Mutagenetix > Incidental Mutation

Incidental Mutation 'R8727:Rtn3'

662545

Institutional Source

Beutler Lab

Gene Symbol

Rtn3

Ensembl Gene

ENSMUSG00000024758

Gene Name

reticulon 3

Synonyms

MMRRC Submission

068575-MU

Accession Numbers

Essential gene?

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

Stock #

R8727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7403266-7460646 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7434726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 422 (L422P)

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 benign
Transcript: ENSMUST00000065304
AA Change: L422P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000065810
Gene: ENSMUSG00000024758
AA Change: L422P

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
AA Change: L403P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000085496
Gene: ENSMUSG00000024758
AA Change: L403P

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: 99.9%
10x: 99.1%
20x: 96.2%

Validation Efficiency

100% (80/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	C	T	16: 97,867,651 (GRCm39)	A104T	probably damaging	Het
Abhd18	T	A	3: 40,884,627 (GRCm39)	L222Q	probably damaging	Het
Adam30	C	T	3: 98,070,348 (GRCm39)	T727M	possibly damaging	Het
Adh6b	A	T	3: 138,058,729 (GRCm39)	Q137L	probably damaging	Het
Alpl	C	T	4: 137,475,127 (GRCm39)	V269I	probably benign	Het
Ang2	C	T	14: 51,432,996 (GRCm39)	G129S	probably benign	Het
Atp6v0a1	A	T	11: 100,920,015 (GRCm39)	H216L	possibly damaging	Het
BC030500	C	T	8: 59,366,049 (GRCm39)	T61I	unknown	Het
Brpf1	T	G	6: 113,293,491 (GRCm39)	L520R	probably damaging	Het
Btbd10	A	G	7: 112,927,626 (GRCm39)	I243T	possibly damaging	Het
Bub1	C	A	2: 127,646,139 (GRCm39)	C947F	probably damaging	Het
C4b	T	C	17: 34,953,459 (GRCm39)	E1008G	probably damaging	Het
Ccdc40	A	G	11: 119,155,323 (GRCm39)	T1188A	probably benign	Het
Cdcp3	A	G	7: 130,875,485 (GRCm39)	T1770A	unknown	Het
Cnn1	G	T	9: 22,010,557 (GRCm39)		probably benign	Het
Colgalt2	T	C	1: 152,360,662 (GRCm39)	M233T	probably damaging	Het
Cox15	A	T	19: 43,735,181 (GRCm39)	C195*	probably null	Het
Cped1	A	T	6: 22,059,941 (GRCm39)	R202S	possibly damaging	Het
Dact2	A	T	17: 14,417,146 (GRCm39)	C351*	probably null	Het
Dbnl	A	G	11: 5,738,582 (GRCm39)	N8S	probably benign	Het
Depdc1a	T	A	3: 159,228,356 (GRCm39)	N369K	probably benign	Het
Dnah2	A	T	11: 69,415,005 (GRCm39)	L243Q	probably damaging	Het
Dscaml1	T	A	9: 45,341,759 (GRCm39)	Y57N	probably benign	Het
Eif2b3	A	G	4: 116,927,944 (GRCm39)	T388A	probably benign	Het
Eif4h	A	C	5: 134,654,393 (GRCm39)		probably null	Het
Elf1	C	T	14: 79,810,667 (GRCm39)	Q288*	probably null	Het
Fbxl5	A	T	5: 43,908,362 (GRCm39)		probably benign	Het
Fgl2	C	T	5: 21,580,677 (GRCm39)	R340*	probably null	Het
Fut4	T	C	9: 14,662,082 (GRCm39)	D404G	probably damaging	Het
Glmn	G	A	5: 107,718,152 (GRCm39)	P255L	probably benign	Het
Gm14322	C	T	2: 177,411,481 (GRCm39)	T97I	probably benign	Het
Gm44511	C	A	6: 128,797,997 (GRCm39)	C32F	probably damaging	Het
Gm5478	A	G	15: 101,553,871 (GRCm39)	F247S	probably damaging	Het
Golgb1	T	A	16: 36,739,563 (GRCm39)	M2675K	probably damaging	Het
