I	probably benign	Het
Celsr3	C	T	9: 108,723,016 (GRCm39)	P2801L	probably benign	Het
Clec4n	T	A	6: 123,207,505 (GRCm39)	V23E	probably damaging	Het
Cmtr2	T	G	8: 110,948,382 (GRCm39)	L231V	probably damaging	Het
Csrnp3	T	G	2: 65,853,363 (GRCm39)	V585G	probably null	Het
Ctnnd2	T	C	15: 30,647,257 (GRCm39)	S318P	probably damaging	Het
Cubn	A	T	2: 13,344,828 (GRCm39)		probably null	Het
Dgkd	C	A	1: 87,857,549 (GRCm39)	P754T	possibly damaging	Het
Dnah7a	A	G	1: 53,724,142 (GRCm39)	S108P	probably benign	Het
Dnajc24	A	G	2: 105,832,268 (GRCm39)		probably benign	Het
Dner	A	T	1: 84,423,177 (GRCm39)	S475R	probably damaging	Het
Dtnb	T	C	12: 3,831,190 (GRCm39)	L630P	probably benign	Het
Dysf	T	C	6: 84,050,885 (GRCm39)	F411L	probably benign	Het
Fbh1	G	A	2: 11,762,339 (GRCm39)	A566V	probably damaging	Het
Fbxw19	G	T	9: 109,315,004 (GRCm39)	T186K	probably benign	Het
Flacc1	A	T	1: 58,698,437 (GRCm39)	V327D	possibly damaging	Het
Gm4825	A	G	15: 85,395,245 (GRCm39)		noncoding transcript	Het
Grhl2	T	A	15: 37,336,558 (GRCm39)	V54D	probably damaging	Het
Hmcn1	T	C	1: 150,551,742 (GRCm39)	I2621V	probably benign	Het
Hmcn1	T	A	1: 150,553,127 (GRCm39)	E2521V	possibly damaging	Het
Kcng1	A	G	2: 168,104,904 (GRCm39)	V314A	probably benign	Het
Kif13a	G	A	13: 47,018,314 (GRCm39)		probably benign	Het
Kif21a	G	A	15: 90,855,051 (GRCm39)	A703V	probably damaging	Het
Kifc1	A	G	17: 34,103,561 (GRCm39)		probably null	Het
Klk13	T	A	7: 43,370,431 (GRCm39)	N31K	possibly damaging	Het
Klri1	T	A	6: 129,674,347 (GRCm39)	H221L	probably benign	Het
Ltbp4	G	A	7: 27,028,443 (GRCm39)	P273L	unknown	Het
Med16	T	C	10: 79,742,929 (GRCm39)	H14R	possibly damaging	Het
Mpeg1	G	A	19: 12,440,275 (GRCm39)	V578M	probably damaging	Het
Mrgpra2a	T	A	7: 47,076,983 (GRCm39)	I92F	probably benign	Het
Muc5b	T	C	7: 141,416,374 (GRCm39)	C3107R	possibly damaging	Het
Myo5a	T	A	9: 75,055,139 (GRCm39)	F441I	probably damaging	Het
Ndst4	T	A	3: 125,232,331 (GRCm39)	L300*	probably null	Het
Nlgn2	G	T	11: 69,718,136 (GRCm39)	D356E	probably damaging	Het
Nlrp2	T	C	7: 5,330,737 (GRCm39)	E553G	probably damaging	Het
Oas1f	G	A	5: 120,994,502 (GRCm39)	C341Y	possibly damaging	Het
Olfm5	A	T	7: 103,809,619 (GRCm39)	C111S	possibly damaging	Het
Oplah	G	A	15: 76,181,664 (GRCm39)	T1119I	probably damaging	Het
Or2ag15	T	C	7: 106,340,601 (GRCm39)	E180G	probably damaging	Het
Or5d46	T	C	2: 88,170,545 (GRCm39)	L212P	probably damaging	Het
Or6c74	C	T	10: 129,870,187 (GRCm39)	Q231*	probably null	Het
Or6f2	A	T	7: 139,756,596 (GRCm39)	I188L	probably benign	Het
Or8b12c	A	G	9: 37,715,242 (GRCm39)	I12V	probably benign	Het
Or8g51	T	A	9: 38,609,500 (GRCm39)	H58L	probably benign	Het
