Mutagenetix > Incidental Mutation

Incidental Mutation 'R3857:Rtn4rl2'

276203

Institutional Source

Beutler Lab

Gene Symbol

Rtn4rl2

Ensembl Gene

ENSMUSG00000050896

Gene Name

reticulon 4 receptor-like 2

Synonyms

Ngrl3, Ngrh1, Ngr2

MMRRC Submission

040785-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.545) question?

Stock #

R3857 (G1)

Quality Score

129

Status

Validated

Chromosome

Chromosomal Location

84702268-84717054 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 84710730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054514] [ENSMUST00000151799]

AlphaFold

Q7M6Z0

Predicted Effect

probably null
Transcript: ENSMUST00000054514

SMART Domains

Protein: ENSMUSP00000057725
Gene: ENSMUSG00000050896

Domain	Start	End	E-Value	Type
LRRNT	30	64	1.45e-1	SMART
LRR	63	82	2.47e1	SMART
LRR	83	104	6.58e0	SMART
LRR	105	129	2.32e-1	SMART
LRR_TYP	130	153	2.4e-3	SMART
LRR_TYP	154	177	2.71e-2	SMART
LRR_TYP	178	201	1.36e-2	SMART
LRR_TYP	202	225	4.72e-2	SMART
LRR	226	249	1.25e-1	SMART
LRRCT	261	311	3.1e-7	SMART
low complexity region	367	378	N/A	INTRINSIC
low complexity region	405	420	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151759

Predicted Effect

probably null
Transcript: ENSMUST00000151799

SMART Domains

Protein: ENSMUSP00000118362
Gene: ENSMUSG00000050896

Domain	Start	End	E-Value	Type
LRRNT	36	70	1.45e-1	SMART
LRR	69	88	2.47e1	SMART
LRR	89	110	6.58e0	SMART
LRR	111	135	2.32e-1	SMART
LRR_TYP	136	159	2.4e-3	SMART
LRR_TYP	160	183	2.71e-2	SMART
LRR_TYP	184	207	1.36e-2	SMART
LRR_TYP	208	231	4.72e-2	SMART
LRR	232	255	1.25e-1	SMART
LRRCT	267	317	3.1e-7	SMART
low complexity region	373	384	N/A	INTRINSIC
low complexity region	411	426	N/A	INTRINSIC

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 99.5%
3x: 98.6%
10x: 96.7%
20x: 92.4%

