Mutagenetix > Incidental Mutation

Incidental Mutation 'R8244:Rtn4rl1'

640874

Institutional Source

Beutler Lab

Gene Symbol

Rtn4rl1

Ensembl Gene

ENSMUSG00000045287

Gene Name

reticulon 4 receptor-like 1

Synonyms

Ngr3, Ngrl2, Ngrh2

MMRRC Submission

067672-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R8244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75084819-75158595 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75156276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 236 (L236P)

Ref Sequence

ENSEMBL: ENSMUSP00000099572 (fasta)

Gene Model

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

AlphaFold

Q8K0S5

Predicted Effect

probably damaging
Transcript: ENSMUST00000102514
AA Change: L236P

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

SMART Domains

Protein: ENSMUSP00000099572
Gene: ENSMUSG00000045287
AA Change: L236P

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

Meta Mutation Damage Score

0.5160

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (44/45)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	C	7: 27,271,004 (GRCm39)	I133T	probably damaging	Het
Ahnak	C	T	19: 8,993,037 (GRCm39)	P4774S	probably benign	Het
Alg5	A	G	3: 54,646,221 (GRCm39)	I29V	probably benign	Het
Ankar	A	G	1: 72,690,183 (GRCm39)	I1216T	probably benign	Het
Ap5z1	A	T	5: 142,459,735 (GRCm39)	T462S	possibly damaging	Het
Apc2	A	T	10: 80,151,166 (GRCm39)	R2073S	probably damaging	Het
Apob	A	T	12: 8,060,548 (GRCm39)	E3010V	probably damaging	Het
Arid3c	T	G	4: 41,729,997 (GRCm39)	E66A	possibly damaging	Het
Atf7	A	G	15: 102,437,301 (GRCm39)	S54P	unknown	Het
Cbx3	C	T	6: 51,452,350 (GRCm39)	T55I	probably benign	Het
Clptm1	A	T	7: 19,372,916 (GRCm39)	F205I	possibly damaging	Het
Cramp1	T	A	17: 25,190,384 (GRCm39)	I1117F	probably damaging	Het
Dgkq	A	G	5: 108,796,578 (GRCm39)	*935Q	probably null	Het
Dock2	A	T	11: 34,586,280 (GRCm39)	F511I	probably damaging	Het
Efr3a	G	A	15: 65,687,217 (GRCm39)	R15H	probably damaging	Het
Ehmt2	A	G	17: 35,124,238 (GRCm39)	D385G	probably damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Gfpt1	T	A	6: 87,040,613 (GRCm39)		probably benign	Het
Gm21680	T	C	5: 26,173,983 (GRCm39)	E207G	probably damaging	Het
Igsf23	A	T	7: 19,675,798 (GRCm39)	C141S	possibly damaging	Het
Ktn1	A	T	14: 47,912,280 (GRCm39)	E349V	probably null	Het
Lrp1b	T	C	2: 41,396,794 (GRCm39)	D424G		Het
Lrrc9	A	G	12: 72,546,384 (GRCm39)	I1190V	probably benign	Het
Lztfl1	T	A	9: 123,541,514 (GRCm39)	I102F	probably damaging	Het
Mapk11	G	T	15: 89,030,007 (GRCm39)	T203K	possibly damaging	Het
Mgam	T	A	6: 40,727,520 (GRCm39)	I1315N	probably damaging	Het
Nf1	T	C	11: 79,331,750 (GRCm39)	M695T	probably benign	Het
Pdcd4	A	G	19: 53,895,965 (GRCm39)	T8A	probably benign	Het
Pramel27	T	C	4: 143,579,854 (GRCm39)	Y480H	probably damaging	Het
Ptx4	A	G	17: 25,341,839 (GRCm39)	K105E	possibly damaging	Het
Pxn	C	T	5: 115,690,302 (GRCm39)	P381L	probably damaging	Het
Sall3	G	A	18: 81,016,969 (GRCm39)	P320S	probably benign	Het
Sh2b2	G	T	5: 136,256,291 (GRCm39)	S247*	probably null	Het
Sim2	T	A	16: 93,910,222 (GRCm39)	V208E	probably damaging	Het
Slc44a4	T	C	17: 35,140,548 (GRCm39)	L247P	probably damaging	Het
Sox1	GGGCGGCGGCGGCGGCGG	GGGCGGCGGCGGCGG	8: 12,446,468 (GRCm39)		probably benign	Het
Tacc2	A	G	7: 130,330,406 (GRCm39)	D1937G	probably damaging	Het
Tmem131	T	C	1: 36,847,974 (GRCm39)	N1158S	probably benign	Het
Tns1	G	T	1: 73,976,410 (GRCm39)	A1146E	probably damaging	Het
Tom1l1	T	C	11: 90,548,647 (GRCm39)	E308G	probably benign	Het
Ttn	T	A	2: 76,659,051 (GRCm39)	K12262*	probably null	Het
Vps13b	G	T	15: 35,917,349 (GRCm39)	G3731V	probably damaging	Het
Wdr20	G	A	12: 110,760,076 (GRCm39)	E321K	probably benign	Het
Zfp516	G	T	18: 82,974,458 (GRCm39)	G219C	probably damaging	Het
Zfp979	A	T	4: 147,697,933 (GRCm39)	C259S	possibly damaging	Het
Zscan20	T	C	4: 128,479,759 (GRCm39)	T911A	probably benign	Het

