Mutagenetix > Incidental Mutation

Incidental Mutation 'R7748:Rtn1'

597040

Institutional Source

Beutler Lab

Gene Symbol

Rtn1

Ensembl Gene

ENSMUSG00000021087

Gene Name

reticulon 1

Synonyms

Rtn1-c, 0710005K15Rik, Nsp, Rtn1-b, Rtn1-a, 4930441F12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7748 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72211752-72409054 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72216926 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 744 (V744I)

Ref Sequence

ENSEMBL: ENSMUSP00000077594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021497] [ENSMUST00000078505] [ENSMUST00000137990]

AlphaFold

Q8K0T0

Predicted Effect

probably benign
Transcript: ENSMUST00000021497
AA Change: V172I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000021497
Gene: ENSMUSG00000021087
AA Change: V172I

Domain	Start	End	E-Value	Type
Pfam:Reticulon	21	191	1.2e-62	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078505
AA Change: V744I

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000077594
Gene: ENSMUSG00000021087
AA Change: V744I

Domain	Start	End	E-Value	Type
low complexity region	135	152	N/A	INTRINSIC
low complexity region	217	226	N/A	INTRINSIC
low complexity region	327	341	N/A	INTRINSIC
low complexity region	438	448	N/A	INTRINSIC
low complexity region	473	480	N/A	INTRINSIC
low complexity region	574	586	N/A	INTRINSIC
Pfam:Reticulon	593	757	2.2e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137990
AA Change: V217I

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120033
Gene: ENSMUSG00000021087
AA Change: V217I

Domain	Start	End	E-Value	Type
low complexity region	11	32	N/A	INTRINSIC
low complexity region	38	50	N/A	INTRINSIC
Pfam:Reticulon	66	236	2.3e-61	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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 family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. This gene is considered to be a specific marker for neurological diseases and cancer, and is a potential molecular target for therapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]

