Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02554:Ror2'

298432

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ror2

Ensembl Gene

ENSMUSG00000021464

Gene Name

receptor tyrosine kinase-like orphan receptor 2

Synonyms

Ntrkr2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02554

Quality Score

Status

Chromosome

Chromosomal Location

53263353-53440160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53264764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 764 (S764N)

Ref Sequence

ENSEMBL: ENSMUSP00000123362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021918] [ENSMUST00000130235]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000021918
AA Change: S776N

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

SMART Domains

Protein: ENSMUSP00000021918
Gene: ENSMUSG00000021464
AA Change: S776N

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
IGc2	74	142	5.23e-16	SMART
Pfam:Fz	174	294	1.2e-12	PFAM
KR	314	396	3.94e-45	SMART
transmembrane domain	403	425	N/A	INTRINSIC
TyrKc	473	746	1.96e-113	SMART
low complexity region	765	783	N/A	INTRINSIC
low complexity region	788	801	N/A	INTRINSIC
low complexity region	839	859	N/A	INTRINSIC
low complexity region	860	872	N/A	INTRINSIC
low complexity region	905	924	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000130235
AA Change: S764N

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

SMART Domains

Protein: ENSMUSP00000123362
Gene: ENSMUSG00000021464
AA Change: S764N

Domain	Start	End	E-Value	Type
IGc2	62	130	5.23e-16	SMART
Pfam:Fz	162	289	3.2e-26	PFAM
KR	302	384	3.94e-45	SMART
transmembrane domain	391	413	N/A	INTRINSIC
TyrKc	461	734	1.96e-113	SMART
low complexity region	753	771	N/A	INTRINSIC
low complexity region	776	789	N/A	INTRINSIC
low complexity region	827	847	N/A	INTRINSIC
low complexity region	848	860	N/A	INTRINSIC
low complexity region	893	912	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for some disruptions in this gene die within the first few hours after birth. They display respiratory and cardiovascular abnormalities as well as a variety of skeletal defects. [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
9930111J21Rik1	T	A	11: 48,838,830 (GRCm39)	M586L	probably damaging	Het
Abcg3	T	C	5: 105,117,318 (GRCm39)	D204G	possibly damaging	Het
Acox3	C	A	5: 35,765,710 (GRCm39)	L588I	probably damaging	Het
Adamts9	G	T	6: 92,857,828 (GRCm39)	L849I	probably benign	Het
Alkbh3	T	G	2: 93,826,692 (GRCm39)	T170P	probably damaging	Het
Anks1b	A	T	10: 90,757,240 (GRCm39)	H300L	probably damaging	Het
Arhgap29	T	C	3: 121,786,173 (GRCm39)		probably benign	Het
Brd8dc	A	G	18: 34,726,068 (GRCm39)	S112P	probably benign	Het
Cd86	C	T	16: 36,438,847 (GRCm39)	G181D	probably benign	Het
Cep68	A	T	11: 20,190,096 (GRCm39)	H305Q	possibly damaging	Het
Cimip4	A	G	15: 78,262,736 (GRCm39)	M245T	possibly damaging	Het
Clptm1l	A	T	13: 73,755,879 (GRCm39)	D165V	probably benign	Het
Dctn1	T	C	6: 83,159,704 (GRCm39)	Y61H	probably damaging	Het
Dnah7a	A	T	1: 53,657,205 (GRCm39)	M857K	possibly damaging	Het
Gpr158	A	G	2: 21,831,407 (GRCm39)	M836V	probably benign	Het
Gria1	G	T	11: 57,180,314 (GRCm39)	A755S	possibly damaging	Het
Helb	G	A	10: 119,925,617 (GRCm39)	T920M	probably damaging	Het
Hr	T	C	14: 70,797,306 (GRCm39)		probably benign	Het
Igf2bp1	A	G	11: 95,864,994 (GRCm39)	S152P	probably damaging	Het
Iqsec1	T	C	6: 90,646,327 (GRCm39)	Y784C	probably damaging	Het
Ldah	T	A	12: 8,333,935 (GRCm39)	C275*	probably null	Het
Lpin3	T	C	2: 160,738,707 (GRCm39)	S220P	probably damaging	Het
Med23	T	C	10: 24,774,473 (GRCm39)		probably null	Het
Mllt1	T	C	17: 57,206,806 (GRCm39)	D346G	probably benign	Het
Myef2	A	C	2: 124,942,345 (GRCm39)		probably null	Het
Myh2	A	G	11: 67,079,991 (GRCm39)	S1095G	probably benign	Het
Nav1	A	G	1: 135,512,651 (GRCm39)		silent	Het
Or10a3m	A	G	7: 108,312,949 (GRCm39)	M118V	possibly damaging	Het
Piwil2	G	A	14: 70,628,935 (GRCm39)		probably benign	Het
Pkhd1l1	T	A	15: 44,441,896 (GRCm39)	F3612I	probably damaging	Het
S100pbp	A	T	4: 129,075,644 (GRCm39)		probably null	Het
Scnn1b	T	C	7: 121,516,746 (GRCm39)	I495T	probably damaging	Het
Sgo2b	A	C	8: 64,379,571 (GRCm39)	V1087G	probably damaging	Het
Sil1	A	T	18: 35,481,786 (GRCm39)	V91E	probably damaging	Het
Slc5a4b	A	G	10: 75,946,685 (GRCm39)	I29T	possibly damaging	Het
Spink5	A	T	18: 44,148,661 (GRCm39)	N908I	probably benign	Het
Svopl	A	C	6: 37,993,978 (GRCm39)	I351S	probably damaging	Het
Syngr3	A	G	17: 24,905,302 (GRCm39)	V198A	probably benign	Het
Tbck	C	A	3: 132,456,953 (GRCm39)	Y622*	probably null	Het
Tkt	T	A	14: 30,280,737 (GRCm39)	M56K	probably damaging	Het
Trip10	T	C	17: 57,570,135 (GRCm39)	V544A	probably damaging	Het
Txndc16	T	C	14: 45,409,995 (GRCm39)	E195G	probably damaging	Het
Vmn2r69	G	A	7: 85,059,014 (GRCm39)	P516S	probably damaging	Het
Vmn2r74	T	C	7: 85,606,581 (GRCm39)	N255S	probably benign	Het
Xpo4	T	C	14: 57,827,545 (GRCm39)	T884A	probably benign	Het
Zdhhc2	A	G	8: 40,915,155 (GRCm39)	N167S	probably damaging	Het

Other mutations in Ror2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Ror2	APN	13	53,267,118 (GRCm39)	missense	probably benign	0.01
IGL01523:Ror2	APN	13	53,272,999 (GRCm39)	missense	probably benign	0.02
IGL01599:Ror2	APN	13	53,265,653 (GRCm39)	missense	probably damaging	1.00
IGL01669:Ror2	APN	13	53,265,124 (GRCm39)	missense	probably damaging	1.00
IGL02016:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
IGL02138:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
IGL02139:Ror2	APN	13	53,265,200 (GRCm39)	missense	probably damaging	1.00
IGL02172:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
IGL02173:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
IGL02176:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
IGL02177:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
IGL02178:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
IGL02179:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
IGL02182:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
IGL02189:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
IGL02190:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
IGL02203:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
IGL02230:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
IGL02231:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
IGL02234:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
IGL02423:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
IGL02424:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
IGL02478:Ror2	APN	13	53,275,703 (GRCm39)	missense	probably damaging	1.00
IGL02479:Ror2	APN	13	53,285,968 (GRCm39)	missense	possibly damaging	0.62
IGL02517:Ror2	APN	13	53,272,876 (GRCm39)	missense	probably damaging	1.00
IGL02618:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
IGL02619:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
IGL02622:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
IGL02623:Ror2	APN	13	53,264,764 (GRCm39)	missense	probably damaging	1.00
lavage	UTSW	13	53,273,018 (GRCm39)	missense	probably damaging	1.00
tendrils	UTSW	13	53,265,487 (GRCm39)	missense	probably damaging	0.96
willowy	UTSW	13	53,285,955 (GRCm39)	missense	probably damaging	1.00
R0076:Ror2	UTSW	13	53,267,110 (GRCm39)	missense	probably benign	0.02
R0375:Ror2	UTSW	13	53,286,040 (GRCm39)	missense	probably damaging	1.00
R0826:Ror2	UTSW	13	53,267,253 (GRCm39)	missense	probably damaging	1.00
R1823:Ror2	UTSW	13	53,264,341 (GRCm39)	missense	probably benign	0.07
R1895:Ror2	UTSW	13	53,285,885 (GRCm39)	missense	probably damaging	1.00
R1946:Ror2	UTSW	13	53,285,885 (GRCm39)	missense	probably damaging	1.00
R1983:Ror2	UTSW	13	53,264,444 (GRCm39)	missense	probably benign	0.01
R2031:Ror2	UTSW	13	53,271,366 (GRCm39)	missense	probably benign	0.01
