Mutagenetix > Incidental Mutation

Incidental Mutation 'R5735:Rtn3'

451682

Institutional Source

Beutler Lab

Gene Symbol

Rtn3

Ensembl Gene

ENSMUSG00000024758

Gene Name

reticulon 3

Synonyms

MMRRC Submission

043349-MU

Accession Numbers

Essential gene?

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

Stock #

R5735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7403266-7460646 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7434057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 626 (E626G)

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 damaging
Transcript: ENSMUST00000065304
AA Change: E645G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000065810
Gene: ENSMUSG00000024758
AA Change: E645G

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: E626G

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

SMART Domains

Protein: ENSMUSP00000085496
Gene: ENSMUSG00000024758
AA Change: E626G

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: 99.0%
3x: 98.3%
10x: 96.8%
20x: 94.4%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	C	A	13: 70,984,337 (GRCm39)	D109Y	possibly damaging	Het
Armc8	T	A	9: 99,379,447 (GRCm39)		probably null	Het
Atg4b	G	T	1: 93,701,519 (GRCm39)	G71V	probably damaging	Het
Atp10b	A	T	11: 43,042,601 (GRCm39)	M54L	probably benign	Het
Baiap2l1	A	G	5: 144,223,112 (GRCm39)	L75P	probably damaging	Het
Bnc2	A	C	4: 84,210,908 (GRCm39)	L487R	probably damaging	Het
Cacng7	T	C	7: 3,387,539 (GRCm39)	S141P	probably benign	Het
Carmil2	G	A	8: 106,424,663 (GRCm39)	G1361D	probably damaging	Het
Cenpf	T	C	1: 189,386,560 (GRCm39)	I1907V	probably benign	Het
Cep192	T	C	18: 68,013,866 (GRCm39)	V2422A	probably benign	Het
Cfap73	T	A	5: 120,770,671 (GRCm39)	Q33L	probably benign	Het
Cip2a	T	A	16: 48,837,856 (GRCm39)		probably null	Het
Cmtm2a	A	T	8: 105,019,418 (GRCm39)	I57N	probably damaging	Het
Col6a2	T	A	10: 76,435,727 (GRCm39)	D836V	probably benign	Het
Dnah2	A	G	11: 69,321,643 (GRCm39)	V3839A	possibly damaging	Het
Enpp1	A	T	10: 24,530,817 (GRCm39)	F546L	possibly damaging	Het
Eps8l2	A	G	7: 140,940,290 (GRCm39)	T507A	probably damaging	Het
Erg28	C	T	12: 85,862,926 (GRCm39)	E129K	probably benign	Het
Erlec1	A	T	11: 30,900,591 (GRCm39)	N153K	probably benign	Het
Fam234a	T	C	17: 26,432,679 (GRCm39)	E490G	probably damaging	Het
Fat4	C	T	3: 39,003,725 (GRCm39)	R1815C	probably damaging	Het
Galnt1	T	G	18: 24,397,577 (GRCm39)	I226S	possibly damaging	Het
Ifnl2	T	A	7: 28,209,614 (GRCm39)	I58F	possibly damaging	Het
Itih5	A	G	2: 10,245,572 (GRCm39)	N554D	probably benign	Het
Kcna10	A	G	3: 107,102,394 (GRCm39)	I342V	probably benign	Het
Kif6	G	A	17: 50,139,210 (GRCm39)	E561K	probably damaging	Het
Kl	A	G	5: 150,915,003 (GRCm39)	N910S	possibly damaging	Het