Allele List at MGI

Other mutations in this stock

Total: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 131,361,792	L103F	probably benign	Het
4932438A13Rik	A	G	3: 36,959,335		probably null	Het
5330417H12Rik	A	G	7: 107,624,558	L103P	unknown	Het
Actb	T	C	5: 142,904,695	I151V	probably benign	Het
Adcy6	T	A	15: 98,604,556	H59L	probably benign	Het
Adss	G	C	1: 177,772,202	S272*	probably null	Het
Aga	A	T	8: 53,511,805	M1L	possibly damaging	Het
Anxa5	G	A	3: 36,465,331	T3M	probably damaging	Het
Arhgap45	A	T	10: 80,016,932		probably benign	Het
Atp6v0a2	A	T	5: 124,716,496	H639L	probably benign	Het
BC005537	C	T	13: 24,803,399	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 54,884,379		probably benign	Het
Bod1l	A	C	5: 41,832,340	S347A	probably damaging	Het
Calcoco1	T	C	15: 102,719,561	D46G	probably damaging	Het
Camk1	T	C	6: 113,340,328	E60G	probably damaging	Het
Capza1	A	T	3: 104,825,405		probably null	Het
Ccdc18	T	A	5: 108,149,041		probably null	Het
Cdh20	G	A	1: 104,941,299	A172T	probably damaging	Het
Cdk4	C	T	10: 127,064,429	A65V	possibly damaging	Het
Cftr	T	C	6: 18,277,889		probably null	Het
Chd3	T	C	11: 69,355,633	M1092V	probably benign	Het
Chd6	A	T	2: 160,966,619	H1558Q	probably benign	Het
Chil1	A	G	1: 134,189,228	H318R	probably benign	Het
Cps1	A	G	1: 67,139,806	Y59C	probably damaging	Het
Cyb5r4	T	C	9: 87,032,381	V111A	probably damaging	Het
D430042O09Rik	A	T	7: 125,829,801	M558L	probably benign	Het
Ddx39b	G	A	17: 35,252,750	V291M	probably damaging	Het
Dhx57	A	G	17: 80,265,117	F709S	probably damaging	Het
Eef1b2	A	T	1: 63,177,865	K64N	probably damaging	Het
Fam135a	A	G	1: 24,028,969	S940P	probably benign	Het
Fam234b	T	A	6: 135,209,351	V119E	probably damaging	Het
Fbxo46	G	C	7: 19,136,533	C359S	probably damaging	Het
Fkbp14	C	A	6: 54,595,520		probably benign	Het
Fmn2	T	A	1: 174,666,649	V1243E	probably damaging	Het
Fsbp	C	A	4: 11,579,924	T64K	probably damaging	Het
Fscb	A	T	12: 64,474,407	M95K	probably benign	Het
Fyb	T	G	15: 6,638,826	V500G	probably damaging	Het
G2e3	A	G	12: 51,371,667	N615S	probably benign	Het
Gart	T	C	16: 91,630,652	D486G	possibly damaging	Het
Gas2l2	T	A	11: 83,422,398	D696V	probably benign	Het
Glmn	C	T	5: 107,562,244		probably null	Het
Gm47985	A	T	1: 151,182,974	D122V	probably damaging	Het
Gm49333	A	T	16: 20,633,084	D407V	probably damaging	Het
Gm7168	A	G	17: 13,948,652	K94E	probably benign	Het
Gm996	T	A	2: 25,578,959	E313D	possibly damaging	Het
Gnai2	T	C	9: 107,615,735	H323R		Het
Helz2	C	T	2: 181,234,531	R1390H	probably damaging	Het
Igf2bp1	T	C	11: 95,967,587	M453V	probably benign	Het
Ighv3-1	C	T	12: 113,964,650	V30M	probably damaging	Het
Inpp5a	A	T	7: 139,574,995	R343S	probably damaging	Het
Itga8	T	A	2: 12,230,239	I403F	possibly damaging	Het
Krt33a	C	T	11: 100,011,602	R404H	probably benign	Het
Krt34	T	A	11: 100,038,938	E244V	probably damaging	Het
Krt42	T	C	11: 100,266,966	E224G	probably damaging	Het
Krtap5-2	TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	TCCACAGGAACTACA	7: 142,175,108		probably benign	Het
Lama1	T	C	17: 67,750,590	L553P		Het
Lcn9	T	A	2: 25,824,914	*179K	probably null	Het
Lrrc2	T	G	9: 110,980,931	M345R	possibly damaging	Het
March11	T	C	15: 26,387,830	V257A	probably damaging	Het
Masp2	T	C	4: 148,605,706	I224T	probably benign	Het
Mpz	A	T	1: 171,159,940		probably null	Het
Mtr	C	T	13: 12,227,839	A442T	probably benign	Het
Muc5b	A	G	7: 141,847,805	K596R	unknown	Het
Myo15	T	G	11: 60,504,901	F1397C		Het
Ncor2	T	C	5: 125,109,967	I173V	unknown	Het
Ngly1	T	A	14: 16,290,820	I434K	possibly damaging	Het
Notch2	A	G	3: 98,138,484	H1655R	possibly damaging	Het
Notum	C	T	11: 120,654,801	A390T	probably damaging	Het
Olfr381	T	G	11: 73,486,168	I219L	probably benign	Het
Olfr519	T	C	7: 108,894,078	T115A	probably benign	Het
Pds5a	T	A	5: 65,619,666	I51F	possibly damaging	Het
Pdzd2	C	A	15: 12,385,786	R966L	possibly damaging	Het
Plk3	T	C	4: 117,131,728	Y278C	probably damaging	Het
Plxna1	C	G	6: 89,337,352		probably null	Het
Plxna1	T	A	6: 89,337,353		probably null	Het
Ppp4r4	G	A	12: 103,605,061		probably null	Het
Pramel6	T	A	2: 87,508,699	V81E	probably damaging	Het
Prdm2	T	C	4: 143,135,889	E277G	possibly damaging	Het
Prkg1	T	A	19: 30,993,091	I222F	possibly damaging	Het
Proser3	A	T	7: 30,540,072	S536T	possibly damaging	Het
Prrt4	C	A	6: 29,177,191	G193V	probably damaging	Het
Ptpn21	A	T	12: 98,688,772	H645Q	probably benign	Het
Ptprd	T	C	4: 76,099,504	I744V	probably null	Het
Rad54l2	A	G	9: 106,719,034	V235A	possibly damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rgs22	C	T	15: 36,122,269		probably null	Het
Rtcb	A	T	10: 85,941,968	D447E	probably benign	Het
Scfd1	T	G	12: 51,389,357	I96M	probably benign	Het
Serpina3b	T	C	12: 104,130,463	M1T	probably null	Het
Slc1a4	T	C	11: 20,332,252	Y74C	probably damaging	Het
Slc9b2	A	T	3: 135,326,179	I267F	possibly damaging	Het
Sorcs2	A	T	5: 36,229,175	M173K	possibly damaging	Het
Sparc	T	C	11: 55,398,600	I226V	probably benign	Het
Spata22	T	G	11: 73,336,254	I98S	probably null	Het
Spef2	C	T	15: 9,652,945	V917M	probably damaging	Het
Sspo	C	A	6: 48,449,465	C139*	probably null	Het
Tenm4	A	G	7: 96,894,702	D2012G	probably damaging	Het
Tgm5	G	A	2: 121,052,808	R351C	probably damaging	Het
Tmem145	G	A	7: 25,307,328	W82*	probably null	Het
Tmem159	A	T	7: 120,115,479	I64F	possibly damaging	Het
Topors	T	A	4: 40,262,654	D210V	probably damaging	Het
Tssk4	A	T	14: 55,651,112	H146L	probably damaging	Het
Unc93b1	T	A	19: 3,935,250	D19E	unknown	Het
Usp17lc	A	G	7: 103,418,481	T328A	probably damaging	Het
Utrn	A	G	10: 12,614,508	Y43H	probably benign	Het
Vmn1r25	T	A	6: 57,978,564	I247F	probably damaging	Het
Vmn2r78	A	T	7: 86,921,135	Q287L	probably benign	Het
Vps13c	T	A	9: 67,963,089	I3170N	probably benign	Het
Zfc3h1	T	A	10: 115,400,815	M398K	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp773	T	C	7: 7,132,908	R230G	probably benign	Het

