Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02217:Rtn3'

284944

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rtn3

Ensembl Gene

ENSMUSG00000024758

Gene Name

reticulon 3

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

IGL02217

Quality Score

Status

Chromosome

Chromosomal Location

7425901-7483289 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 7435084 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 794 (T794I)

Ref Sequence

ENSEMBL: ENSMUSP00000065810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025667] [ENSMUST00000065304] [ENSMUST00000088169] [ENSMUST00000088171]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025667
AA Change: T67I

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025667
Gene: ENSMUSG00000024758
AA Change: T67I

Domain	Start	End	E-Value	Type
low complexity region	4	40	N/A	INTRINSIC
Pfam:Reticulon	49	219	8.7e-58	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000065304
AA Change: T794I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065810
Gene: ENSMUSG00000024758
AA Change: T794I

Domain	Start	End	E-Value	Type
low complexity region	4	40	N/A	INTRINSIC
low complexity region	42	66	N/A	INTRINSIC
low complexity region	80	91	N/A	INTRINSIC
low complexity region	119	131	N/A	INTRINSIC
low complexity region	516	527	N/A	INTRINSIC
low complexity region	639	650	N/A	INTRINSIC
Pfam:Reticulon	776	940	9.1e-45	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088169
AA Change: T86I

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000085494
Gene: ENSMUSG00000024758
AA Change: T86I

Domain	Start	End	E-Value	Type
low complexity region	4	40	N/A	INTRINSIC
low complexity region	42	66	N/A	INTRINSIC
Pfam:Reticulon	68	238	1.1e-57	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000088171
AA Change: T775I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000085496
Gene: ENSMUSG00000024758
AA Change: T775I

Domain	Start	End	E-Value	Type
low complexity region	4	56	N/A	INTRINSIC
low complexity region	61	72	N/A	INTRINSIC
low complexity region	100	112	N/A	INTRINSIC
low complexity region	497	508	N/A	INTRINSIC
low complexity region	620	631	N/A	INTRINSIC
Pfam:Reticulon	757	927	1.8e-56	PFAM

Coding Region Coverage

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 reticulon family of highly conserved genes that are preferentially expressed in neuroendocrine tissues. This family of proteins interact with, and modulate the activity of beta-amyloid converting enzyme 1 (BACE1), and the production of amyloid-beta. An increase in the expression of any reticulon protein substantially reduces the production of amyloid-beta, suggesting that reticulon proteins are negative modulators of BACE1 in cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, and pseudogenes of this gene are located on chromosomes 4 and 12. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	C	A	18: 24,470,898		probably benign	Het
Actn1	G	A	12: 80,174,094	Q647*	probably null	Het
Adamts6	T	A	13: 104,462,365		probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cabin1	G	A	10: 75,700,047	T1389I	possibly damaging	Het
Cenpc1	A	G	5: 86,029,200		probably benign	Het
Clca4a	T	A	3: 144,961,996	T405S	possibly damaging	Het
Cntln	G	A	4: 85,100,258	V1168M	probably damaging	Het
Col18a1	A	G	10: 77,053,298	S1494P	probably damaging	Het
Cps1	A	T	1: 67,174,382	T758S	probably benign	Het
Cul3	A	T	1: 80,283,767	M247K	probably damaging	Het
Cyp3a57	A	G	5: 145,369,143		probably null	Het
Dennd4c	T	A	4: 86,813,799	C917S	probably benign	Het
Dhrs11	A	T	11: 84,822,395	Y166*	probably null	Het
Dtl	A	G	1: 191,568,314	V146A	probably damaging	Het
Exosc9	A	G	3: 36,552,744	E20G	probably damaging	Het
Fer	A	G	17: 64,138,965	K437R	probably benign	Het
Fkbp6	A	T	5: 135,337,630	V284E	probably benign	Het
Foxq1	A	T	13: 31,559,169	S85C	probably damaging	Het
Galnt12	T	A	4: 47,113,832	S83R	probably damaging	Het
Gm5244	A	T	19: 12,846,863		noncoding transcript	Het
Gm765	T	A	6: 98,248,072	E83D	possibly damaging	Het
Gm884	T	C	11: 103,612,871		probably benign	Het
Gpr156	A	G	16: 38,005,311	D630G	probably benign	Het
Hace1	A	T	10: 45,590,375		probably null	Het
Hemgn	G	T	4: 46,396,420	T272K	probably damaging	Het
Ifi213	T	G	1: 173,595,032	E89A	possibly damaging	Het
Jarid2	A	G	13: 44,913,201	E954G	probably damaging	Het
Kcnu1	A	G	8: 25,858,184	D126G	probably damaging	Het
Lbh	A	T	17: 72,921,252	I31F	possibly damaging	Het
Muc6	T	C	7: 141,649,624	E490G	probably damaging	Het
Ncoa3	T	C	2: 166,055,346	S686P	probably damaging	Het
Nme4	A	G	17: 26,093,860	M108T	probably damaging	Het
Nod1	A	C	6: 54,943,419	V638G	possibly damaging	Het
Nrip2	A	G	6: 128,406,539	N70S	probably damaging	Het
Olfr1111	A	G	2: 87,149,887	M258T	probably benign	Het
Olfr1344	T	A	7: 6,440,245	I115N	probably damaging	Het
Pitrm1	G	A	13: 6,567,341		probably benign	Het
Proser1	A	G	3: 53,471,491	K115E	probably damaging	Het
Ptov1	C	T	7: 44,867,476	G70R	probably damaging	Het
Qtrt1	T	G	9: 21,417,389		probably null	Het
Rbbp8nl	A	G	2: 180,278,188		probably benign	Het
Setd4	A	G	16: 93,593,295	L82P	probably damaging	Het
Shank2	C	T	7: 144,285,047	L27F	possibly damaging	Het
Srpk2	A	C	5: 23,545,570	V45G	probably damaging	Het
Utrn	A	G	10: 12,751,559	F57S	probably damaging	Het
Vcan	T	G	13: 89,703,077	T1255P	probably damaging	Het
Vmn2r16	A	C	5: 109,339,810	H183P	probably damaging	Het
Wdr48	T	C	9: 119,909,535	I286T	probably benign	Het

