Mutagenetix > Incidental Mutation

Incidental Mutation 'R9638:Rtn4rl2'

725810

Institutional Source

Beutler Lab

Gene Symbol

Rtn4rl2

Ensembl Gene

ENSMUSG00000050896

Gene Name

reticulon 4 receptor-like 2

Synonyms

Ngrl3, Ngrh1, Ngr2

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.545) question?

Stock #

R9638 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84702268-84717054 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84710760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 168 (L168H)

Ref Sequence

ENSEMBL: ENSMUSP00000118362 (fasta)

Gene Model

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

AlphaFold

Q7M6Z0

Predicted Effect

probably damaging
Transcript: ENSMUST00000054514
AA Change: L162H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057725
Gene: ENSMUSG00000050896
AA Change: L162H

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

probably damaging
Transcript: ENSMUST00000151799
AA Change: L168H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118362
Gene: ENSMUSG00000050896
AA Change: L168H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	G	4: 53,092,806 (GRCm39)	E326A	probably damaging	Het
Aldh1a1	T	A	19: 20,614,100 (GRCm39)	N423K	probably benign	Het
Aldh4a1	T	A	4: 139,371,427 (GRCm39)	I447N	probably damaging	Het
Atg9b	T	C	5: 24,596,406 (GRCm39)	D170G	possibly damaging	Het
Bnc2	C	T	4: 84,332,492 (GRCm39)	V75M	probably damaging	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Ccdc162	C	A	10: 41,437,159 (GRCm39)	C1750F	probably benign	Het
Cdh10	T	A	15: 18,964,301 (GRCm39)	N154K	probably damaging	Het
Cdh22	T	C	2: 164,988,687 (GRCm39)	I223V	probably damaging	Het
Ces1b	T	A	8: 93,806,534 (GRCm39)	H4L	probably benign	Het
Cfap46	A	T	7: 139,209,763 (GRCm39)	F1806I	unknown	Het
Cwh43	T	A	5: 73,565,486 (GRCm39)	V17D	possibly damaging	Het
Ddx3y	C	T	Y: 1,263,599 (GRCm39)	G623D	probably benign	Het
Dtna	A	T	18: 23,744,122 (GRCm39)	I389L	probably benign	Het
F830016B08Rik	A	G	18: 60,432,956 (GRCm39)	D13G	probably benign	Het
Fam161b	T	C	12: 84,403,187 (GRCm39)	I148V	probably benign	Het
Fhip1a	T	A	3: 85,568,391 (GRCm39)	N1043Y	probably damaging	Het
Fli1	T	C	9: 32,388,020 (GRCm39)	Y23C	probably damaging	Het
Gimap6	A	G	6: 48,679,424 (GRCm39)	V204A	probably benign	Het
Ighv4-1	T	G	12: 113,911,904 (GRCm39)	R116S	probably damaging	Het
Isx	T	C	8: 75,619,566 (GRCm39)	L239P	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Krt81	T	C	15: 101,358,856 (GRCm39)	T299A	probably benign	Het
Lrrc30	A	G	17: 67,939,226 (GRCm39)	L118P	probably damaging	Het
Mapk8ip3	T	C	17: 25,118,023 (GRCm39)	T1290A	probably benign	Het
Mef2b	ACCCTCACCC	ACC	8: 70,619,506 (GRCm39)		probably null	Het
Meltf	G	A	16: 31,706,409 (GRCm39)	E298K	possibly damaging	Het
Muc16	T	A	9: 18,550,626 (GRCm39)	E5222D	probably benign	Het
Nin	T	C	12: 70,067,618 (GRCm39)	N2003S		Het
Or1e23	A	G	11: 73,407,875 (GRCm39)	I50T	probably benign	Het
Or2b4	G	A	17: 38,116,509 (GRCm39)	V158M	probably damaging	Het
Or51f1d	T	C	7: 102,701,018 (GRCm39)	L171P	probably damaging	Het
Palld	A	G	8: 62,002,788 (GRCm39)	V826A	unknown	Het
Paxbp1	C	A	16: 90,831,881 (GRCm39)	V336L	probably benign	Het
Paxbp1	T	A	16: 90,831,882 (GRCm39)	E335D	probably benign	Het
Por	C	A	5: 135,754,615 (GRCm39)	Q12K	unknown	Het
Pot1a	G	A	6: 25,750,106 (GRCm39)	Q519*	probably null	Het
Psd	GCC	GC	19: 46,301,841 (GRCm39)		probably null	Het
Ptger4	A	G	15: 5,264,693 (GRCm39)	F321S	probably damaging	Het
Ptk7	A	G	17: 46,890,519 (GRCm39)	Y438H	possibly damaging	Het
Rimklb	A	T	6: 122,433,558 (GRCm39)	N254K	probably benign	Het
Rpn2	A	T	2: 157,125,566 (GRCm39)	T26S	probably benign	Het
Scel	G	T	14: 103,779,409 (GRCm39)	A127S	possibly damaging	Het
Sema4a	T	A	3: 88,357,066 (GRCm39)	N302Y	probably damaging	Het
Supt3	A	G	17: 45,234,133 (GRCm39)	T50A	possibly damaging	Het
Upf3a	G	A	8: 13,848,343 (GRCm39)	A380T	probably benign	Het
Zbtb14	G	A	17: 69,695,375 (GRCm39)	E358K	probably damaging	Het
Zfp677	A	T	17: 21,618,056 (GRCm39)	H371L	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
R3857:Rtn4rl2	UTSW	2	84,710,730 (GRCm39)	critical splice donor site	probably null
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
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'- ACAGACTTTGGGGAGTGTGC -3'
(R):5'- TGCAGGCCCTAGAAGAACTG -3'

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

Posted On

2022-09-12