Hectd1	T	C	12: 51,849,000 (GRCm39)	D368G	possibly damaging	Het
Hnrnpul2	A	G	19: 8,798,064 (GRCm39)	N140S	probably benign	Het
Htr4	A	T	18: 62,561,209 (GRCm39)	I157L	probably damaging	Het
Igf2bp3	G	T	6: 49,086,009 (GRCm39)		probably benign	Het
Kcnma1	T	G	14: 23,436,332 (GRCm39)	M790L	probably benign	Het
Kcnv1	G	A	15: 44,977,999 (GRCm39)	S13L	unknown	Het
Kctd20	C	T	17: 29,184,025 (GRCm39)	R312*	probably null	Het
Kdm3b	T	A	18: 34,960,435 (GRCm39)	I1340N	probably damaging	Het
Kdm6b	A	G	11: 69,292,919 (GRCm39)	F1286L	unknown	Het
Knl1	T	A	2: 118,899,524 (GRCm39)	F408L	probably benign	Het
Lypd5	G	T	7: 24,053,101 (GRCm39)	G253W	probably damaging	Het
Mea1	A	G	17: 46,992,614 (GRCm39)	T21A	probably benign	Het
Metrnl	A	G	11: 121,606,842 (GRCm39)	E299G	possibly damaging	Het
Mindy4	T	A	6: 55,256,055 (GRCm39)		probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nbn	G	A	4: 15,963,911 (GRCm39)	S104N	probably damaging	Het
Nxpe2	A	T	9: 48,238,073 (GRCm39)	F61I	probably benign	Het
Or6c1b	T	C	10: 129,273,334 (GRCm39)	Y218H	probably benign	Het
Or6c70	T	A	10: 129,710,092 (GRCm39)	D178V	probably damaging	Het
Pcdhb20	C	T	18: 37,638,437 (GRCm39)	A321V	probably damaging	Het
Pgr	C	A	9: 8,901,544 (GRCm39)	P359Q	probably damaging	Het
Pi4k2b	G	A	5: 52,908,031 (GRCm39)	V157I	probably benign	Het
Piezo2	C	T	18: 63,242,956 (GRCm39)	S621N	probably benign	Het
Plekhm1	A	C	11: 103,258,444 (GRCm39)	F1031L	probably damaging	Het
Pltp	A	G	2: 164,696,301 (GRCm39)	S124P	probably damaging	Het
Polr3gl	T	A	3: 96,487,154 (GRCm39)	E177V	probably benign	Het
Pstk	G	T	7: 130,973,024 (GRCm39)	R41L	possibly damaging	Het
Ptprk	C	A	10: 28,442,541 (GRCm39)		probably benign	Het
Rasgrp1	T	C	2: 117,119,158 (GRCm39)	E493G	probably benign	Het
Rusc2	C	T	4: 43,401,351 (GRCm39)		probably benign	Het
Sbno2	A	G	10: 79,911,090 (GRCm39)	F6S	probably benign	Het
Sh2d4a	A	G	8: 68,798,695 (GRCm39)	Y348C	probably damaging	Het
Sh3rf3	A	G	10: 58,939,992 (GRCm39)		probably null	Het
Sipa1l2	T	C	8: 126,177,125 (GRCm39)	E1163G	probably benign	Het
Strip1	G	C	3: 107,521,964 (GRCm39)	A738G	probably damaging	Het
Tdrkh	C	T	3: 94,333,299 (GRCm39)	R255C	probably benign	Het
Tex11	C	T	X: 100,059,191 (GRCm39)	V190I	possibly damaging	Het
Tln1	A	T	4: 43,555,911 (GRCm39)	M101K	possibly damaging	Het
Trav6-2	A	C	14: 52,905,028 (GRCm39)		probably benign	Het
Tspan11	A	T	6: 127,900,674 (GRCm39)	I82F	possibly damaging	Het
Ttn	T	C	2: 76,779,320 (GRCm39)	K1233E	unknown	Het
U2af2	T	A	7: 5,070,432 (GRCm39)		probably benign	Het
Usp29	A	T	7: 6,965,917 (GRCm39)	S587C	probably damaging	Het
Vmn1r235	A	T	17: 21,482,056 (GRCm39)	Q127L	probably damaging	Het
Vmn1r65	C	A	7: 6,011,503 (GRCm39)	A244S	probably damaging	Het
Vmn2r18	A	G	5: 151,508,462 (GRCm39)	S221P	probably damaging	Het
Zfp229	T	C	17: 21,964,828 (GRCm39)	S353P	probably damaging	Het
Zpld2	T	C	4: 133,930,150 (GRCm39)	K52E	probably benign	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
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'- TCACGACTGGGAGTCTCTTTG -3'
(R):5'- CTAGACAGGAGTGAACTTCGC -3'

Sequencing Primer
(F):5'- CACGACTGGGAGTCTCTTTGATTTC -3'
(R):5'- GAACTTCGCTCAGAAATTCCAG -3'

Posted On

2021-03-08