Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02190:Ror2'

283835

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 #

IGL02190

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	C	5: 129,217,788 (GRCm39)		probably benign	Het
Ano1	T	C	7: 144,172,620 (GRCm39)	E521G	probably benign	Het
As3mt	A	T	19: 46,708,384 (GRCm39)	I224F	probably benign	Het
Atp5mf	C	A	5: 145,120,642 (GRCm39)		probably benign	Het
Cacna1h	A	G	17: 25,652,000 (GRCm39)	V48A	probably benign	Het
Ctu2	T	C	8: 123,208,397 (GRCm39)		probably benign	Het
Ecpas	A	T	4: 58,800,190 (GRCm39)	S1838R	probably benign	Het
Efcab5	T	C	11: 77,012,140 (GRCm39)	R841G	probably benign	Het
Erbb3	A	T	10: 128,406,879 (GRCm39)		probably null	Het
Fkbp15	G	T	4: 62,223,059 (GRCm39)	P947T	possibly damaging	Het
Gabpb1	A	G	2: 126,495,469 (GRCm39)		probably benign	Het
Gcn1	G	T	5: 115,752,183 (GRCm39)	V2100L	probably damaging	Het
Gemin5	A	C	11: 58,025,668 (GRCm39)	V977G	probably damaging	Het
Gpr107	T	A	2: 31,068,332 (GRCm39)	Y265N	probably damaging	Het
Gpx8	T	C	13: 113,179,843 (GRCm39)		probably benign	Het
H2-Eb2	A	T	17: 34,553,348 (GRCm39)	N178I	probably damaging	Het
Ift172	C	T	5: 31,411,802 (GRCm39)	V1587I	possibly damaging	Het
Lrrc45	A	G	11: 120,609,334 (GRCm39)	T398A	probably damaging	Het
Mmrn1	G	T	6: 60,964,177 (GRCm39)	V1059L	probably benign	Het
Morn5	A	G	2: 35,969,527 (GRCm39)	D147G	probably benign	Het
Mphosph9	T	C	5: 124,403,488 (GRCm39)	R847G	possibly damaging	Het
Nutm1	C	T	2: 112,079,751 (GRCm39)	W721*	probably null	Het
Or1j18	T	C	2: 36,624,591 (GRCm39)	L86P	probably benign	Het
Or2j6	T	C	7: 139,980,033 (GRCm39)		probably benign	Het
Or5w13	A	G	2: 87,523,407 (GRCm39)	M273T	probably benign	Het
Rgl3	A	G	9: 21,893,004 (GRCm39)	F227L	probably benign	Het
Ropn1l	G	T	15: 31,443,487 (GRCm39)	L182I	probably benign	Het
Scgb1a1	A	T	19: 9,065,231 (GRCm39)	L12Q	probably damaging	Het
Scp2	A	G	4: 107,944,325 (GRCm39)	S237P	probably benign	Het
Skint5	T	C	4: 113,797,962 (GRCm39)	Q207R	possibly damaging	Het
Slc16a5	A	G	11: 115,353,435 (GRCm39)	M1V	probably null	Het
Tox2	G	A	2: 163,164,926 (GRCm39)	R522H	possibly damaging	Het
Trip12	A	T	1: 84,743,791 (GRCm39)	N505K	probably damaging	Het
Tuba1c	G	A	15: 98,935,870 (GRCm39)	D444N	unknown	Het
Vmn1r174	A	G	7: 23,454,252 (GRCm39)	E306G	unknown	Het
Vmn2r111	A	T	17: 22,789,754 (GRCm39)	F417L	probably benign	Het
Vmn2r15	A	T	5: 109,441,240 (GRCm39)	M206K	probably damaging	Het
Vmn2r95	G	T	17: 18,672,038 (GRCm39)	A592S	probably benign	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	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
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