R2197:Ror2	UTSW	13	53,439,816 (GRCm39)	critical splice donor site	probably null
R2246:Ror2	UTSW	13	53,265,638 (GRCm39)	missense	probably damaging	1.00
R2405:Ror2	UTSW	13	53,284,980 (GRCm39)	missense	possibly damaging	0.67
R2411:Ror2	UTSW	13	53,284,980 (GRCm39)	missense	possibly damaging	0.67
R2905:Ror2	UTSW	13	53,286,031 (GRCm39)	missense	probably benign	0.01
R3156:Ror2	UTSW	13	53,271,400 (GRCm39)	missense	probably damaging	0.98
R4198:Ror2	UTSW	13	53,264,680 (GRCm39)	missense	probably benign	0.08
R4408:Ror2	UTSW	13	53,272,997 (GRCm39)	missense	probably damaging	1.00
R4469:Ror2	UTSW	13	53,286,016 (GRCm39)	missense	possibly damaging	0.87
R4648:Ror2	UTSW	13	53,439,536 (GRCm39)	nonsense	probably null
R4705:Ror2	UTSW	13	53,271,333 (GRCm39)	missense	probably benign	0.00
R4824:Ror2	UTSW	13	53,264,719 (GRCm39)	missense	probably benign	0.10
R4831:Ror2	UTSW	13	53,272,880 (GRCm39)	missense	probably damaging	0.97
R4951:Ror2	UTSW	13	53,271,183 (GRCm39)	missense	probably benign	0.00
R4975:Ror2	UTSW	13	53,285,954 (GRCm39)	missense	probably damaging	1.00
R5380:Ror2	UTSW	13	53,271,185 (GRCm39)	missense	possibly damaging	0.73
R5469:Ror2	UTSW	13	53,271,375 (GRCm39)	missense	probably benign	0.00
R5604:Ror2	UTSW	13	53,271,201 (GRCm39)	missense	probably benign	0.01
R6188:Ror2	UTSW	13	53,265,347 (GRCm39)	missense	probably damaging	0.98
R6221:Ror2	UTSW	13	53,267,253 (GRCm39)	missense	probably damaging	1.00
R6243:Ror2	UTSW	13	53,267,116 (GRCm39)	missense	probably benign
R6255:Ror2	UTSW	13	53,264,578 (GRCm39)	missense	probably damaging	1.00
R6497:Ror2	UTSW	13	53,285,955 (GRCm39)	missense	probably damaging	1.00
R6717:Ror2	UTSW	13	53,273,018 (GRCm39)	missense	probably damaging	1.00
R6918:Ror2	UTSW	13	53,265,487 (GRCm39)	missense	probably damaging	0.96
R7092:Ror2	UTSW	13	53,264,272 (GRCm39)	missense	probably benign
R7134:Ror2	UTSW	13	53,300,742 (GRCm39)	missense	probably benign	0.00
R7254:Ror2	UTSW	13	53,272,756 (GRCm39)	missense	possibly damaging	0.72
R7517:Ror2	UTSW	13	53,264,901 (GRCm39)	missense	possibly damaging	0.86
R7560:Ror2	UTSW	13	53,264,849 (GRCm39)	missense	probably benign	0.05
R7746:Ror2	UTSW	13	53,271,261 (GRCm39)	missense	probably damaging	1.00
R8031:Ror2	UTSW	13	53,267,193 (GRCm39)	missense	probably damaging	1.00
R8479:Ror2	UTSW	13	53,271,400 (GRCm39)	missense	probably damaging	0.98
R8684:Ror2	UTSW	13	53,264,302 (GRCm39)	missense	possibly damaging	0.90
R8834:Ror2	UTSW	13	53,264,338 (GRCm39)	small deletion	probably benign
R8948:Ror2	UTSW	13	53,286,032 (GRCm39)	missense	possibly damaging	0.67
R9233:Ror2	UTSW	13	53,265,590 (GRCm39)	missense	probably benign
R9234:Ror2	UTSW	13	53,265,374 (GRCm39)	missense	probably damaging	1.00
R9573:Ror2	UTSW	13	53,265,467 (GRCm39)	missense	probably benign
R9665:Ror2	UTSW	13	53,439,561 (GRCm39)	start codon destroyed	probably null

Posted On

2015-04-16