Other mutations in Rtn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00791:Rtn3	APN	19	7435069	missense	probably damaging	1.00
IGL01025:Rtn3	APN	19	7483041	missense	unknown
IGL01347:Rtn3	APN	19	7457280	missense	probably benign	0.01
IGL01845:Rtn3	APN	19	7457876	missense	probably damaging	1.00
IGL03024:Rtn3	APN	19	7483090	utr 5 prime	probably benign
R0399:Rtn3	UTSW	19	7457876	missense	probably damaging	1.00
R0633:Rtn3	UTSW	19	7457593	missense	probably benign	0.03
R0826:Rtn3	UTSW	19	7467880	intron	probably benign
R1327:Rtn3	UTSW	19	7431011	missense	possibly damaging	0.81
R1735:Rtn3	UTSW	19	7457911	missense	probably damaging	0.96
R2093:Rtn3	UTSW	19	7456850	missense	probably damaging	1.00
R3116:Rtn3	UTSW	19	7431990	missense	probably damaging	1.00
R3894:Rtn3	UTSW	19	7435085	missense	probably damaging	1.00
R3961:Rtn3	UTSW	19	7458145	missense	probably damaging	0.99
R3962:Rtn3	UTSW	19	7458145	missense	probably damaging	0.99
R3963:Rtn3	UTSW	19	7458145	missense	probably damaging	0.99
R4161:Rtn3	UTSW	19	7483079	missense	probably benign	0.38
R4960:Rtn3	UTSW	19	7456521	missense	probably damaging	1.00
R5585:Rtn3	UTSW	19	7458195	missense	probably benign	0.12
R5735:Rtn3	UTSW	19	7456692	missense	probably damaging	0.99
R5796:Rtn3	UTSW	19	7457467	missense	possibly damaging	0.48
R5807:Rtn3	UTSW	19	7456827	missense	probably damaging	1.00
R5864:Rtn3	UTSW	19	7435111	missense	probably damaging	1.00
R6322:Rtn3	UTSW	19	7458138	missense	possibly damaging	0.60
R6703:Rtn3	UTSW	19	7435045	missense	probably damaging	1.00
R6883:Rtn3	UTSW	19	7458331	missense	probably benign	0.31
R6888:Rtn3	UTSW	19	7457249	missense	probably benign	0.00
R6989:Rtn3	UTSW	19	7456491	missense	possibly damaging	0.95
X0060:Rtn3	UTSW	19	7432571	missense	possibly damaging	0.80

Posted On

2015-04-16