Incidental Mutation 'R6221:Ror2'
| ID |
504042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ror2
|
| Ensembl Gene |
ENSMUSG00000021464 |
| Gene Name |
receptor tyrosine kinase-like orphan receptor 2 |
| Synonyms |
Ntrkr2 |
| MMRRC Submission |
044432-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6221 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
53263353-53440160 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53267253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 394
(Y394C)
|
| 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: Y406C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021918
Gene: ENSMUSG00000021464
AA Change: Y406C
| 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: Y394C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123362
Gene: ENSMUSG00000021464
AA Change: Y394C
| 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 |
0.3253 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
99% (66/67) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,824,874 (GRCm39) |
M108V |
probably benign |
Het |
| Adgrl1 |
C |
T |
8: 84,664,316 (GRCm39) |
Q1236* |
probably null |
Het |
| Adprhl1 |
T |
C |
8: 13,275,634 (GRCm39) |
I375V |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,982,765 (GRCm39) |
S3663P |
unknown |
Het |
| Cfap44 |
A |
T |
16: 44,257,549 (GRCm39) |
Q1028L |
probably benign |
Het |
| Cftr |
A |
C |
6: 18,282,500 (GRCm39) |
T1067P |
probably benign |
Het |
| Col1a2 |
T |
C |
6: 4,539,490 (GRCm39) |
S1253P |
unknown |
Het |
| Dkk3 |
A |
G |
7: 111,720,853 (GRCm39) |
Y158H |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,004,799 (GRCm39) |
Y949C |
probably damaging |
Het |
| E130311K13Rik |
T |
C |
3: 63,823,152 (GRCm39) |
Y164C |
probably benign |
Het |
| Evx1 |
T |
A |
6: 52,293,768 (GRCm39) |
V312E |
probably damaging |
Het |
| Fam240b |
T |
C |
13: 64,629,591 (GRCm39) |
N75S |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,186,898 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
G |
T |
2: 125,162,841 (GRCm39) |
D2148E |
probably benign |
Het |
| Fzd4 |
A |
G |
7: 89,054,100 (GRCm39) |
H69R |
probably damaging |
Het |
| Fzd6 |
T |
C |
15: 38,894,239 (GRCm39) |
V135A |
probably benign |
Het |
| Gimap8 |
T |
C |
6: 48,635,876 (GRCm39) |
L547S |
probably damaging |
Het |
| Gnrhr |
G |
A |
5: 86,333,262 (GRCm39) |
Q203* |
probably null |
Het |
| Gpaa1 |
T |
G |
15: 76,218,032 (GRCm39) |
V341G |
probably benign |
Het |
| Grik3 |
T |
A |
4: 125,598,916 (GRCm39) |
L828Q |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,074,383 (GRCm39) |
N1568S |
probably benign |
Het |
| Hpf1 |
T |
A |
8: 61,346,808 (GRCm39) |
V41E |
probably damaging |
Het |
| Hsd3b1 |
A |
T |
3: 98,760,472 (GRCm39) |
M173K |
probably benign |
Het |
| Hsd3b6 |
A |
G |
3: 98,713,849 (GRCm39) |
I150T |
probably benign |
Het |
| Ica1 |
C |
G |
6: 8,644,181 (GRCm39) |
L369F |
possibly damaging |
Het |
| Inf2 |
T |
G |
12: 112,570,179 (GRCm39) |
S293A |
possibly damaging |
Het |
| Klra10 |
T |
C |
6: 130,246,235 (GRCm39) |
T247A |
probably benign |
Het |
| Kpna1 |
G |
A |
16: 35,841,058 (GRCm39) |
G91D |
probably benign |
Het |
| Ldlrap1 |
C |
T |
4: 134,484,671 (GRCm39) |
E108K |
probably damaging |
Het |
| Ltb4r2 |
C |
T |
14: 55,999,540 (GRCm39) |
R54W |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,299,643 (GRCm39) |
F1797S |
