Mutagenetix > Incidental Mutation

Incidental Mutation 'R9225:Rtn3'

699829

Institutional Source

Beutler Lab

Gene Symbol

Rtn3

Ensembl Gene

ENSMUSG00000024758

Gene Name

reticulon 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9225 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7403266-7460646 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7434854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 379 (N379K)

Ref Sequence

ENSEMBL: ENSMUSP00000065810 (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 damaging
Transcript: ENSMUST00000065304
AA Change: N379K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000065810
Gene: ENSMUSG00000024758
AA Change: N379K

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 damaging
Transcript: ENSMUST00000088171
AA Change: N360K

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

SMART Domains

Protein: ENSMUSP00000085496
Gene: ENSMUSG00000024758
AA Change: N360K

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	G	T	5: 88,120,433 (GRCm39)	V397L	probably benign	Het
Adam26b	G	T	8: 43,973,453 (GRCm39)	Y516*	probably null	Het
Afap1	A	G	5: 36,133,968 (GRCm39)	K468E	possibly damaging	Het
Ank2	A	G	3: 126,736,111 (GRCm39)	S3258P	unknown	Het
Ap1g1	A	G	8: 110,585,509 (GRCm39)	K783E	probably benign	Het
Apbb1	A	G	7: 105,218,063 (GRCm39)	S20P		Het
Atg13	T	C	2: 91,519,128 (GRCm39)		probably null	Het
Atg16l2	A	G	7: 100,951,188 (GRCm39)	V16A	probably benign	Het
Atp11a	G	A	8: 12,867,005 (GRCm39)	R144Q	probably benign	Het
Avpr1a	A	T	10: 122,285,466 (GRCm39)	T253S	probably benign	Het
B4galnt3	T	C	6: 120,195,928 (GRCm39)	T300A	probably damaging	Het
Bag4	A	G	8: 26,261,270 (GRCm39)	V157A	probably benign	Het
Brsk2	A	G	7: 141,547,039 (GRCm39)	H494R	probably damaging	Het
Cacna2d2	G	A	9: 107,403,403 (GRCm39)	G955S	probably benign	Het
Ccdc42	A	T	11: 68,479,061 (GRCm39)	E83V	probably damaging	Het
Cep120	T	C	18: 53,839,896 (GRCm39)	Q788R	probably benign	Het
Cnbd1	A	G	4: 18,907,010 (GRCm39)	I188T	probably benign	Het
Col6a6	C	T	9: 105,659,437 (GRCm39)	E503K	possibly damaging	Het
Cpt1c	A	T	7: 44,610,213 (GRCm39)	L661H	probably damaging	Het
Cyp2a22	T	C	7: 26,637,202 (GRCm39)	D194G	possibly damaging	Het
Cyp2c70	C	A	19: 40,168,912 (GRCm39)	R125L	probably damaging	Het
Cyp3a41a	A	T	5: 145,650,414 (GRCm39)	D76E	probably benign	Het
Cyp4f13	A	T	17: 33,144,319 (GRCm39)	I458N	probably damaging	Het
Cyp4f13	T	C	17: 33,148,175 (GRCm39)	Q350R	probably damaging	Het
Ddx60	G	A	8: 62,470,875 (GRCm39)	V1456I	probably benign	Het
Dgkh	T	C	14: 78,962,507 (GRCm39)	H8R	probably damaging	Het
Diaph3	A	G	14: 87,244,760 (GRCm39)		probably null	Het
Dnah8	A	C	17: 30,854,647 (GRCm39)	D103A	probably benign	Het
Dock4	G	A	12: 40,879,669 (GRCm39)	R1551Q	probably benign	Het
Eps8	A	T	6: 137,507,561 (GRCm39)	S56T	probably benign	Het
Fam171b	T	A	2: 83,710,386 (GRCm39)	L686Q	probably damaging	Het
Fndc3b	A	C	3: 27,510,680 (GRCm39)	L814*	probably null	Het
Gcnt2	T	A	13: 41,014,336 (GRCm39)	L169Q	probably damaging	Het
Gm21103	T	A	14: 17,484,877 (GRCm39)	I56F	possibly damaging	Het
Gpc1	A	T	1: 92,783,742 (GRCm39)	K276N	probably damaging	Het
Hivep1	T	A	13: 42,337,184 (GRCm39)	V2421D	probably damaging	Het
Hoxb1	T	C	11: 96,257,119 (GRCm39)	L156P	probably benign	Het
Ifi208	A	G	1: 173,518,294 (GRCm39)	D467G	possibly damaging	Het
Klhl22	A	G	16: 17,594,617 (GRCm39)	M249V	probably damaging	Het
Kmt2b	A	G	7: 30,286,172 (GRCm39)	V240A	unknown	Het