Validation Efficiency

98% (41/42)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bdkrb2	T	C	12: 105,558,698 (GRCm39)	V313A	probably benign	Het
Ccng1	A	G	11: 40,644,660 (GRCm39)	L79P	probably damaging	Het
Celf1	A	G	2: 90,843,086 (GRCm39)	E411G	probably damaging	Het
Cps1	A	G	1: 67,207,437 (GRCm39)	Y582C	probably damaging	Het
Dnah8	A	G	17: 30,882,396 (GRCm39)	D656G	probably damaging	Het
Eif1ad17	T	A	12: 87,979,016 (GRCm39)	D133E	unknown	Het
Erc2	A	G	14: 28,197,599 (GRCm39)		probably benign	Het
Ercc8	A	G	13: 108,330,648 (GRCm39)	E395G	possibly damaging	Het
Ezhip	A	G	X: 5,994,710 (GRCm39)	S102P	possibly damaging	Het
F13a1	A	G	13: 37,209,668 (GRCm39)	L99P	probably benign	Het
Fzd3	A	T	14: 65,477,288 (GRCm39)	C89S	possibly damaging	Het
Gse1	T	A	8: 121,297,872 (GRCm39)		probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hs3st1	G	A	5: 39,772,256 (GRCm39)	T129I	probably damaging	Het
Irx1	A	T	13: 72,111,577 (GRCm39)	Y11N	possibly damaging	Het
Kdm3b	T	A	18: 34,966,440 (GRCm39)	I1658N	probably benign	Het
Mtmr4	G	A	11: 87,488,088 (GRCm39)	V24M	probably damaging	Het
Nfatc1	T	C	18: 80,708,490 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,971,795 (GRCm39)		probably benign	Het
Pcna	A	T	2: 132,091,541 (GRCm39)	S261T	probably benign	Het
Pigr	T	C	1: 130,774,998 (GRCm39)	V475A	probably benign	Het
Pitpnc1	T	C	11: 107,211,631 (GRCm39)		probably null	Het
Psph	A	G	5: 129,848,540 (GRCm39)	M47T	probably damaging	Het
Pth2r	A	T	1: 65,361,206 (GRCm39)	I52F	probably damaging	Het
Senp6	A	G	9: 79,999,603 (GRCm39)	T7A	possibly damaging	Het
Slc4a1	A	T	11: 102,247,947 (GRCm39)	V349E	probably benign	Het
Spice1	T	C	16: 44,175,806 (GRCm39)	S2P	probably damaging	Het
Spty2d1	G	A	7: 46,648,044 (GRCm39)	T295I	probably benign	Het
Thsd7a	C	T	6: 12,555,225 (GRCm39)	G220S	probably benign	Het
Togaram1	A	G	12: 65,027,633 (GRCm39)	Q874R	possibly damaging	Het
Ttn	T	A	2: 76,739,319 (GRCm39)	D3740V	probably benign	Het
Unc13c	G	T	9: 73,606,390 (GRCm39)	Y1323*	probably null	Het
Vmn1r19	A	T	6: 57,382,098 (GRCm39)	Y217F	possibly damaging	Het
Zfp101	G	T	17: 33,601,405 (GRCm39)	S79*	probably null	Het
Zfp512	G	T	5: 31,630,184 (GRCm39)	R222L	probably damaging	Het
Zfyve16	A	T	13: 92,631,479 (GRCm39)	I1372N	probably damaging	Het

Other mutations in Rtn4rl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0626:Rtn4rl2	UTSW	2	84,710,763 (GRCm39)	missense	probably damaging	0.99
R0837:Rtn4rl2	UTSW	2	84,711,036 (GRCm39)	missense	probably damaging	1.00
R1392:Rtn4rl2	UTSW	2	84,710,856 (GRCm39)	missense	probably damaging	1.00
R1392:Rtn4rl2	UTSW	2	84,710,856 (GRCm39)	missense	probably damaging	1.00
R3433:Rtn4rl2	UTSW	2	84,702,444 (GRCm39)	missense	probably damaging	1.00
R3858:Rtn4rl2	UTSW	2	84,710,730 (GRCm39)	critical splice donor site	probably null
R5044:Rtn4rl2	UTSW	2	84,702,846 (GRCm39)	missense	probably damaging	1.00
R5936:Rtn4rl2	UTSW	2	84,710,775 (GRCm39)	missense	probably damaging	1.00
R6800:Rtn4rl2	UTSW	2	84,710,967 (GRCm39)	missense	probably damaging	1.00
R7755:Rtn4rl2	UTSW	2	84,702,807 (GRCm39)	missense	possibly damaging	0.82
R8375:Rtn4rl2	UTSW	2	84,711,033 (GRCm39)	missense	possibly damaging	0.88
R8416:Rtn4rl2	UTSW	2	84,702,951 (GRCm39)	missense	probably damaging	1.00
R8805:Rtn4rl2	UTSW	2	84,702,558 (GRCm39)	missense	probably damaging	1.00
R9638:Rtn4rl2	UTSW	2	84,710,760 (GRCm39)	missense	probably damaging	1.00
R9749:Rtn4rl2	UTSW	2	84,702,954 (GRCm39)	missense	probably damaging	1.00
R9751:Rtn4rl2	UTSW	2	84,711,039 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTACAGACTTTGGGGAGTGTGC -3'
(R):5'- AACTGGACCTCGGTGACAAC -3'

Sequencing Primer
(F):5'- GGACAGACCCACAGGCAG -3'
(R):5'- TGACAACCGGCACCTGC -3'

Posted On

2015-04-06