Mutagenetix > Incidental Mutations

Incidental Mutation 'R7134:Ror2'

552939

Institutional Source

Beutler Lab

Gene Symbol

Ror2

Ensembl Gene

ENSMUSG00000021464

Gene Name

receptor tyrosine kinase-like orphan receptor 2

Synonyms

Ntrkr2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53109312-53286124 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53146706 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 35 (V35M)

Ref Sequence

ENSEMBL: ENSMUSP00000021918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021918] [ENSMUST00000130235]

Predicted Effect

probably benign
Transcript: ENSMUST00000021918
AA Change: V35M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021918
Gene: ENSMUSG00000021464
AA Change: V35M

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 benign
Transcript: ENSMUST00000130235
AA Change: V23M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000123362
Gene: ENSMUSG00000021464
AA Change: V23M

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (84/85)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	G	17: 35,959,252	F638S	possibly damaging	Het
Actl6b	T	A	5: 137,564,500	N159K	probably damaging	Het
Adam6a	T	G	12: 113,545,035	S343A	probably benign	Het
Ankrd17	G	A	5: 90,232,314	T2505I	probably damaging	Het
Ankrd17	T	C	5: 90,285,523	T728A	probably benign	Het
Asap2	G	T	12: 21,265,963	E919*	probably null	Het
Atp10b	A	T	11: 43,245,464	I1140F	probably damaging	Het
Cep126	A	T	9: 8,103,382	V209E	probably damaging	Het
Cfap65	C	T	1: 74,926,633	R406Q	probably benign	Het
Cldn1	T	C	16: 26,371,626	M1V	probably null	Het
Cryl1	C	T	14: 57,275,499	D304N	probably benign	Het
D3Ertd751e	T	C	3: 41,753,777		probably null	Het
D630044L22Rik	A	T	17: 25,962,116	M156L	probably benign	Het
Ddx21	T	C	10: 62,591,855	D423G	possibly damaging	Het
Dock2	T	A	11: 34,310,363	M993L	probably benign	Het
Dupd1	A	T	14: 21,677,061	I173N	probably damaging	Het
Eif4g1	C	T	16: 20,681,502	A675V	probably damaging	Het
Eml1	C	T	12: 108,506,551	S206L	probably benign	Het
Farp2	A	C	1: 93,603,459	I560L	probably benign	Het
Fbn1	A	T	2: 125,382,049	D593E	probably benign	Het
Fetub	A	G	16: 22,929,257	D61G	possibly damaging	Het
Fpgs	T	C	2: 32,686,629	K329E	probably benign	Het
Fpgt	T	C	3: 155,091,483	Y45C	probably damaging	Het
Gas2l1	A	T	11: 5,061,106	C574*	probably null	Het
Gm13212	T	A	4: 145,622,805	C271S	possibly damaging	Het
Gm6460	C	T	5: 11,597,739	T148I	possibly damaging	Het
Gm9747	G	T	1: 82,234,116	C12F	unknown	Het
H2-T23	T	C	17: 36,031,817	Y143C	probably damaging	Het
Hhip	A	T	8: 79,992,513	S462T	probably benign	Het
Hnf1a	C	T	5: 114,953,387	G416R	probably damaging	Het
Hoxa5	C	T	6: 52,204,043	C103Y	probably damaging	Het
Kansl3	G	T	1: 36,351,767	D395E	possibly damaging	Het