probably benign |
Het |
| Mlh3 |
C |
A |
12: 85,315,192 (GRCm39) |
Q331H |
possibly damaging |
Het |
| Nol11 |
G |
T |
11: 107,062,442 (GRCm39) |
T598K |
possibly damaging |
Het |
| Odad1 |
T |
C |
7: 45,596,903 (GRCm39) |
L410P |
probably damaging |
Het |
| Or5b124 |
T |
A |
19: 13,610,830 (GRCm39) |
Y118* |
probably null |
Het |
| Oxct2b |
T |
C |
4: 123,010,601 (GRCm39) |
Y174H |
probably damaging |
Het |
| Pakap |
C |
T |
4: 57,855,618 (GRCm39) |
Q559* |
probably null |
Het |
| Pclo |
G |
A |
5: 14,725,327 (GRCm39) |
R1395Q |
unknown |
Het |
| Ppara |
A |
G |
15: 85,661,881 (GRCm39) |
I41V |
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,657,753 (GRCm39) |
I766K |
probably damaging |
Het |
| Ppm1j |
A |
G |
3: 104,693,092 (GRCm39) |
N483S |
possibly damaging |
Het |
| Prex2 |
T |
C |
1: 11,336,236 (GRCm39) |
I1478T |
probably benign |
Het |
| Rsl1d1 |
A |
G |
16: 11,019,175 (GRCm39) |
V121A |
probably damaging |
Het |
| Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
| Slc15a1 |
T |
C |
14: 121,702,316 (GRCm39) |
Q610R |
probably null |
Het |
| Slc1a6 |
A |
G |
10: 78,635,910 (GRCm39) |
E325G |
probably damaging |
Het |
| Slc7a13 |
A |
G |
4: 19,839,305 (GRCm39) |
I303V |
probably benign |
Het |
| Smc3 |
T |
A |
19: 53,630,362 (GRCm39) |
V1123E |
probably damaging |
Het |
| Smco1 |
G |
A |
16: 32,092,023 (GRCm39) |
V34I |
probably benign |
Het |
| Spag1 |
A |
G |
15: 36,197,949 (GRCm39) |
R304G |
probably benign |
Het |
| Spata31f1e |
A |
T |
4: 42,793,153 (GRCm39) |
N326K |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,009,342 (GRCm39) |
D293G |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,440,639 (GRCm39) |
P1751Q |
probably damaging |
Het |
| Syt14 |
A |
T |
1: 192,612,908 (GRCm39) |
Y631N |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,970 (GRCm39) |
N172S |
possibly damaging |
Het |
| Tank |
A |
G |
2: 61,480,427 (GRCm39) |
E321G |
probably damaging |
Het |
| Tcstv5 |
T |
G |
13: 120,411,534 (GRCm39) |
H24P |
probably damaging |
Het |
| Thbs1 |
C |
A |
2: 117,950,478 (GRCm39) |
L704M |
probably damaging |
Het |
| Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
| Togaram1 |
A |
T |
12: 65,013,320 (GRCm39) |
E190D |
probably damaging |
Het |
| Traf1 |
A |
C |
2: 34,838,313 (GRCm39) |
V175G |
probably benign |
Het |
| Trib3 |
A |
T |
2: 152,180,528 (GRCm39) |
C222S |
probably damaging |
Het |
| Tsen34 |
T |
A |
7: 3,698,543 (GRCm39) |
I229N |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,419,114 (GRCm39) |
D1370G |
probably benign |
Het |
| Ugt1a5 |
G |
A |
1: 88,093,964 (GRCm39) |
R64H |
probably benign |
Het |
| Vdac2 |
G |
A |
14: 21,895,246 (GRCm39) |
G265R |
possibly damaging |
Het |
| Vdac3 |
A |
G |
8: 23,078,759 (GRCm39) |
V17A |
possibly damaging |
Het |
| Yif1b |
C |
T |
7: 28,945,207 (GRCm39) |
T220I |
possibly damaging |
Het |
| Zfp846 |
T |
G |
9: 20,504,591 (GRCm39) |
H150Q |
possibly damaging |
Het |
| Zwilch |
A |
T |
9: 64,068,665 (GRCm39) |
H181Q |
probably damaging |
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 |
|
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 |
|
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'- AGCTGCCTCATTATGGGCTG -3'
(R):5'- AAAGGTTATCAAGGAGCCCTGG -3'
Sequencing Primer
(F):5'- CTCATTATGGGCTGGAGGACC -3'
(R):5'- AGGAGCCCTGGATCAAAAC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation