Mutagenetix > Incidental Mutation

Incidental Mutation 'R3156:Ror2'

263510

Institutional Source

Beutler Lab

Gene Symbol

Ror2

Ensembl Gene

ENSMUSG00000021464

Gene Name

receptor tyrosine kinase-like orphan receptor 2

Synonyms

Ntrkr2

MMRRC Submission

040607-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3156 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

53263353-53440160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 53271400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 306 (N306K)

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: N318K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021918
Gene: ENSMUSG00000021464
AA Change: N318K

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: N306K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123362
Gene: ENSMUSG00000021464
AA Change: N306K

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

Meta Mutation Damage Score

0.2491

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (39/40)

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
4933407L21Rik	T	C	1: 85,859,104 (GRCm39)		probably benign	Het
Adra2b	T	C	2: 127,205,570 (GRCm39)	L29P	probably damaging	Het
Anxa9	A	T	3: 95,209,716 (GRCm39)	D134E	probably benign	Het
Atad1	A	T	19: 32,684,355 (GRCm39)	N14K	probably benign	Het
Cbl	T	C	9: 44,070,147 (GRCm39)	I533M	possibly damaging	Het
Cdca2	T	C	14: 67,935,612 (GRCm39)	N368D	possibly damaging	Het
Cfap45	A	T	1: 172,373,291 (GRCm39)	N543Y	possibly damaging	Het
Col4a2	T	A	8: 11,363,414 (GRCm39)		probably benign	Het
Dis3l	T	C	9: 64,219,032 (GRCm39)	T633A	probably benign	Het
Dnah5	G	A	15: 28,438,237 (GRCm39)		probably benign	Het
Fut2	A	T	7: 45,300,091 (GRCm39)	L227Q	probably damaging	Het
Gcnt2	T	C	13: 41,014,654 (GRCm39)	V275A	probably benign	Het
Glrp1	C	A	1: 88,430,976 (GRCm39)	Q131H	unknown	Het
Gm6871	T	C	7: 41,223,079 (GRCm39)	N3S	probably benign	Het
Hmgcs1	C	T	13: 120,166,614 (GRCm39)	T402I	probably benign	Het
Hps6	A	G	19: 45,992,180 (GRCm39)	D39G	probably damaging	Het
Mab21l4	T	A	1: 93,087,764 (GRCm39)	I30F	possibly damaging	Het
Mycbp2	A	T	14: 103,446,179 (GRCm39)		probably benign	Het
Myh6	A	G	14: 55,182,125 (GRCm39)	I1761T	probably damaging	Het
Neo1	T	C	9: 58,796,262 (GRCm39)		probably null	Het
Or4k15c	T	C	14: 50,321,982 (GRCm39)	D52G	probably benign	Het
Or7g27	A	G	9: 19,250,720 (GRCm39)		probably null	Het
Patj	A	G	4: 98,562,465 (GRCm39)	E1478G	probably damaging	Het
Paxbp1	T	C	16: 90,832,878 (GRCm39)	T304A	probably benign	Het
Rbp3	A	T	14: 33,679,071 (GRCm39)	K1006N	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rusc1	T	C	3: 88,999,038 (GRCm39)	D248G	probably benign	Het
Secisbp2	A	G	13: 51,816,711 (GRCm39)	T288A	probably benign	Het
Setbp1	A	G	18: 78,902,518 (GRCm39)	V383A	probably benign	Het
Sez6	T	A	11: 77,844,605 (GRCm39)	S143T	possibly damaging	Het
Slc5a9	A	T	4: 111,747,421 (GRCm39)	I322N	possibly damaging	Het
Szt2	A	G	4: 118,260,016 (GRCm39)		probably null	Het
Tex2	A	G	11: 106,424,695 (GRCm39)		probably null	Het
Tonsl	A	T	15: 76,523,721 (GRCm39)	L64Q	probably damaging	Het
Triml2	A	G	8: 43,640,716 (GRCm39)	N191D	probably benign	Het
Trpc1	C	T	9: 95,603,185 (GRCm39)		probably null	Het
Yeats4	C	T	10: 117,058,186 (GRCm39)	V22I	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTACGTCACACAGTTCCACG -3'
(R):5'- CCCTTCAGGTCACATGTAAAAC -3'

Sequencing Primer
(F):5'- GTAAAGCACCACGGGCCTTC -3'
(R):5'- TCAGGTCACATGTAAAACCCTTAGG -3'

Posted On

2015-02-05