Other mutations in Rtn4rl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01479:Rtn4rl1	APN	11	75,156,168 (GRCm39)	missense	probably damaging	1.00
IGL02161:Rtn4rl1	APN	11	75,156,666 (GRCm39)	missense	probably damaging	0.98
IGL02420:Rtn4rl1	APN	11	75,156,645 (GRCm39)	missense	probably damaging	0.98
IGL02641:Rtn4rl1	APN	11	75,156,650 (GRCm39)	missense	probably damaging	1.00
IGL02984:Rtn4rl1	UTSW	11	75,156,087 (GRCm39)	missense	probably benign	0.10
R0699:Rtn4rl1	UTSW	11	75,156,050 (GRCm39)	missense	probably benign	0.15
R0699:Rtn4rl1	UTSW	11	75,156,048 (GRCm39)	missense	possibly damaging	0.56
R1669:Rtn4rl1	UTSW	11	75,156,753 (GRCm39)	missense	probably benign
R1925:Rtn4rl1	UTSW	11	75,156,864 (GRCm39)	missense	probably benign	0.17
R2679:Rtn4rl1	UTSW	11	75,156,552 (GRCm39)	missense	probably benign	0.21
R4205:Rtn4rl1	UTSW	11	75,156,818 (GRCm39)	missense	probably damaging	1.00
R4205:Rtn4rl1	UTSW	11	75,156,809 (GRCm39)	missense	probably damaging	0.97
R6326:Rtn4rl1	UTSW	11	75,156,828 (GRCm39)	missense	possibly damaging	0.83
R6703:Rtn4rl1	UTSW	11	75,156,354 (GRCm39)	missense	probably benign	0.02
R7085:Rtn4rl1	UTSW	11	75,156,050 (GRCm39)	missense	probably benign	0.03
R7203:Rtn4rl1	UTSW	11	75,156,576 (GRCm39)	missense	possibly damaging	0.47
R7320:Rtn4rl1	UTSW	11	75,085,122 (GRCm39)	critical splice donor site	probably null
R7754:Rtn4rl1	UTSW	11	75,155,871 (GRCm39)	missense	probably benign
R8038:Rtn4rl1	UTSW	11	75,156,707 (GRCm39)	missense	possibly damaging	0.81
R8306:Rtn4rl1	UTSW	11	75,156,147 (GRCm39)	missense	probably damaging	1.00
R8679:Rtn4rl1	UTSW	11	75,156,099 (GRCm39)	missense	probably damaging	0.99
R9240:Rtn4rl1	UTSW	11	75,156,082 (GRCm39)	missense	probably damaging	0.97
Z1186:Rtn4rl1	UTSW	11	75,156,863 (GRCm39)	missense	probably benign
Z1187:Rtn4rl1	UTSW	11	75,156,863 (GRCm39)	missense	probably benign
Z1188:Rtn4rl1	UTSW	11	75,156,863 (GRCm39)	missense	probably benign
Z1189:Rtn4rl1	UTSW	11	75,156,863 (GRCm39)	missense	probably benign
Z1190:Rtn4rl1	UTSW	11	75,156,863 (GRCm39)	missense	probably benign
Z1191:Rtn4rl1	UTSW	11	75,156,863 (GRCm39)	missense	probably benign
Z1192:Rtn4rl1	UTSW	11	75,156,863 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATCGAGTACCTCCAAGATGACATC -3'
(R):5'- AGCTTCAGATCCTGGCCTTG -3'

Sequencing Primer
(F):5'- GTGGACCTGGTCAATCTCAGTCAC -3'
(R):5'- AGCTAGAGCCACGGAAC -3'

Posted On

2020-07-28