Other mutations in Rtn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Rtn1	APN	12	72408511	missense	probably benign	0.18
IGL01335:Rtn1	APN	12	72308350	missense	probably benign
IGL01394:Rtn1	APN	12	72308416	missense	probably benign	0.00
IGL01551:Rtn1	APN	12	72216935	missense	possibly damaging	0.63
IGL01865:Rtn1	APN	12	72219300	missense	probably damaging	1.00
IGL02585:Rtn1	APN	12	72308155	critical splice donor site	probably null
PIT4802001:Rtn1	UTSW	12	72304326	missense	probably benign	0.21
R0104:Rtn1	UTSW	12	72308845	missense	probably damaging	0.99
R0866:Rtn1	UTSW	12	72308382	nonsense	probably null
R1099:Rtn1	UTSW	12	72304467	splice site	probably null
R1438:Rtn1	UTSW	12	72304413	missense	probably damaging	0.98
R1610:Rtn1	UTSW	12	72219279	missense	possibly damaging	0.90
R1694:Rtn1	UTSW	12	72223524	missense	probably damaging	1.00
R1869:Rtn1	UTSW	12	72308168	missense	probably damaging	1.00
R1888:Rtn1	UTSW	12	72236533	intron	probably benign
R1889:Rtn1	UTSW	12	72304410	missense	possibly damaging	0.87
R1892:Rtn1	UTSW	12	72212563	missense	probably damaging	1.00
R2418:Rtn1	UTSW	12	72304278	missense	probably benign
R2760:Rtn1	UTSW	12	72408362	missense	probably benign	0.00
R2973:Rtn1	UTSW	12	72223389	missense	probably damaging	1.00
R4567:Rtn1	UTSW	12	72212487	utr 3 prime	probably benign
R4880:Rtn1	UTSW	12	72217458	missense	possibly damaging	0.88
R4945:Rtn1	UTSW	12	72217484	missense	probably damaging	1.00
R6183:Rtn1	UTSW	12	72408491	missense	probably benign	0.09
R6493:Rtn1	UTSW	12	72308329	missense	probably damaging	0.99
R6547:Rtn1	UTSW	12	72308761	missense	possibly damaging	0.59
R6602:Rtn1	UTSW	12	72219318	missense	probably damaging	0.99
R7474:Rtn1	UTSW	12	72308390	missense	possibly damaging	0.87
R7615:Rtn1	UTSW	12	72304143	missense	probably damaging	1.00
R7697:Rtn1	UTSW	12	72408377	missense	probably benign	0.32
R7754:Rtn1	UTSW	12	72308429	missense	probably damaging	0.96
R7834:Rtn1	UTSW	12	72304032	missense	probably damaging	0.99
R7970:Rtn1	UTSW	12	72308874	missense	probably benign	0.06
R8290:Rtn1	UTSW	12	72308419	missense	probably benign	0.07
R8311:Rtn1	UTSW	12	72304064	missense	probably damaging	1.00
R8440:Rtn1	UTSW	12	72223399	missense	probably damaging	1.00
R9393:Rtn1	UTSW	12	72216812	nonsense	probably null
R9579:Rtn1	UTSW	12	72223515	missense	probably damaging	0.99
R9632:Rtn1	UTSW	12	72304187	missense	probably damaging	1.00
Z1177:Rtn1	UTSW	12	72308864	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CACTATGTAACTTACTTTGCCACG -3'
(R):5'- CATCTTGAAAGGGCACAGTGC -3'

Sequencing Primer
(F):5'- GTAACTTACTTTGCCACGACGGTG -3'
(R):5'- GCACAGTGCATCCTCATTATCTACAG -3'

Posted On

2019-11-26