Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02420:Rtn4rl1'

292644

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rtn4rl1

Ensembl Gene

ENSMUSG00000045287

Gene Name

reticulon 4 receptor-like 1

Synonyms

Ngr3, Ngrl2, Ngrh2

Accession Numbers

Essential gene?

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

Stock #

IGL02420

Quality Score

Status

Chromosome

Chromosomal Location

75084819-75158595 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75156645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 359 (N359S)

Ref Sequence

ENSEMBL: ENSMUSP00000099572 (fasta)

Gene Model

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

AlphaFold

Q8K0S5

Predicted Effect

probably damaging
Transcript: ENSMUST00000102514
AA Change: N359S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099572
Gene: ENSMUSG00000045287
AA Change: N359S

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,187,494 (GRCm39)	N136S	probably damaging	Het
Adcy8	A	G	15: 64,659,303 (GRCm39)	S496P	probably damaging	Het
Agbl3	T	A	6: 34,762,242 (GRCm39)	S81T	possibly damaging	Het
Apobec1	A	T	6: 122,558,531 (GRCm39)	Y75N	probably benign	Het
Asic2	A	G	11: 80,772,479 (GRCm39)	L517P	probably benign	Het
Atp8a1	A	G	5: 67,840,126 (GRCm39)	S752P	probably damaging	Het
Blm	T	C	7: 80,145,754 (GRCm39)	Y775C	probably damaging	Het
C1qtnf5	T	C	9: 44,019,901 (GRCm39)	I175T	probably benign	Het
Ccdc81	G	A	7: 89,524,946 (GRCm39)	T545I	probably benign	Het
Ccdc88b	T	C	19: 6,834,317 (GRCm39)	E174G	probably damaging	Het
Chl1	G	A	6: 103,692,330 (GRCm39)	V1066M	probably damaging	Het
Cntn6	T	A	6: 104,823,103 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyren	T	C	6: 34,851,404 (GRCm39)	Y150C	probably damaging	Het
Cysrt1	T	C	2: 25,129,360 (GRCm39)	I51V	probably benign	Het
Dnah7a	T	C	1: 53,725,702 (GRCm39)	N69S	probably benign	Het
Fam83d	T	C	2: 158,627,655 (GRCm39)	L448P	probably benign	Het
Gm9631	G	A	11: 121,834,478 (GRCm39)			Het
Hmcn1	T	C	1: 150,598,175 (GRCm39)	Y1709C	probably damaging	Het
Inppl1	G	A	7: 101,481,526 (GRCm39)		probably benign	Het
Iqcc	T	C	4: 129,510,748 (GRCm39)	T256A	probably benign	Het
Itprid2	T	C	2: 79,465,986 (GRCm39)	S35P	probably damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Lyz1	A	T	10: 117,124,535 (GRCm39)	C134S	probably damaging	Het
Mpzl3	T	C	9: 44,977,815 (GRCm39)	I141T	possibly damaging	Het
Mterf1a	T	C	5: 3,941,047 (GRCm39)	N274D	probably damaging	Het
Myo18a	T	A	11: 77,709,519 (GRCm39)	V543D	possibly damaging	Het
Myo18b	A	T	5: 112,975,852 (GRCm39)	D1332E	possibly damaging	Het
Or2r11	A	G	6: 42,437,110 (GRCm39)	V281A	probably benign	Het
Pcdh15	A	T	10: 74,138,938 (GRCm39)	D333V	probably damaging	Het
Plekha7	A	G	7: 115,757,469 (GRCm39)	Y494H	probably damaging	Het
Plekhg1	A	G	10: 3,914,106 (GRCm39)	N1276S	probably damaging	Het
Ppig	T	C	2: 69,562,571 (GRCm39)	V5A	probably benign	Het
Prag1	A	T	8: 36,614,580 (GRCm39)		probably benign	Het
Prom1	T	C	5: 44,220,496 (GRCm39)	N84S	probably benign	Het
Ptprh	T	A	7: 4,583,929 (GRCm39)	Y221F	probably damaging	Het
Qsox2	A	G	2: 26,110,731 (GRCm39)	Y162H	probably benign	Het
Rab2a	C	T	4: 8,572,553 (GRCm39)	T49M	possibly damaging	Het
Ring1	A	G	17: 34,242,122 (GRCm39)	S96P	possibly damaging	Het
Ripk3	A	G	14: 56,022,691 (GRCm39)	F411S	probably benign	Het
Rock1	T	C	18: 10,070,619 (GRCm39)		probably null	Het
Sufu	A	G	19: 46,413,481 (GRCm39)	T76A	probably damaging	Het
Sugct	C	A	13: 17,627,053 (GRCm39)	V267F	probably damaging	Het
Tcf4	A	T	18: 69,697,210 (GRCm39)	R29W	probably damaging	Het
Tnfsf18	A	T	1: 161,331,158 (GRCm39)	I103L	probably benign	Het
Vwf	A	G	6: 125,654,879 (GRCm39)	E2525G	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
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
R8244:Rtn4rl1	UTSW	11	75,156,276 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16