Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02179:Ror2'

283254

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 #

IGL02179

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	C	A	2: 31,792,249 (GRCm38)	A385D	probably damaging	Het
Ace	A	G	11: 105,969,789 (GRCm38)	D174G	probably benign	Het
Aldh1l2	A	G	10: 83,522,837 (GRCm38)	V98A	probably benign	Het
AU040320	T	A	4: 126,835,612 (GRCm38)	F522L	probably benign	Het
Ccdc73	A	G	2: 104,907,568 (GRCm38)	D3G	probably damaging	Het
Cdk14	A	C	5: 5,103,845 (GRCm38)	L199V	probably damaging	Het
Cdk15	G	T	1: 59,330,941 (GRCm38)	A381S	possibly damaging	Het
Cyb5a	A	G	18: 84,873,155 (GRCm38)	I68V	probably benign	Het
Dock5	G	A	14: 67,806,496 (GRCm38)		probably benign	Het
Fbxw24	T	A	9: 109,609,905 (GRCm38)	K201*	probably null	Het
Gm5852	C	T	3: 93,727,716 (GRCm38)		noncoding transcript	Het
Gsdma3	A	G	11: 98,635,271 (GRCm38)	K274E	possibly damaging	Het
Hoxa7	T	A	6: 52,215,874 (GRCm38)	Q178L	probably damaging	Het
Itgae	G	T	11: 73,134,018 (GRCm38)	V992L	probably benign	Het
Klk1b26	A	G	7: 44,016,312 (GRCm38)	N183D	probably benign	Het
Krt39	A	T	11: 99,520,841 (GRCm38)	S140T	probably damaging	Het
Lama2	G	A	10: 27,070,364 (GRCm38)	T1953I	probably benign	Het
Mmp1a	G	A	9: 7,464,273 (GRCm38)	R26Q	probably benign	Het
Myh7b	A	C	2: 155,614,491 (GRCm38)	I175L	probably benign	Het
Nol11	A	G	11: 107,189,256 (GRCm38)	M1T	probably null	Het
Nrxn1	T	A	17: 90,630,083 (GRCm38)	I641F	probably damaging	Het
Olfr1047	A	T	2: 86,228,247 (GRCm38)	C241*	probably null	Het
Olfr1501	T	C	19: 13,838,487 (GRCm38)	T229A	probably benign	Het
Olfr610	A	C	7: 103,506,727 (GRCm38)	L73R	probably damaging	Het
Parn	G	T	16: 13,667,592 (GRCm38)	H13Q	probably benign	Het
Pcnx	T	C	12: 81,933,719 (GRCm38)		probably benign	Het
Pdcd10	T	C	3: 75,527,615 (GRCm38)	D60G	probably damaging	Het
Phka2	G	A	X: 160,554,380 (GRCm38)		probably null	Het
Ppargc1a	A	T	5: 51,473,711 (GRCm38)	D525E	possibly damaging	Het
Rad54l2	C	A	9: 106,720,390 (GRCm38)	R139L	probably damaging	Het
Rnf20	T	C	4: 49,638,712 (GRCm38)	V178A	probably benign	Het
Sdccag8	C	T	1: 176,878,056 (GRCm38)	H479Y	probably benign	Het
Taf8	T	C	17: 47,502,233 (GRCm38)	T13A	probably benign	Het
Ttc8	T	C	12: 98,964,537 (GRCm38)	L270P	possibly damaging	Het
Ttn	G	A	2: 76,887,368 (GRCm38)	Q365*	probably null	Het
Uchl1	A	G	5: 66,676,294 (GRCm38)	Q2R	probably benign	Het
Ufl1	A	G	4: 25,254,896 (GRCm38)	V440A	probably damaging	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
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
IGL02230: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