Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02995:Ror1'

407112

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ror1

Ensembl Gene

ENSMUSG00000035305

Gene Name

receptor tyrosine kinase-like orphan receptor 1

Synonyms

Ntrkr1, 2810404D04Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02995

Quality Score

Status

Chromosome

Chromosomal Location

99952988-100301962 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 100191722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039630]

AlphaFold

Q9Z139

Predicted Effect

probably benign
Transcript: ENSMUST00000039630

SMART Domains

Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
IGc2	70	138	8.37e-15	SMART
Pfam:Fz	170	290	4.9e-13	PFAM
KR	311	393	7.57e-47	SMART
transmembrane domain	404	426	N/A	INTRINSIC
TyrKc	473	746	2.46e-137	SMART
low complexity region	753	762	N/A	INTRINSIC
low complexity region	817	828	N/A	INTRINSIC
low complexity region	849	864	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a receptor tyrosine kinase that has been implicated in nervous system development, specifically in the maintenance of neural progenitor cell fate, neurite extension and synapse formation. The encoded protein, likely a pseudokinase that lacks catalytic activity, may also regulate adipogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for some disruptions in this gene die within the first day after birth from respiratory defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	G	17: 48,470,456 (GRCm39)	V175A	probably benign	Het
Adam19	G	A	11: 46,027,176 (GRCm39)	R603Q	probably benign	Het
Adam25	T	C	8: 41,206,760 (GRCm39)	S9P	probably benign	Het
Akr1e1	T	A	13: 4,647,477 (GRCm39)		probably benign	Het
Ano8	C	T	8: 71,935,761 (GRCm39)	V286I	possibly damaging	Het
Baz1a	C	T	12: 54,947,232 (GRCm39)	R1139H	probably damaging	Het
Brca2	T	A	5: 150,452,953 (GRCm39)	L29H	probably damaging	Het
Btaf1	T	C	19: 36,958,535 (GRCm39)		probably benign	Het
C8b	T	A	4: 104,658,525 (GRCm39)		probably benign	Het
Cep295	A	T	9: 15,244,608 (GRCm39)	S1283T	probably damaging	Het
Cyp1a2	T	C	9: 57,584,511 (GRCm39)	*514W	probably null	Het
D2hgdh	G	T	1: 93,757,558 (GRCm39)	D158Y	probably damaging	Het
Dennd1b	G	A	1: 139,008,980 (GRCm39)	V228M	probably damaging	Het
Fgd6	T	A	10: 93,881,342 (GRCm39)	L732*	probably null	Het
Gm21969	G	A	4: 139,335,009 (GRCm39)	G348S	probably benign	Het
Gprc6a	C	T	10: 51,502,895 (GRCm39)	V323M	probably damaging	Het
Gzme	T	A	14: 56,356,166 (GRCm39)	M111L	probably damaging	Het
Iars2	G	T	1: 185,035,498 (GRCm39)	Q581K	probably benign	Het
Klra17	A	T	6: 129,845,647 (GRCm39)		probably null	Het
Klra5	A	T	6: 129,883,577 (GRCm39)	D93E	possibly damaging	Het
Lats2	T	C	14: 57,937,805 (GRCm39)	Y228C	probably damaging	Het
Lrrn3	T	C	12: 41,502,216 (GRCm39)	I700M	probably damaging	Het
Ltb	A	T	17: 35,414,348 (GRCm39)		probably benign	Het
Myo18b	T	C	5: 112,923,279 (GRCm39)		probably benign	Het
Or10a3	T	A	7: 108,480,198 (GRCm39)	E205V	probably damaging	Het
Or11l3	A	G	11: 58,516,107 (GRCm39)	M255T	possibly damaging	Het
Or12d13	A	T	17: 37,647,600 (GRCm39)	H174Q	probably damaging	Het
Or1e35	G	A	11: 73,798,045 (GRCm39)	T91M	possibly damaging	Het
Or1j17	C	T	2: 36,578,644 (GRCm39)	P210L	possibly damaging	Het
Pgap1	A	C	1: 54,532,509 (GRCm39)	I670S	probably benign	Het
Plxna4	A	T	6: 32,493,530 (GRCm39)	I362N	probably damaging	Het
Ppef2	C	T	5: 92,383,759 (GRCm39)	W450*	probably null	Het
Prr27	T	C	5: 87,990,675 (GRCm39)	S96P	probably benign	Het
Psip1	T	A	4: 83,381,954 (GRCm39)		probably benign	Het
Rgs3	T	A	4: 62,544,084 (GRCm39)	H285Q	possibly damaging	Het
Rps6ka5	C	A	12: 100,540,258 (GRCm39)		probably benign	Het
Sipa1l1	T	A	12: 82,404,105 (GRCm39)	Y533N	probably benign	Het
Snx6	T	C	12: 54,842,295 (GRCm39)		probably benign	Het
Tbc1d9	T	A	8: 83,995,688 (GRCm39)		probably null	Het
Tek	T	C	4: 94,627,877 (GRCm39)		probably benign	Het
Tor2a	T	A	2: 32,651,509 (GRCm39)	H241Q	possibly damaging	Het
Wnt5a	A	T	14: 28,244,871 (GRCm39)	I353F	probably benign	Het