Lacc1	A	T	14: 77,272,414 (GRCm39)	Y127*	probably null	Het
Lgr4	C	A	2: 109,842,485 (GRCm39)	H823Q	probably benign	Het
Llgl1	T	C	11: 60,600,889 (GRCm39)	S662P	probably damaging	Het
Lrrc1	G	A	9: 77,359,955 (GRCm39)	T279I	probably benign	Het
Lrrc8e	T	A	8: 4,284,561 (GRCm39)	V262E	probably damaging	Het
Magi1	G	T	6: 93,762,511 (GRCm39)	P292T	possibly damaging	Het
Mccc1	T	A	3: 36,018,511 (GRCm39)	I608F	probably benign	Het
Mroh8	T	A	2: 157,107,010 (GRCm39)	I220L	probably damaging	Het
Mtcl3	A	T	10: 29,072,327 (GRCm39)	K540*	probably null	Het
Mycn	C	A	12: 12,987,609 (GRCm39)	D263Y	probably damaging	Het
Myrip	A	G	9: 120,293,850 (GRCm39)	K782E	probably damaging	Het
Ncoa6	T	A	2: 155,249,441 (GRCm39)	I1288F	possibly damaging	Het
Nebl	A	G	2: 17,405,322 (GRCm39)	I399T	possibly damaging	Het
Neurod1	A	T	2: 79,284,731 (GRCm39)	H217Q	probably benign	Het
Nlrp5	T	C	7: 23,117,371 (GRCm39)	V365A	probably benign	Het
Or1e1	C	A	11: 73,244,595 (GRCm39)	N5K	probably damaging	Het
Or2ag12	A	G	7: 106,276,976 (GRCm39)	V239A	probably benign	Het
Or5b100-ps1	G	C	19: 12,994,371 (GRCm39)	*261Y	probably null	Het
Or5b100-ps1	A	G	19: 12,994,370 (GRCm39)	*261W	probably null	Het
Otud7a	A	G	7: 63,407,469 (GRCm39)	T591A	possibly damaging	Het
Pbx3	T	C	2: 34,260,938 (GRCm39)		probably benign	Het
Pcdhb4	A	T	18: 37,441,695 (GRCm39)	Q335L	possibly damaging	Het
Plxnc1	C	A	10: 94,629,061 (GRCm39)	C1571F	probably damaging	Het
Pola2	G	A	19: 6,000,492 (GRCm39)	P330S	probably benign	Het
Ppm1l	A	T	3: 69,460,244 (GRCm39)	N274Y	probably benign	Het
Ppp4r3b	A	G	11: 29,155,648 (GRCm39)	D538G	possibly damaging	Het
Ptx4	C	T	17: 25,341,696 (GRCm39)	T57I	probably benign	Het
Rchy1	A	T	5: 92,105,396 (GRCm39)	C108*	probably null	Het
Rif1	A	G	2: 52,001,862 (GRCm39)	E130G	probably benign	Het
Rmdn1	A	T	4: 19,601,385 (GRCm39)	Y219F	probably damaging	Het
Rnf144a	A	G	12: 26,377,606 (GRCm39)	C46R	probably damaging	Het
Rpl13a	C	A	7: 44,775,627 (GRCm39)	G146V	probably damaging	Het
Rpl13a	C	A	7: 44,775,628 (GRCm39)	G146W	probably damaging	Het
Sdc1	G	T	12: 8,821,817 (GRCm39)	R19L	unknown	Het
Shank1	A	G	7: 43,983,470 (GRCm39)	I651V	unknown	Het
Slamf6	T	C	1: 171,764,270 (GRCm39)	V221A	probably benign	Het
Sp9	C	A	2: 73,103,839 (GRCm39)	S131*	probably null	Het
Spen	T	C	4: 141,202,943 (GRCm39)	T1895A	possibly damaging	Het
Taf6l	CGCAGCCGCACCTG	CG	19: 8,751,688 (GRCm39)		probably benign	Het
Thada	G	T	17: 84,749,172 (GRCm39)	H600N	possibly damaging	Het
Trmt11	G	T	10: 30,423,753 (GRCm39)	P384Q	probably damaging	Het
Tsnaxip1	T	C	8: 106,566,659 (GRCm39)	L165P	probably damaging	Het
Ttc7	A	G	17: 87,637,502 (GRCm39)	Y419C	probably damaging	Het
Ugt1a6a	T	C	1: 88,066,560 (GRCm39)	F122S	probably benign	Het
Vmn1r218	G	A	13: 23,320,824 (GRCm39)	C57Y	probably benign	Het
Vmn2r14	T	C	5: 109,369,288 (GRCm39)	N95S	probably damaging	Het
Vmn2r2	G	T	3: 64,034,021 (GRCm39)	H500Q	probably benign	Het
Vmn2r70	T	A	7: 85,208,242 (GRCm39)	Y745F	probably damaging	Het
Zfp189	C	T	4: 49,530,193 (GRCm39)	S432F	probably benign	Het
Zscan2	C	T	7: 80,513,021 (GRCm39)	A2V	probably 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
R0826:Rtn3	UTSW	19	7,445,245 (GRCm39)	intron	probably benign
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
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'- AGACCCATTTCTCAGGCATAGAG -3'
(R):5'- TCGGTAGACAGTTCTCACACAC -3'

Sequencing Primer
(F):5'- GCCAGGCAGCTCAGAATG -3'
(R):5'- GGTAGACAGTTCTCACACACTACAG -3'

Posted On

2022-02-07