Lpar2	G	T	8: 70,276,385 (GRCm39)	R58L	probably damaging	Het
Macrod2	A	G	2: 140,260,809 (GRCm39)	T27A	possibly damaging	Het
Mfsd2a	A	T	4: 122,843,120 (GRCm39)	V387D	probably damaging	Het
Npas3	A	T	12: 54,050,262 (GRCm39)	T231S	probably benign	Het
Or4a70	A	T	2: 89,323,812 (GRCm39)	N281K	probably damaging	Het
Or52n5	A	T	7: 104,587,966 (GRCm39)	T78S	probably benign	Het
Or5aq1b	A	T	2: 86,901,756 (GRCm39)	C241S	probably damaging	Het
Or8h10	A	G	2: 86,809,044 (GRCm39)	V32A	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pde10a	A	T	17: 9,160,024 (GRCm39)	I432F	probably damaging	Het
Phka2	ACC	AC	X: 159,342,862 (GRCm39)		probably null	Het
Pomt1	G	A	2: 32,133,517 (GRCm39)	G218R	probably damaging	Het
Potefam1	A	T	2: 111,055,837 (GRCm39)	L183*	probably null	Het
Pramel22	A	T	4: 143,381,205 (GRCm39)	C273S	probably damaging	Het
Prdm5	C	T	6: 65,904,974 (GRCm39)	T157I	possibly damaging	Het
Psen2	T	A	1: 180,068,491 (GRCm39)	E54V	probably benign	Het
Ptpn13	C	A	5: 103,702,686 (GRCm39)	H1217Q	probably benign	Het
Ptprt	A	G	2: 161,376,484 (GRCm39)	S1306P	probably damaging	Het
Ptpru	G	T	4: 131,565,401 (GRCm39)	P23T	probably benign	Het
Scn3a	A	T	2: 65,312,622 (GRCm39)	M1191K	probably damaging	Het
Scn3a	T	A	2: 65,314,803 (GRCm39)	N1086I	probably benign	Het
Sgms2	A	T	3: 131,129,866 (GRCm39)	M174K	probably damaging	Het
Skor1	T	A	9: 63,053,346 (GRCm39)	I180F	probably damaging	Het
Slit2	T	G	5: 48,416,958 (GRCm39)	C1003W	probably damaging	Het
Tbc1d2b	T	A	9: 90,104,462 (GRCm39)	Q560L	possibly damaging	Het
Themis	A	G	10: 28,598,530 (GRCm39)	I51V	probably benign	Het
Tmem203	T	C	2: 25,146,085 (GRCm39)	V135A	probably benign	Het
Tns1	T	C	1: 73,967,138 (GRCm39)	T1212A	probably benign	Het
Trgv5	T	G	13: 19,376,695 (GRCm39)	H47Q	probably benign	Het
Trim2	G	A	3: 84,075,029 (GRCm39)	A697V	probably damaging	Het
Ubxn4	T	C	1: 128,186,677 (GRCm39)	S37P	possibly damaging	Het
Vmn2r17	A	G	5: 109,600,716 (GRCm39)	I671M	possibly damaging	Het
Vmn2r94	G	T	17: 18,464,066 (GRCm39)	S741R	probably damaging	Het
Vwce	C	A	19: 10,624,431 (GRCm39)	D414E	probably benign	Het
Zfp397	T	C	18: 24,093,249 (GRCm39)	S245P	possibly damaging	Het
Zfp747l1	G	T	7: 126,984,579 (GRCm39)	H174Q	possibly damaging	Het
Zfp809	T	A	9: 22,150,227 (GRCm39)	Y241*	probably null	Het
Zfp995	C	T	17: 22,101,010 (GRCm39)	C29Y	probably benign	Het
Zfta	A	G	19: 7,400,161 (GRCm39)	E209G	probably benign	Het
Zfyve26	T	C	12: 79,320,147 (GRCm39)	D1066G	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
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'- TTGCTTGAGTTTTCCTCCAGAAG -3'
(R):5'- AGCTTCTGCCAAGTTGGAATC -3'

Sequencing Primer
(F):5'- AGAAGATATTCCTTCATCCTGCAC -3'
(R):5'- CTGCCAAGTTGGAATCTTTGC -3'

Posted On

2017-01-03