Other mutations in Ror1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Ror1	APN	4	100,190,940 (GRCm39)	missense	probably damaging	1.00
IGL00939:Ror1	APN	4	100,298,423 (GRCm39)	missense	probably benign	0.01
IGL01408:Ror1	APN	4	100,190,984 (GRCm39)	missense	probably damaging	1.00
IGL01678:Ror1	APN	4	100,283,165 (GRCm39)	missense	possibly damaging	0.68
IGL01700:Ror1	APN	4	100,266,968 (GRCm39)	missense	probably damaging	1.00
IGL01985:Ror1	APN	4	100,283,161 (GRCm39)	missense	possibly damaging	0.94
IGL02002:Ror1	APN	4	100,298,381 (GRCm39)	missense	probably damaging	1.00
IGL02634:Ror1	APN	4	100,283,307 (GRCm39)	missense	probably benign	0.00
IGL03033:Ror1	APN	4	100,269,092 (GRCm39)	missense	possibly damaging	0.67
IGL03207:Ror1	APN	4	100,265,142 (GRCm39)	splice site	probably null
F5770:Ror1	UTSW	4	100,298,130 (GRCm39)	missense	probably damaging	0.99
R0256:Ror1	UTSW	4	100,266,942 (GRCm39)	missense	probably benign	0.20
R0417:Ror1	UTSW	4	100,269,197 (GRCm39)	missense	possibly damaging	0.94
R0525:Ror1	UTSW	4	100,298,717 (GRCm39)	missense	probably damaging	1.00
R1034:Ror1	UTSW	4	100,190,817 (GRCm39)	nonsense	probably null
R1278:Ror1	UTSW	4	100,299,075 (GRCm39)	missense	possibly damaging	0.69
R1368:Ror1	UTSW	4	100,298,334 (GRCm39)	missense	possibly damaging	0.94
R1437:Ror1	UTSW	4	100,269,306 (GRCm39)	missense	probably benign
R1441:Ror1	UTSW	4	100,298,180 (GRCm39)	missense	probably benign
R1544:Ror1	UTSW	4	100,299,183 (GRCm39)	missense	probably damaging	1.00
R1717:Ror1	UTSW	4	100,160,135 (GRCm39)	missense	probably benign
R1857:Ror1	UTSW	4	100,298,700 (GRCm39)	missense	probably damaging	1.00
R2018:Ror1	UTSW	4	100,265,038 (GRCm39)	nonsense	probably null
R2051:Ror1	UTSW	4	100,265,065 (GRCm39)	nonsense	probably null
R2127:Ror1	UTSW	4	100,299,290 (GRCm39)	missense	probably benign
R2132:Ror1	UTSW	4	100,267,222 (GRCm39)	missense	probably benign	0.35
R2133:Ror1	UTSW	4	100,267,222 (GRCm39)	missense	probably benign	0.35
R2176:Ror1	UTSW	4	100,299,071 (GRCm39)	missense	probably damaging	0.99
R2431:Ror1	UTSW	4	100,298,352 (GRCm39)	missense	probably damaging	1.00
R2896:Ror1	UTSW	4	99,953,477 (GRCm39)	missense	unknown
R3005:Ror1	UTSW	4	100,298,961 (GRCm39)	missense	probably damaging	0.99
R3780:Ror1	UTSW	4	100,269,314 (GRCm39)	missense	probably benign	0.34
R3850:Ror1	UTSW	4	100,299,357 (GRCm39)	missense	possibly damaging	0.90
