Mutagenetix > Incidental Mutation

Incidental Mutation 'R0826:Rtn3'

78269

Institutional Source

Beutler Lab

Gene Symbol

Rtn3

Ensembl Gene

ENSMUSG00000024758

Gene Name

reticulon 3

Synonyms

MMRRC Submission

039006-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R0826 (G1)

Quality Score

171

Status

Validated

Chromosome

Chromosomal Location

7403266-7460646 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 7445245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000085496 (fasta)

Gene Model

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

AlphaFold

Q9ES97

Predicted Effect

probably benign
Transcript: ENSMUST00000025667

SMART Domains

Protein: ENSMUSP00000025667
Gene: ENSMUSG00000024758

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 benign
Transcript: ENSMUST00000065304

SMART Domains

Protein: ENSMUSP00000065810
Gene: ENSMUSG00000024758

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

probably benign
Transcript: ENSMUST00000088169

SMART Domains

Protein: ENSMUSP00000085494
Gene: ENSMUSG00000024758

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 benign
Transcript: ENSMUST00000088171

SMART Domains

Protein: ENSMUSP00000085496
Gene: ENSMUSG00000024758

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

1x: 99.5%
3x: 98.6%
10x: 95.7%
20x: 86.3%

Validation Efficiency

100% (69/69)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4931406C07Rik	T	C	9: 15,203,292 (GRCm39)		probably null	Het
Adamts16	T	A	13: 70,916,811 (GRCm39)	D727V	possibly damaging	Het
Anxa10	A	C	8: 62,529,318 (GRCm39)	L133*	probably null	Het
Arfgef3	G	A	10: 18,465,414 (GRCm39)	T2143I	probably damaging	Het
Arhgef17	T	C	7: 100,579,950 (GRCm39)	T333A	probably benign	Het
Arhgef40	A	G	14: 52,238,450 (GRCm39)	T1310A	probably benign	Het
Atg10	C	T	13: 91,084,705 (GRCm39)		probably null	Het
Atp1a1	A	G	3: 101,492,169 (GRCm39)	F569S	probably damaging	Het
Baiap3	A	G	17: 25,464,203 (GRCm39)	W849R	possibly damaging	Het
Baz1a	A	T	12: 54,977,097 (GRCm39)	Y9*	probably null	Het
Catsperg2	C	T	7: 29,405,049 (GRCm39)	D702N	possibly damaging	Het
Clasrp	G	T	7: 19,318,226 (GRCm39)		probably benign	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Col19a1	T	C	1: 24,565,467 (GRCm39)	K288R	unknown	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cttnbp2	A	G	6: 18,405,177 (GRCm39)		probably benign	Het
Dnah1	T	A	14: 31,025,864 (GRCm39)	I828F	probably benign	Het
Dpf2	G	T	19: 5,957,155 (GRCm39)	Q23K	probably damaging	Het
Dsc3	T	A	18: 20,114,229 (GRCm39)	I342F	probably damaging	Het
Enpp3	A	G	10: 24,671,614 (GRCm39)	L460P	probably damaging	Het
