Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02230:Ror2'

285659

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 #

IGL02230

Quality Score

Status

Chromosome

Chromosomal Location

53109312-53286124 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53110728 bp (GRCm38)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,171,830 (GRCm38)	T727S	probably benign	Het
Cyp4a12b	A	T	4: 115,433,996 (GRCm38)	I374F	probably damaging	Het
Ecel1	T	C	1: 87,152,194 (GRCm38)	N399S	probably damaging	Het
Fpr-rs3	T	C	17: 20,623,928 (GRCm38)	E317G	probably damaging	Het
Gm10030	T	A	9: 111,006,390 (GRCm38)		noncoding transcript	Het
Gm4884	A	T	7: 41,043,405 (GRCm38)	Q266L	probably damaging	Het
Gpr45	C	A	1: 43,032,656 (GRCm38)	A153E	probably damaging	Het
Hc	A	G	2: 35,013,670 (GRCm38)	F991L	probably benign	Het
Hif1a	T	G	12: 73,932,450 (GRCm38)	D249E	probably damaging	Het
Hsd17b12	A	G	2: 94,045,398 (GRCm38)	L194P	possibly damaging	Het
Hspg2	T	C	4: 137,518,645 (GRCm38)	S947P	probably damaging	Het
Kng1	G	T	16: 23,060,494 (GRCm38)		probably null	Het
Lpp	C	T	16: 24,762,145 (GRCm38)	R204W	probably damaging	Het
Lrrc4	T	A	6: 28,830,880 (GRCm38)	K245N	probably damaging	Het
Mdga2	G	A	12: 66,655,423 (GRCm38)	R335*	probably null	Het
Naa16	A	T	14: 79,377,361 (GRCm38)		probably benign	Het
Ncbp1	C	A	4: 46,165,272 (GRCm38)	N528K	probably benign	Het
Olfr57	T	A	10: 79,035,042 (GRCm38)	M82K	probably damaging	Het
Olfr714	A	G	7: 107,074,493 (GRCm38)	I222V	probably damaging	Het
Pipox	A	G	11: 77,881,206 (GRCm38)	L364P	probably damaging	Het
R3hdm4	C	A	10: 79,912,091 (GRCm38)	A206S	probably damaging	Het
Rasgrf2	A	G	13: 91,988,026 (GRCm38)	I589T	probably damaging	Het
Sdr16c5	T	C	4: 4,016,354 (GRCm38)	E24G	probably damaging	Het
Sec24a	T	C	11: 51,709,034 (GRCm38)	I815V	possibly damaging	Het
Serpina16	A	G	12: 103,675,302 (GRCm38)	Y55H	probably damaging	Het
Sirt2	C	T	7: 28,778,946 (GRCm38)	R83C	probably damaging	Het
Sntg1	A	T	1: 8,681,971 (GRCm38)		probably null	Het
Stmn1	A	G	4: 134,472,913 (GRCm38)	E99G	probably damaging	Het
Tas2r103	T	C	6: 133,037,056 (GRCm38)	I16V	possibly damaging	Het
Vit	A	G	17: 78,619,627 (GRCm38)	K334E	probably damaging	Het
Washc4	T	C	10: 83,581,369 (GRCm38)	I876T	probably benign	Het
Wrn	A	T	8: 33,317,563 (GRCm38)	V289D	probably damaging	Het
Zfp318	C	T	17: 46,396,810 (GRCm38)	R265*	probably null	Het