R3861:Ror1	UTSW	4	100,265,120 (GRCm39)	missense	possibly damaging	0.46
R4599:Ror1	UTSW	4	100,265,107 (GRCm39)	missense	probably damaging	0.99
R4863:Ror1	UTSW	4	100,267,001 (GRCm39)	missense	probably damaging	0.99
R4871:Ror1	UTSW	4	100,283,195 (GRCm39)	missense	probably benign
R4990:Ror1	UTSW	4	100,299,161 (GRCm39)	missense	probably benign
R5023:Ror1	UTSW	4	100,283,129 (GRCm39)	missense	probably benign	0.01
R5028:Ror1	UTSW	4	100,269,133 (GRCm39)	missense	possibly damaging	0.67
R5079:Ror1	UTSW	4	100,298,619 (GRCm39)	missense	probably damaging	1.00
R5294:Ror1	UTSW	4	100,283,135 (GRCm39)	missense	probably benign	0.00
R5538:Ror1	UTSW	4	100,298,208 (GRCm39)	missense	probably benign
R6339:Ror1	UTSW	4	100,269,128 (GRCm39)	missense	possibly damaging	0.91
R6491:Ror1	UTSW	4	100,267,109 (GRCm39)	missense	possibly damaging	0.94
R6632:Ror1	UTSW	4	100,299,303 (GRCm39)	missense	probably benign
R6733:Ror1	UTSW	4	100,283,252 (GRCm39)	missense	probably benign
R7022:Ror1	UTSW	4	100,265,108 (GRCm39)	missense	probably damaging	1.00
R7054:Ror1	UTSW	4	100,299,436 (GRCm39)	missense	probably benign	0.00
R7121:Ror1	UTSW	4	100,160,142 (GRCm39)	missense	probably benign	0.00
R7350:Ror1	UTSW	4	100,283,140 (GRCm39)	missense	probably benign	0.00
R7492:Ror1	UTSW	4	100,298,256 (GRCm39)	missense	probably benign	0.22
R7502:Ror1	UTSW	4	100,190,827 (GRCm39)	missense	probably benign	0.03
R7531:Ror1	UTSW	4	100,298,388 (GRCm39)	missense	probably damaging	1.00
R7661:Ror1	UTSW	4	100,298,687 (GRCm39)	missense	probably damaging	1.00
R7822:Ror1	UTSW	4	100,298,564 (GRCm39)	missense	probably damaging	1.00
R7831:Ror1	UTSW	4	100,298,295 (GRCm39)	missense	probably benign	0.01
R8366:Ror1	UTSW	4	100,267,195 (GRCm39)	missense	possibly damaging	0.91
R8539:Ror1	UTSW	4	100,299,084 (GRCm39)	missense	possibly damaging	0.71
R8757:Ror1	UTSW	4	100,298,080 (GRCm39)	missense	probably benign	0.01
R8862:Ror1	UTSW	4	100,191,715 (GRCm39)	critical splice donor site	probably null
R8913:Ror1	UTSW	4	100,265,027 (GRCm39)	missense	possibly damaging	0.89
R9382:Ror1	UTSW	4	100,191,709 (GRCm39)	missense	probably benign	0.00
V7580:Ror1	UTSW	4	100,298,130 (GRCm39)	missense	probably damaging	0.99
V7583:Ror1	UTSW	4	100,298,130 (GRCm39)	missense	probably damaging	0.99
X0020:Ror1	UTSW	4	100,283,287 (GRCm39)	missense	probably benign	0.02
Z1177:Ror1	UTSW	4	100,160,116 (GRCm39)	nonsense	probably null

Posted On

2016-08-02