March10	A	G	11: 105,408,676	S116P	probably benign	Het
Med12l	C	T	3: 59,093,759	Q748*	probably null	Het
Mroh7	T	A	4: 106,720,594	N296Y	probably damaging	Het
Mtbp	T	G	15: 55,558,565	D61E	probably benign	Het
Muc5b	A	T	7: 141,857,654	I1446L	unknown	Het
Myh15	T	C	16: 49,081,342	V266A	possibly damaging	Het
Nap1l1	G	A	10: 111,494,794		probably null	Het
Napsa	A	G	7: 44,585,735	T315A	probably benign	Het
Nlrc5	A	T	8: 94,479,722	I734F	probably damaging	Het
Nnt	A	G	13: 119,394,662	V183A	probably damaging	Het
Nploc4	A	T	11: 120,385,788	D477E	probably benign	Het
Nrip3	A	G	7: 109,765,488	S144P	probably damaging	Het
Ntng1	A	T	3: 109,935,129	F109L	probably benign	Het
Olfr110	T	A	17: 37,498,885	V78D	probably damaging	Het
Olfr303	G	A	7: 86,395,544		probably benign	Het
Olfr485	A	G	7: 108,159,676	Y66H	probably damaging	Het
Olfr883	A	G	9: 38,026,499	E231G	probably benign	Het
Pacsin1	G	A	17: 27,702,733	D30N	probably damaging	Het
Pbld2	A	T	10: 63,024,589		probably benign	Het
Pcnx4	C	T	12: 72,566,976	T565I	probably damaging	Het
Pdzk1	A	T	3: 96,855,930	T225S	probably benign	Het
Phyhip	T	G	14: 70,467,199	I286S	probably benign	Het
Pkd1	T	A	17: 24,594,112	Y3903N	probably damaging	Het
Plcb3	A	T	19: 6,965,330	L222Q	probably damaging	Het
Plcd4	T	A	1: 74,554,503	H262Q	probably benign	Het
Plekhh1	C	T	12: 79,062,616	A474V	probably benign	Het
Plppr3	T	C	10: 79,865,703	E435G	probably damaging	Het
Poln	T	A	5: 34,118,996	N305I	possibly damaging	Het
Pou3f2	T	C	4: 22,486,874	T420A	probably benign	Het
Ppdpf	T	C	2: 181,187,730	Y17H	probably damaging	Het
Prrx2	C	A	2: 30,878,473	T104K	probably damaging	Het
Ptprj	A	T	2: 90,464,478	L462H	probably benign	Het
Radil	T	C	5: 142,485,549	T991A	probably damaging	Het
Rbsn	T	C	6: 92,201,627	E147G	probably damaging	Het
Rps6ka1	T	C	4: 133,872,062	Q18R	probably benign	Het
Setbp1	T	A	18: 78,859,519	D311V	possibly damaging	Het
Setd2	C	T	9: 110,548,797	S560L	possibly damaging	Het
Slc12a5	A	T	2: 164,974,958	I134F	probably damaging	Het
Svil	A	G	18: 5,116,080	D2035G	probably damaging	Het
Syngap1	T	C	17: 26,960,011	Y665H	probably damaging	Het
Tbc1d9b	T	C	11: 50,152,692	Y547H	possibly damaging	Het
Tgm2	A	G	2: 158,138,892	V83A	probably benign	Het
Tmem233	T	C	5: 116,051,370	I117V	probably benign	Het
Tsen34	A	G	7: 3,700,641	T293A	probably damaging	Het
Ttn	A	G	2: 76,878,679	V8752A	unknown	Het
Ubac1	A	G	2: 26,014,962	V88A	probably benign	Het
Uchl4	T	C	9: 64,235,339	V34A	probably damaging	Het
Ugt2a2	C	T	5: 87,460,576	R468H	probably benign	Het
Vmn2r102	A	T	17: 19,677,487	T255S	probably benign	Het
Wdr6	T	A	9: 108,573,365	N988I	probably damaging	Het
Wnk1	A	T	6: 119,926,428	I2359N	unknown	Het
Ybey	A	G	10: 76,468,191	V59A	probably benign	Het
Zfp397	A	G	18: 23,957,065	N142S	probably benign	Het
Zfy1	A	T	Y: 725,788	V659E	probably damaging	Het