Epb41l2	A	G	10: 25,380,090 (GRCm39)	E871G	probably damaging	Het
Exoc2	T	C	13: 31,040,780 (GRCm39)		probably null	Het
Fam243	G	A	16: 92,118,075 (GRCm39)	S71L	probably benign	Het
Fpr-rs7	A	T	17: 20,333,888 (GRCm39)	S201T	probably benign	Het
Gtf2ird2	T	C	5: 134,245,797 (GRCm39)	F685S	probably damaging	Het
Helz2	C	T	2: 180,882,646 (GRCm39)	R49H	possibly damaging	Het
Ica1	A	G	6: 8,667,375 (GRCm39)		probably benign	Het
Ift56	A	G	6: 38,402,049 (GRCm39)		probably null	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kif21a	A	G	15: 90,881,744 (GRCm39)		probably null	Het
Lamb3	T	A	1: 193,013,216 (GRCm39)	C480*	probably null	Het
Lamc2	A	G	1: 153,027,828 (GRCm39)	S199P	probably damaging	Het
Lrfn3	T	C	7: 30,059,676 (GRCm39)	N183S	probably benign	Het
Lsm14a	C	A	7: 34,070,470 (GRCm39)		probably benign	Het
Mest	C	A	6: 30,742,813 (GRCm39)	H146Q	probably damaging	Het
Mmp27	T	C	9: 7,579,010 (GRCm39)	V339A	probably damaging	Het
Myo16	T	C	8: 10,426,285 (GRCm39)		probably benign	Het
Myoz1	C	T	14: 20,703,679 (GRCm39)		probably benign	Het
Nlrp5	A	G	7: 23,117,133 (GRCm39)	M286V	probably benign	Het
Optc	T	C	1: 133,832,893 (GRCm39)	K69R	probably benign	Het
Or13c3	C	T	4: 52,855,566 (GRCm39)	V316I	probably benign	Het
Or2y1c	A	T	11: 49,361,158 (GRCm39)	Y60F	probably damaging	Het
Or4a77	A	C	2: 89,487,181 (GRCm39)	N201K	possibly damaging	Het
Or8g18	C	T	9: 39,149,725 (GRCm39)	M1I	probably null	Het
Osbpl3	A	T	6: 50,323,357 (GRCm39)	M242K	probably damaging	Het
Pdzd9	T	A	7: 120,267,624 (GRCm39)	S64C	probably damaging	Het
Pik3cg	A	G	12: 32,245,672 (GRCm39)	S859P	possibly damaging	Het
Ppp1r12a	G	T	10: 108,066,414 (GRCm39)	A202S	possibly damaging	Het
Rab32	A	T	10: 10,426,611 (GRCm39)	F112I	possibly damaging	Het
Ror2	T	C	13: 53,267,253 (GRCm39)	Y394C	probably damaging	Het
Sbk1	C	T	7: 125,891,007 (GRCm39)	P147L	probably damaging	Het
Shpk	T	A	11: 73,094,857 (GRCm39)	M91K	probably damaging	Het
Slco6c1	C	T	1: 97,055,826 (GRCm39)	S25N	probably benign	Het
Snx2	A	T	18: 53,327,594 (GRCm39)	T107S	probably benign	Het
Tle2	G	A	10: 81,422,148 (GRCm39)	V397I	possibly damaging	Het
Tmem131l	T	C	3: 83,805,724 (GRCm39)	D1573G	probably damaging	Het
Tnfrsf8	A	G	4: 145,011,708 (GRCm39)		probably benign	Het
Tpmt	T	C	13: 47,194,965 (GRCm39)	E36G	probably benign	Het
Trim30c	T	A	7: 104,032,688 (GRCm39)	T257S	probably benign	Het
Tsc2	A	G	17: 24,815,932 (GRCm39)	L150P	probably benign	Het
Upf3a	G	C	8: 13,848,338 (GRCm39)	G378A	possibly damaging	Het
Yeats2	A	T	16: 20,011,966 (GRCm39)	K514*	probably null	Het
Zfp11	A	G	5: 129,734,589 (GRCm39)	Y291H	probably benign	Het
Zfp457	T	C	13: 67,441,378 (GRCm39)	D399G	possibly damaging	Het

