Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01523:Ror2'

89482

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 #

IGL01523

Quality Score

Status

Chromosome

Chromosomal Location

53263353-53440160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53272999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 210 (Q210R)

Ref Sequence

ENSEMBL: ENSMUSP00000123362 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021918
AA Change: Q222R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000021918
Gene: ENSMUSG00000021464
AA Change: Q222R

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 benign
Transcript: ENSMUST00000130235
AA Change: Q210R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000123362
Gene: ENSMUSG00000021464
AA Change: Q210R

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,867,320 (GRCm39)	E246G	probably damaging	Het
B3galt5	T	A	16: 96,117,091 (GRCm39)	D241E	probably damaging	Het
Camta1	A	G	4: 151,229,507 (GRCm39)	F442L	possibly damaging	Het
Cntnap5b	A	T	1: 100,359,504 (GRCm39)	E709V	probably benign	Het
Ctnnal1	T	C	4: 56,835,243 (GRCm39)	I345V	probably damaging	Het
Evpl	T	C	11: 116,124,270 (GRCm39)	N183S	probably damaging	Het
Fam90a1b	T	C	X: 93,400,365 (GRCm39)	D155G	probably benign	Het
Fsip2	G	A	2: 82,807,863 (GRCm39)	S1394N	probably benign	Het
Gcnt2	A	T	13: 41,041,339 (GRCm39)	Q166L	probably benign	Het
Gpatch1	T	C	7: 35,007,763 (GRCm39)	D99G	probably null	Het
Grin2b	A	T	6: 136,021,263 (GRCm39)	W13R	probably null	Het
Hbb-bh1	C	T	7: 103,491,024 (GRCm39)	V127M	probably benign	Het
Hc	C	T	2: 34,929,250 (GRCm39)	M282I	probably benign	Het
Hirip3	A	G	7: 126,461,876 (GRCm39)	E57G	probably damaging	Het
Inpp5j	C	T	11: 3,445,932 (GRCm39)		probably null	Het
Krt84	A	T	15: 101,437,179 (GRCm39)	V328E	probably damaging	Het
Lrriq1	C	A	10: 103,053,977 (GRCm39)	E247*	probably null	Het
Mmrn2	T	A	14: 34,125,174 (GRCm39)	F918L	probably damaging	Het
Myh13	A	G	11: 67,238,769 (GRCm39)	E704G	possibly damaging	Het
Myo16	T	A	8: 10,420,908 (GRCm39)	N249K	probably damaging	Het
Nobox	C	A	6: 43,281,057 (GRCm39)	K472N	probably damaging	Het
Or1j1	T	A	2: 36,702,415 (GRCm39)	T230S	probably benign	Het
Orc4	A	T	2: 48,807,236 (GRCm39)	S232T	probably benign	Het
Pign	A	T	1: 105,580,903 (GRCm39)	Y159N	probably damaging	Het
Rere	T	A	4: 150,700,012 (GRCm39)	V1032E	possibly damaging	Het
Sh3tc2	G	A	18: 62,123,954 (GRCm39)	R905Q	probably benign	Het
Ttn	A	G	2: 76,785,327 (GRCm39)	S683P	possibly 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
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
IGL02554:Ror2	APN	13	53,264,764 (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

2013-12-03