Other mutations in Ror2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Ror2	APN	13	53113082	missense	probably benign	0.01
IGL01523:Ror2	APN	13	53118963	missense	probably benign	0.02
IGL01599:Ror2	APN	13	53111617	missense	probably damaging	1.00
IGL01669:Ror2	APN	13	53111088	missense	probably damaging	1.00
IGL02016:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02138:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02139:Ror2	APN	13	53111164	missense	probably damaging	1.00
IGL02172:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02173:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02176:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02177:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02178:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02179:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02182:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02189:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02190:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02203:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02230:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02231:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02234:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02423:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02424:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02478:Ror2	APN	13	53121667	missense	probably damaging	1.00
IGL02479:Ror2	APN	13	53131932	missense	possibly damaging	0.62
IGL02517:Ror2	APN	13	53118840	missense	probably damaging	1.00
IGL02554:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02618:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02619:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02622:Ror2	APN	13	53110728	missense	probably damaging	1.00
IGL02623:Ror2	APN	13	53110728	missense	probably damaging	1.00
willowy	UTSW	13	53131919	missense	probably damaging	1.00
R0076:Ror2	UTSW	13	53113074	missense	probably benign	0.02
R0375:Ror2	UTSW	13	53132004	missense	probably damaging	1.00
R0826:Ror2	UTSW	13	53113217	missense	probably damaging	1.00
R1823:Ror2	UTSW	13	53110305	missense	probably benign	0.07
R1895:Ror2	UTSW	13	53131849	missense	probably damaging	1.00
R1946:Ror2	UTSW	13	53131849	missense	probably damaging	1.00
R1983:Ror2	UTSW	13	53110408	missense	probably benign	0.01
R2031:Ror2	UTSW	13	53117330	missense	probably benign	0.01
R2197:Ror2	UTSW	13	53285780	critical splice donor site	probably null
R2246:Ror2	UTSW	13	53111602	missense	probably damaging	1.00
R2405:Ror2	UTSW	13	53130944	missense	possibly damaging	0.67
R2411:Ror2	UTSW	13	53130944	missense	possibly damaging	0.67
R2905:Ror2	UTSW	13	53131995	missense	probably benign	0.01
R3156:Ror2	UTSW	13	53117364	missense	probably damaging	0.98
R4198:Ror2	UTSW	13	53110644	missense	probably benign	0.08
R4408:Ror2	UTSW	13	53118961	missense	probably damaging	1.00
R4469:Ror2	UTSW	13	53131980	missense	possibly damaging	0.87
R4648:Ror2	UTSW	13	53285500	nonsense	probably null
R4705:Ror2	UTSW	13	53117297	missense	probably benign	0.00
R4824:Ror2	UTSW	13	53110683	missense	probably benign	0.10
R4831:Ror2	UTSW	13	53118844	missense	probably damaging	0.97
R4951:Ror2	UTSW	13	53117147	missense	probably benign	0.00
R4975:Ror2	UTSW	13	53131918	missense	probably damaging	1.00
R5380:Ror2	UTSW	13	53117149	missense	possibly damaging	0.73
R5469:Ror2	UTSW	13	53117339	missense	probably benign	0.00
R5604:Ror2	UTSW	13	53117165	missense	probably benign	0.01
R6188:Ror2	UTSW	13	53111311	missense	probably damaging	0.98
R6221:Ror2	UTSW	13	53113217	missense	probably damaging	1.00
R6243:Ror2	UTSW	13	53113080	missense	probably benign
R6255:Ror2	UTSW	13	53110542	missense	probably damaging	1.00
R6497:Ror2	UTSW	13	53131919	missense	probably damaging	1.00
R6717:Ror2	UTSW	13	53118982	missense	probably damaging	1.00
R6918:Ror2	UTSW	13	53111451	missense	probably damaging	0.96
R7092:Ror2	UTSW	13	53110236	missense	probably benign
R7254:Ror2	UTSW	13	53118720	missense	possibly damaging	0.72
R7517:Ror2	UTSW	13	53110865	missense	possibly damaging	0.86
R7560:Ror2	UTSW	13	53110813	missense	probably benign	0.05
R7746:Ror2	UTSW	13	53117225	missense	probably damaging	1.00
R8031:Ror2	UTSW	13	53113157	missense	not run

Predicted Primers

PCR Primer
(F):5'- ATCATCCACTTGATCGGGCAG -3'
(R):5'- ATAGAGGGCTTCTTTCCCAAGTG -3'

Sequencing Primer
(F):5'- ACTTGATCGGGCAGGTCCAG -3'
(R):5'- TCCCAAGTGCTGCTGGTCTG -3'

Posted On

2019-05-15