Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01985:Ror1'

181867

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 #

IGL01985

Quality Score

Status

Chromosome

Chromosomal Location

99952988-100301962 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100283161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 409 (V409M)

Ref Sequence

ENSEMBL: ENSMUSP00000048171 (fasta)

Gene Model

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

AlphaFold

Q9Z139

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039630
AA Change: V409M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: V409M

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	G	A	4: 144,442,024 (GRCm39)	Q76*	probably null	Het
Cass4	A	C	2: 172,269,126 (GRCm39)	S403R	probably damaging	Het
Ccdc175	A	T	12: 72,175,052 (GRCm39)	Y540*	probably null	Het
Cep164	C	T	9: 45,690,904 (GRCm39)	E1266K	probably damaging	Het
Clec12b	T	A	6: 129,359,334 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,814,482 (GRCm39)	K510R	unknown	Het
Crisp4	G	A	1: 18,204,289 (GRCm39)	P101S	probably damaging	Het
Dapk1	T	C	13: 60,884,074 (GRCm39)	L614P	probably damaging	Het
Dip2c	T	C	13: 9,603,303 (GRCm39)		probably benign	Het
Dock7	A	G	4: 98,911,614 (GRCm39)	F589L	probably benign	Het
Dvl2	T	A	11: 69,899,119 (GRCm39)	V459E	probably damaging	Het
E2f6	T	C	12: 16,869,064 (GRCm39)		probably null	Het
Exph5	T	C	9: 53,287,869 (GRCm39)	L1650P	probably damaging	Het
Farp2	A	G	1: 93,535,324 (GRCm39)	Y691C	probably damaging	Het
Fshb	T	C	2: 106,889,173 (GRCm39)	T44A	probably benign	Het
Gm28044	T	A	13: 67,495,958 (GRCm39)	K28*	probably null	Het
Il12b	G	A	11: 44,298,881 (GRCm39)	W112*	probably null	Het
Ino80	T	C	2: 119,263,802 (GRCm39)	T621A	probably damaging	Het
Irx5	T	A	8: 93,086,155 (GRCm39)		probably benign	Het
Jmy	T	C	13: 93,596,144 (GRCm39)	H495R	possibly damaging	Het
Kif21a	A	T	15: 90,875,970 (GRCm39)	V321D	probably damaging	Het
Lrrc10	T	A	10: 116,881,921 (GRCm39)	D198E	probably damaging	Het
Lrsam1	T	C	2: 32,818,103 (GRCm39)	E651G	probably benign	Het
Mtarc1	A	G	1: 184,519,931 (GRCm39)	V230A	probably damaging	Het
Mylk4	T	A	13: 32,901,564 (GRCm39)	I475L	possibly damaging	Het
Myom3	G	A	4: 135,493,013 (GRCm39)		probably null	Het
Or5ac19	A	T	16: 59,089,442 (GRCm39)	V196E	probably benign	Het
Pah	G	A	10: 87,414,844 (GRCm39)	V399M	probably damaging	Het
Pik3r4	G	A	9: 105,540,244 (GRCm39)	E711K	probably benign	Het
Rbbp6	A	G	7: 122,570,296 (GRCm39)	K38E	probably damaging	Het
Slc6a11	T	A	6: 114,111,853 (GRCm39)	V140D	probably benign	Het
Srebf2	G	T	15: 82,076,560 (GRCm39)	A737S	probably benign	Het
Tcerg1	A	G	18: 42,663,721 (GRCm39)	T303A	unknown	Het
Tmem74	A	T	15: 43,730,476 (GRCm39)	I189N	probably damaging	Het
Tnr	A	G	1: 159,746,607 (GRCm39)	D1242G	possibly damaging	Het
U2surp	A	T	9: 95,372,279 (GRCm39)	F293L	probably damaging	Het
Uchl5	G	A	1: 143,661,864 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,402,565 (GRCm39)	C2472S	probably damaging	Het
Usp42	G	A	5: 143,700,940 (GRCm39)	R1028W	probably damaging	Het
Vmn2r10	A	G	5: 109,154,125 (GRCm39)	S60P	probably benign	Het
Vmn2r31	G	T	7: 7,397,510 (GRCm39)	D249E	probably benign	Het
Vnn1	C	T	10: 23,776,642 (GRCm39)	T331I	probably benign	Het
Zmym6	G	T	4: 126,994,541 (GRCm39)	V232F	probably damaging	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
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
IGL02995:Ror1	APN	4	100,191,722 (GRCm39)	splice site	probably benign
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

2014-05-07