Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01479:Rtn4rl1'

88547

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rtn4rl1

Ensembl Gene

ENSMUSG00000045287

Gene Name

reticulon 4 receptor-like 1

Synonyms

Ngrl2, Ngrh2, Ngr3

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

IGL01479

Quality Score

Status

Chromosome

Chromosomal Location

75193783-75267769 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75265342 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 200 (D200G)

Ref Sequence

ENSEMBL: ENSMUSP00000099572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102514]

AlphaFold

Q8K0S5

Predicted Effect

probably damaging
Transcript: ENSMUST00000102514
AA Change: D200G

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

SMART Domains

Protein: ENSMUSP00000099572
Gene: ENSMUSG00000045287
AA Change: D200G

Domain	Start	End	E-Value	Type
LRRNT	24	58	2.74e-2	SMART
LRR	76	98	5.57e1	SMART
LRR	99	123	1.73e0	SMART
LRR	124	147	2.14e0	SMART
LRR_TYP	148	171	1.1e-2	SMART
LRR_TYP	172	195	6.88e-4	SMART
LRR	196	219	2.49e-1	SMART
LRR	220	243	5.72e0	SMART
LRRCT	255	305	8.21e-2	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display fatty change in the liver, bile duct lesions in females and hepatocytes with enlarged vacuoles and nuclei in the male. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,272,935	K225R	probably benign	Het
Amn	C	A	12: 111,271,793	A47E	probably damaging	Het
Arhgef1	T	C	7: 24,912,603	I137T	probably benign	Het
Cep57l1	T	C	10: 41,728,639	K165E	possibly damaging	Het
Chfr	A	G	5: 110,144,993		probably benign	Het
Dnah9	A	G	11: 65,955,717	V2923A	probably benign	Het
Dnaja2	T	C	8: 85,553,951	Y35C	probably damaging	Het
Dnajc2	T	C	5: 21,757,893	T481A	probably damaging	Het
Foxred2	A	G	15: 77,952,289		probably null	Het
Gin1	C	T	1: 97,792,372	T364I	possibly damaging	Het
Glt8d2	C	T	10: 82,660,736	V163I	probably damaging	Het
Gm10118	T	C	10: 63,926,820		probably benign	Het
Hps5	C	T	7: 46,762,942		probably null	Het
Kdm4c	A	G	4: 74,343,501	K638E	probably benign	Het
L3mbtl2	A	G	15: 81,676,392	T285A	probably benign	Het
Mab21l1	A	G	3: 55,783,832	Y280C	probably damaging	Het
Mcoln2	T	A	3: 146,175,652		probably benign	Het
Myo9b	G	T	8: 71,359,342	R1926L	probably damaging	Het
Rrp12	A	G	19: 41,865,202	V1251A	probably benign	Het
Sbsn	G	A	7: 30,752,357	A266T	possibly damaging	Het
Sgca	A	T	11: 94,963,378	C335*	probably null	Het
Spag1	T	C	15: 36,233,199		probably benign	Het
Sult6b1	A	T	17: 78,905,576	V82D	probably benign	Het
Tigit	T	C	16: 43,659,522	T137A	probably benign	Het
Tmem125	G	A	4: 118,541,623	Q204*	probably null	Het
Tmem59l	C	T	8: 70,486,098	R111Q	probably benign	Het
Vmn2r95	G	A	17: 18,443,862	G448R	probably damaging	Het
Zfp64	T	C	2: 168,951,679	H49R	probably damaging	Het

Other mutations in Rtn4rl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02161:Rtn4rl1	APN	11	75265840	missense	probably damaging	0.98
IGL02420:Rtn4rl1	APN	11	75265819	missense	probably damaging	0.98
IGL02641:Rtn4rl1	APN	11	75265824	missense	probably damaging	1.00
IGL02984:Rtn4rl1	UTSW	11	75265261	missense	probably benign	0.10
R0699:Rtn4rl1	UTSW	11	75265222	missense	possibly damaging	0.56
R0699:Rtn4rl1	UTSW	11	75265224	missense	probably benign	0.15
R1669:Rtn4rl1	UTSW	11	75265927	missense	probably benign
R1925:Rtn4rl1	UTSW	11	75266038	missense	probably benign	0.17
R2679:Rtn4rl1	UTSW	11	75265726	missense	probably benign	0.21
R4205:Rtn4rl1	UTSW	11	75265983	missense	probably damaging	0.97
R4205:Rtn4rl1	UTSW	11	75265992	missense	probably damaging	1.00
R6326:Rtn4rl1	UTSW	11	75266002	missense	possibly damaging	0.83
R6703:Rtn4rl1	UTSW	11	75265528	missense	probably benign	0.02
R7085:Rtn4rl1	UTSW	11	75265224	missense	probably benign	0.03
R7203:Rtn4rl1	UTSW	11	75265750	missense	possibly damaging	0.47
R7320:Rtn4rl1	UTSW	11	75194296	critical splice donor site	probably null
R7754:Rtn4rl1	UTSW	11	75265045	missense	probably benign
R8038:Rtn4rl1	UTSW	11	75265881	missense	possibly damaging	0.81
R8244:Rtn4rl1	UTSW	11	75265450	missense	probably damaging	1.00
R8306:Rtn4rl1	UTSW	11	75265321	missense	probably damaging	1.00
R8679:Rtn4rl1	UTSW	11	75265273	missense	probably damaging	0.99
R9240:Rtn4rl1	UTSW	11	75265256	missense	probably damaging	0.97
Z1186:Rtn4rl1	UTSW	11	75266037	missense	probably benign
Z1187:Rtn4rl1	UTSW	11	75266037	missense	probably benign
Z1188:Rtn4rl1	UTSW	11	75266037	missense	probably benign
Z1189:Rtn4rl1	UTSW	11	75266037	missense	probably benign
Z1190:Rtn4rl1	UTSW	11	75266037	missense	probably benign
Z1191:Rtn4rl1	UTSW	11	75266037	missense	probably benign
Z1192:Rtn4rl1	UTSW	11	75266037	missense	probably benign

Posted On

2013-11-18