Other mutations in Ror2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Ror2	APN	13	53,113,082 (GRCm38)	missense	probably benign	0.01
IGL01523:Ror2	APN	13	53,118,963 (GRCm38)	missense	probably benign	0.02
IGL01599:Ror2	APN	13	53,111,617 (GRCm38)	missense	probably damaging	1.00
IGL01669:Ror2	APN	13	53,111,088 (GRCm38)	missense	probably damaging	1.00
IGL02016:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
IGL02138:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
IGL02139:Ror2	APN	13	53,111,164 (GRCm38)	missense	probably damaging	1.00
IGL02172:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
IGL02173:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
IGL02176:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
IGL02177:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
IGL02178:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
IGL02179:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
IGL02182:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
IGL02189:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
IGL02190:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
IGL02203:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
IGL02231:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
IGL02234:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
IGL02423:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
IGL02424:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
IGL02478:Ror2	APN	13	53,121,667 (GRCm38)	missense	probably damaging	1.00
IGL02479:Ror2	APN	13	53,131,932 (GRCm38)	missense	possibly damaging	0.62
IGL02517:Ror2	APN	13	53,118,840 (GRCm38)	missense	probably damaging	1.00
IGL02554:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
IGL02618:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
IGL02619:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
IGL02622:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
IGL02623:Ror2	APN	13	53,110,728 (GRCm38)	missense	probably damaging	1.00
lavage	UTSW	13	53,118,982 (GRCm38)	missense	probably damaging	1.00
tendrils	UTSW	13	53,111,451 (GRCm38)	missense	probably damaging	0.96
willowy	UTSW	13	53,131,919 (GRCm38)	missense	probably damaging	1.00
R0076:Ror2	UTSW	13	53,113,074 (GRCm38)	missense	probably benign	0.02
R0375:Ror2	UTSW	13	53,132,004 (GRCm38)	missense	probably damaging	1.00
R0826:Ror2	UTSW	13	53,113,217 (GRCm38)	missense	probably damaging	1.00
R1823:Ror2	UTSW	13	53,110,305 (GRCm38)	missense	probably benign	0.07
R1895:Ror2	UTSW	13	53,131,849 (GRCm38)	missense	probably damaging	1.00
R1946:Ror2	UTSW	13	53,131,849 (GRCm38)	missense	probably damaging	1.00
R1983:Ror2	UTSW	13	53,110,408 (GRCm38)	missense	probably benign	0.01
R2031:Ror2	UTSW	13	53,117,330 (GRCm38)	missense	probably benign	0.01
R2197:Ror2	UTSW	13	53,285,780 (GRCm38)	critical splice donor site	probably null
R2246:Ror2	UTSW	13	53,111,602 (GRCm38)	missense	probably damaging	1.00
R2405:Ror2	UTSW	13	53,130,944 (GRCm38)	missense	possibly damaging	0.67
R2411:Ror2	UTSW	13	53,130,944 (GRCm38)	missense	possibly damaging	0.67
R2905:Ror2	UTSW	13	53,131,995 (GRCm38)	missense	probably benign	0.01
R3156:Ror2	UTSW	13	53,117,364 (GRCm38)	missense	probably damaging	0.98
R4198:Ror2	UTSW	13	53,110,644 (GRCm38)	missense	probably benign	0.08
R4408:Ror2	UTSW	13	53,118,961 (GRCm38)	missense	probably damaging	1.00
R4469:Ror2	UTSW	13	53,131,980 (GRCm38)	missense	possibly damaging	0.87
R4648:Ror2	UTSW	13	53,285,500 (GRCm38)	nonsense	probably null
R4705:Ror2	UTSW	13	53,117,297 (GRCm38)	missense	probably benign	0.00
R4824:Ror2	UTSW	13	53,110,683 (GRCm38)	missense	probably benign	0.10
R4831:Ror2	UTSW	13	53,118,844 (GRCm38)	missense	probably damaging	0.97
R4951:Ror2	UTSW	13	53,117,147 (GRCm38)	missense	probably benign	0.00
R4975:Ror2	UTSW	13	53,131,918 (GRCm38)	missense	probably damaging	1.00
R5380:Ror2	UTSW	13	53,117,149 (GRCm38)	missense	possibly damaging	0.73
R5469:Ror2	UTSW	13	53,117,339 (GRCm38)	missense	probably benign	0.00
R5604:Ror2	UTSW	13	53,117,165 (GRCm38)	missense	probably benign	0.01
R6188:Ror2	UTSW	13	53,111,311 (GRCm38)	missense	probably damaging	0.98
R6221:Ror2	UTSW	13	53,113,217 (GRCm38)	missense	probably damaging	1.00
R6243:Ror2	UTSW	13	53,113,080 (GRCm38)	missense	probably benign
R6255:Ror2	UTSW	13	53,110,542 (GRCm38)	missense	probably damaging	1.00
R6497:Ror2	UTSW	13	53,131,919 (GRCm38)	missense	probably damaging	1.00
R6717:Ror2	UTSW	13	53,118,982 (GRCm38)	missense	probably damaging	1.00
R6918:Ror2	UTSW	13	53,111,451 (GRCm38)	missense	probably damaging	0.96
R7092:Ror2	UTSW	13	53,110,236 (GRCm38)	missense	probably benign
R7134:Ror2	UTSW	13	53,146,706 (GRCm38)	missense	probably benign	0.00
R7254:Ror2	UTSW	13	53,118,720 (GRCm38)	missense	possibly damaging	0.72
R7517:Ror2	UTSW	13	53,110,865 (GRCm38)	missense	possibly damaging	0.86
R7560:Ror2	UTSW	13	53,110,813 (GRCm38)	missense	probably benign	0.05
R7746:Ror2	UTSW	13	53,117,225 (GRCm38)	missense	probably damaging	1.00
R8031:Ror2	UTSW	13	53,113,157 (GRCm38)	missense	probably damaging	1.00
R8479:Ror2	UTSW	13	53,117,364 (GRCm38)	missense	probably damaging	0.98
R8684:Ror2	UTSW	13	53,110,266 (GRCm38)	missense	possibly damaging	0.90
R8834:Ror2	UTSW	13	53,110,302 (GRCm38)	small deletion	probably benign
R8948:Ror2	UTSW	13	53,131,996 (GRCm38)	missense	possibly damaging	0.67
R9233:Ror2	UTSW	13	53,111,554 (GRCm38)	missense	probably benign
R9234:Ror2	UTSW	13	53,111,338 (GRCm38)	missense	probably damaging	1.00
R9573:Ror2	UTSW	13	53,111,431 (GRCm38)	missense	probably benign
R9665:Ror2	UTSW	13	53,285,525 (GRCm38)	start codon destroyed	probably null

Posted On

2015-04-16