Pde10a	T	C	17: 9,161,750 (GRCm39)	I477T	possibly damaging	Het
Pde4b	A	G	4: 102,454,657 (GRCm39)	E108G	probably damaging	Het
Pdgfrb	A	T	18: 61,198,855 (GRCm39)	T338S	probably benign	Het
Pgghg	A	G	7: 140,523,260 (GRCm39)	M180V	probably benign	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pot1b	A	T	17: 55,969,531 (GRCm39)	Y546N	probably damaging	Het
Rangap1	T	C	15: 81,590,704 (GRCm39)	T463A	probably benign	Het
Rap1gds1	T	C	3: 138,756,317 (GRCm39)	I13V	probably null	Het
Rbak	A	T	5: 143,160,437 (GRCm39)	Y205*	probably null	Het
Reg3b	A	T	6: 78,348,797 (GRCm39)	K31M	probably damaging	Het
Rfpl4	A	T	7: 5,118,533 (GRCm39)	Y12*	probably null	Het
Rnase6	A	G	14: 51,367,889 (GRCm39)	N94D	possibly damaging	Het
Ryr3	A	C	2: 112,624,812 (GRCm39)	F2203V	probably damaging	Het
Sae1	A	T	7: 16,102,490 (GRCm39)	D161E	possibly damaging	Het
Sema5a	T	C	15: 32,562,877 (GRCm39)	F296S	possibly damaging	Het
Sh3rf1	C	A	8: 61,837,897 (GRCm39)	P814Q	probably damaging	Het
Slc22a29	C	A	19: 8,146,557 (GRCm39)	R415M	probably benign	Het
Slc25a25	C	T	2: 32,310,663 (GRCm39)		probably null	Het
Slco4c1	T	A	1: 96,795,654 (GRCm39)	M135L	probably benign	Het
Slfn1	A	G	11: 83,012,579 (GRCm39)	I232V	possibly damaging	Het
Slitrk1	T	A	14: 109,149,622 (GRCm39)	N363I	probably damaging	Het
Srr	A	G	11: 74,799,542 (GRCm39)	V311A	probably damaging	Het
Tasor	T	C	14: 27,160,621 (GRCm39)	S128P	probably damaging	Het
Tasor	C	T	14: 27,201,746 (GRCm39)	H1419Y	possibly damaging	Het
Tenm1	T	C	X: 41,916,078 (GRCm39)	D402G	probably benign	Het
Topors	T	C	4: 40,261,044 (GRCm39)	R747G	unknown	Het
Trank1	A	T	9: 111,220,696 (GRCm39)	I2478F	probably damaging	Het
Trim69	A	G	2: 121,998,165 (GRCm39)	N46D	probably benign	Het
Trpm1	T	A	7: 63,879,978 (GRCm39)	L661Q	probably damaging	Het
Ttbk1	A	C	17: 46,791,150 (GRCm39)	F45V	probably damaging	Het
Ttn	T	C	2: 76,644,649 (GRCm39)	K4708R	probably damaging	Het
Unkl	A	G	17: 25,428,619 (GRCm39)		probably benign	Het
Uros	A	T	7: 133,288,735 (GRCm39)	N257K	probably benign	Het
Usp25	A	G	16: 76,873,259 (GRCm39)	Y439C	probably damaging	Het
Vgf	A	G	5: 137,061,029 (GRCm39)		probably benign	Het
Vmn2r8	A	T	5: 108,947,152 (GRCm39)	D533E	probably damaging	Het
Vps13a	A	T	19: 16,702,995 (GRCm39)	Y653N	probably damaging	Het
Zfp358	T	C	8: 3,545,742 (GRCm39)	V135A	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
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
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'- AGATCTGTGATTGCTGATTGACATG -3'
(R):5'- TCCCTGAAGGAGAAAAGTGTCAAAC -3'

Sequencing Primer
(F):5'- CTGATTGACATGTGAGAATCAGTGTC -3'
(R):5'- AAGTGTCAAACTATAGTTCTCACAC -3'

Posted On

2015-05-19