Other mutations in Rtn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00791:Rtn3	APN	19	7,412,434 (GRCm39)	missense	probably damaging	1.00
IGL01025:Rtn3	APN	19	7,460,406 (GRCm39)	missense	unknown
IGL01347:Rtn3	APN	19	7,434,645 (GRCm39)	missense	probably benign	0.01
IGL01845:Rtn3	APN	19	7,435,241 (GRCm39)	missense	probably damaging	1.00
IGL02217:Rtn3	APN	19	7,412,449 (GRCm39)	missense	probably damaging	0.99
IGL03024:Rtn3	APN	19	7,460,455 (GRCm39)	utr 5 prime	probably benign
R0399:Rtn3	UTSW	19	7,435,241 (GRCm39)	missense	probably damaging	1.00
R0633:Rtn3	UTSW	19	7,434,958 (GRCm39)	missense	probably benign	0.03
R1327:Rtn3	UTSW	19	7,408,376 (GRCm39)	missense	possibly damaging	0.81
R1735:Rtn3	UTSW	19	7,435,276 (GRCm39)	missense	probably damaging	0.96
R2093:Rtn3	UTSW	19	7,434,215 (GRCm39)	missense	probably damaging	1.00
R3116:Rtn3	UTSW	19	7,409,355 (GRCm39)	missense	probably damaging	1.00
R3894:Rtn3	UTSW	19	7,412,450 (GRCm39)	missense	probably damaging	1.00
R3961:Rtn3	UTSW	19	7,435,510 (GRCm39)	missense	probably damaging	0.99
R3962:Rtn3	UTSW	19	7,435,510 (GRCm39)	missense	probably damaging	0.99
R3963:Rtn3	UTSW	19	7,435,510 (GRCm39)	missense	probably damaging	0.99
R4161:Rtn3	UTSW	19	7,460,444 (GRCm39)	missense	probably benign	0.38
R4960:Rtn3	UTSW	19	7,433,886 (GRCm39)	missense	probably damaging	1.00
R5585:Rtn3	UTSW	19	7,435,560 (GRCm39)	missense	probably benign	0.12
R5735:Rtn3	UTSW	19	7,434,057 (GRCm39)	missense	probably damaging	0.99
R5796:Rtn3	UTSW	19	7,434,832 (GRCm39)	missense	possibly damaging	0.48
R5807:Rtn3	UTSW	19	7,434,192 (GRCm39)	missense	probably damaging	1.00
R5864:Rtn3	UTSW	19	7,412,476 (GRCm39)	missense	probably damaging	1.00
R6322:Rtn3	UTSW	19	7,435,503 (GRCm39)	missense	possibly damaging	0.60
R6703:Rtn3	UTSW	19	7,412,410 (GRCm39)	missense	probably damaging	1.00
R6885:Rtn3	UTSW	19	7,435,696 (GRCm39)	missense	probably benign	0.31
R6888:Rtn3	UTSW	19	7,434,614 (GRCm39)	missense	probably benign	0.00
R6989:Rtn3	UTSW	19	7,433,856 (GRCm39)	missense	possibly damaging	0.95
R6992:Rtn3	UTSW	19	7,412,489 (GRCm39)	missense	probably damaging	1.00
R7506:Rtn3	UTSW	19	7,407,118 (GRCm39)	missense	probably benign	0.08
R7610:Rtn3	UTSW	19	7,435,294 (GRCm39)	missense	probably damaging	1.00
R7639:Rtn3	UTSW	19	7,435,356 (GRCm39)	missense	probably benign	0.01
R7909:Rtn3	UTSW	19	7,433,827 (GRCm39)	missense	possibly damaging	0.67
R7915:Rtn3	UTSW	19	7,434,865 (GRCm39)	missense	probably benign	0.06
R8088:Rtn3	UTSW	19	7,412,363 (GRCm39)	missense	probably damaging	1.00
R8549:Rtn3	UTSW	19	7,434,624 (GRCm39)	missense	probably benign	0.03
R8725:Rtn3	UTSW	19	7,434,726 (GRCm39)	missense	probably benign
R8727:Rtn3	UTSW	19	7,434,726 (GRCm39)	missense	probably benign
R8917:Rtn3	UTSW	19	7,434,105 (GRCm39)	missense	possibly damaging	0.78
R9225:Rtn3	UTSW	19	7,434,854 (GRCm39)	missense	probably damaging	1.00
R9336:Rtn3	UTSW	19	7,460,328 (GRCm39)	missense	unknown
X0060:Rtn3	UTSW	19	7,409,936 (GRCm39)	missense	possibly damaging	0.80
Z1192:Rtn3	UTSW	19	7,460,342 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTGGCAACTCTTCAGTAGAGAAAGGAC -3'
(R):5'- TGGTGAACTTGTAGAAGTGCATCCTG -3'

Sequencing Primer
(F):5'- AAGGACGGACTAGTAGTTAGTTTCC -3'
(R):5'- CCTGGGAGTGAAATGAGGTG -3'

Posted On

2013-10-16