Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02177:Ror2'

283150

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 #

IGL02177

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	T	G	19: 53,205,323 (GRCm39)	Y24*	probably null	Het
Catsperb	A	G	12: 101,507,721 (GRCm39)	Y496C	probably damaging	Het
Ccdc183	C	T	2: 25,502,095 (GRCm39)	E260K	probably benign	Het
Ccdc81	A	C	7: 89,524,988 (GRCm39)	M531R	possibly damaging	Het
Cyp3a16	T	A	5: 145,386,964 (GRCm39)	N342I	probably benign	Het
Defb43	T	C	14: 63,249,266 (GRCm39)	V3A	probably benign	Het
Dpyd	T	A	3: 118,858,559 (GRCm39)	I591N	possibly damaging	Het
Dpysl5	T	G	5: 30,902,622 (GRCm39)	V18G	probably damaging	Het
Erc2	A	T	14: 27,620,580 (GRCm39)	M69L	probably benign	Het
Fam184b	G	T	5: 45,690,157 (GRCm39)	Y817*	probably null	Het
Fyb1	G	T	15: 6,688,047 (GRCm39)		probably null	Het
Gpr33	G	T	12: 52,070,863 (GRCm39)	Q59K	probably benign	Het
Heatr3	T	G	8: 88,883,351 (GRCm39)	F278V	probably benign	Het
Hectd1	A	T	12: 51,819,103 (GRCm39)	D1292E	probably damaging	Het
Herc1	A	T	9: 66,341,793 (GRCm39)	M1861L	probably benign	Het
Hspg2	T	A	4: 137,242,627 (GRCm39)	L614Q	probably damaging	Het
Itpr3	A	G	17: 27,318,588 (GRCm39)	R915G	possibly damaging	Het
Jhy	T	C	9: 40,809,553 (GRCm39)	D646G	probably damaging	Het
Lrig1	T	A	6: 94,640,977 (GRCm39)	N76I	possibly damaging	Het
Macc1	A	G	12: 119,429,292 (GRCm39)	D814G	probably damaging	Het
Mapk8ip1	T	C	2: 92,217,092 (GRCm39)	D401G	probably damaging	Het
Nedd4	T	A	9: 72,654,439 (GRCm39)	S865T	probably damaging	Het
Or9s27	G	A	1: 92,516,479 (GRCm39)	M142I	possibly damaging	Het
Pi4ka	A	T	16: 17,136,146 (GRCm39)	D937E	probably benign	Het
Prkcd	T	A	14: 30,327,844 (GRCm39)	I81F	probably damaging	Het
Ranbp9	A	T	13: 43,573,193 (GRCm39)	C280S	probably damaging	Het
Scn1b	T	C	7: 30,816,655 (GRCm39)	*219W	probably null	Het
Slain2	T	C	5: 73,072,008 (GRCm39)	V14A	probably benign	Het
Soat1	A	T	1: 156,268,073 (GRCm39)		probably benign	Het
Tbc1d4	T	A	14: 101,692,375 (GRCm39)	M1030L	possibly damaging	Het
Tenm4	T	C	7: 96,544,869 (GRCm39)	V2295A	probably benign	Het
Tmem135	A	G	7: 88,987,661 (GRCm39)	Y46H	probably damaging	Het
Tnfsf18	A	T	1: 161,331,354 (GRCm39)	D168V	probably damaging	Het
Trdn	T	C	10: 33,015,169 (GRCm39)	V41A	probably damaging	Het
Trpc5	G	T	X: 143,264,234 (GRCm39)	L208I	probably damaging	Het
Vmn1r50	T	C	6: 90,085,139 (GRCm39)	Y295H	probably benign	Het
Vmn2r18	T	G	5: 151,510,274 (GRCm39)	H33P	possibly damaging	Het
Vmn2r84	T	C	10: 130,227,881 (GRCm39)	I118M	probably benign	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
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

2015-04-16