Incidental Mutation 'IGL02002:Ror1'
ID |
183087 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ror1
|
Ensembl Gene |
ENSMUSG00000035305 |
Gene Name |
receptor tyrosine kinase-like orphan receptor 1 |
Synonyms |
Ntrkr1, 2810404D04Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02002
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
99952988-100301962 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 100298381 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 585
(S585T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039630]
|
AlphaFold |
Q9Z139 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039630
AA Change: S585T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048171 Gene: ENSMUSG00000035305 AA Change: S585T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
IGc2
|
70 |
138 |
8.37e-15 |
SMART |
Pfam:Fz
|
170 |
290 |
4.9e-13 |
PFAM |
KR
|
311 |
393 |
7.57e-47 |
SMART |
transmembrane domain
|
404 |
426 |
N/A |
INTRINSIC |
TyrKc
|
473 |
746 |
2.46e-137 |
SMART |
low complexity region
|
753 |
762 |
N/A |
INTRINSIC |
low complexity region
|
817 |
828 |
N/A |
INTRINSIC |
low complexity region
|
849 |
864 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a receptor tyrosine kinase that has been implicated in nervous system development, specifically in the maintenance of neural progenitor cell fate, neurite extension and synapse formation. The encoded protein, likely a pseudokinase that lacks catalytic activity, may also regulate adipogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] PHENOTYPE: Mice homozygous for some disruptions in this gene die within the first day after birth from respiratory defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
G |
T |
17: 84,989,479 (GRCm39) |
Y76* |
probably null |
Het |
Acadsb |
T |
A |
7: 131,030,258 (GRCm39) |
V135E |
probably damaging |
Het |
Acap1 |
A |
G |
11: 69,775,286 (GRCm39) |
Y326H |
probably damaging |
Het |
Actl11 |
T |
A |
9: 107,806,529 (GRCm39) |
V284D |
probably benign |
Het |
Adcy10 |
G |
T |
1: 165,349,412 (GRCm39) |
D428Y |
probably damaging |
Het |
Akap8 |
A |
G |
17: 32,528,470 (GRCm39) |
C481R |
probably damaging |
Het |
Amotl2 |
G |
A |
9: 102,602,316 (GRCm39) |
A26T |
probably damaging |
Het |
Apob |
T |
C |
12: 8,044,822 (GRCm39) |
V814A |
probably benign |
Het |
Casp8ap2 |
T |
A |
4: 32,639,391 (GRCm39) |
N148K |
probably damaging |
Het |
Ccdc149 |
G |
A |
5: 52,563,421 (GRCm39) |
T124M |
probably damaging |
Het |
Cd320 |
A |
G |
17: 34,062,214 (GRCm39) |
|
probably benign |
Het |
Clca4b |
T |
C |
3: 144,638,194 (GRCm39) |
T23A |
probably benign |
Het |
Col22a1 |
A |
G |
15: 71,682,946 (GRCm39) |
|
probably benign |
Het |
Col24a1 |
T |
A |
3: 145,062,699 (GRCm39) |
F675I |
possibly damaging |
Het |
Col6a3 |
A |
G |
1: 90,709,858 (GRCm39) |
|
probably benign |
Het |
Dap3 |
A |
T |
3: 88,843,535 (GRCm39) |
M19K |
probably benign |
Het |
Dsg2 |
A |
G |
18: 20,712,233 (GRCm39) |
D123G |
probably damaging |
Het |
Dysf |
T |
A |
6: 84,187,769 (GRCm39) |
|
probably benign |
Het |
Erbb4 |
A |
G |
1: 68,119,885 (GRCm39) |
S853P |
probably damaging |
Het |
Fbn2 |
A |
G |
18: 58,247,625 (GRCm39) |
M423T |
probably benign |
Het |
Fcgbpl1 |
A |
T |
7: 27,852,221 (GRCm39) |
Y1248F |
probably damaging |
Het |
Fgfr1 |
T |
C |
8: 26,045,727 (GRCm39) |
Y112H |
probably damaging |
Het |
Gbp7 |
G |
A |
3: 142,244,661 (GRCm39) |
A203T |
probably damaging |
Het |
Gon4l |
C |
T |
3: 88,802,643 (GRCm39) |
P1085S |
possibly damaging |
Het |
Gsdma2 |
T |
C |
11: 98,541,800 (GRCm39) |
F176L |
probably damaging |
Het |
Haghl |
A |
G |
17: 26,003,239 (GRCm39) |
F131S |
probably damaging |
Het |
Hmcn1 |
G |
A |
1: 150,491,049 (GRCm39) |
P4167S |
probably damaging |
Het |
Hscb |
T |
C |
5: 110,978,820 (GRCm39) |
N199D |
probably benign |
Het |
Lmbr1l |
T |
A |
15: 98,802,666 (GRCm39) |
N428Y |
probably damaging |
Het |
Mc2r |
T |
A |
18: 68,540,505 (GRCm39) |
M263L |
probably benign |
Het |
Metap1 |
T |
A |
3: 138,168,150 (GRCm39) |
T325S |
probably damaging |
Het |
Mff |
A |
G |
1: 82,719,696 (GRCm39) |
R225G |
probably damaging |
Het |
Naprt |
A |
T |
15: 75,763,221 (GRCm39) |
L474Q |
probably damaging |
Het |
Nin |
A |
T |
12: 70,109,473 (GRCm39) |
Y155* |
probably null |
Het |
Nrg3 |
A |
T |
14: 38,092,724 (GRCm39) |
C612* |
probably null |
Het |
Or2aj5 |
T |
C |
16: 19,425,300 (GRCm39) |
I39M |
possibly damaging |
Het |
Or5p52 |
A |
T |
7: 107,502,497 (GRCm39) |
D191V |
possibly damaging |
Het |
Or6c35 |
T |
A |
10: 129,168,996 (GRCm39) |
I82K |
probably damaging |
Het |
Pdilt |
A |
T |
7: 119,099,667 (GRCm39) |
F200L |
probably damaging |
Het |
Ppard |
T |
G |
17: 28,517,877 (GRCm39) |
F315C |
probably damaging |
Het |
Spdye4a |
T |
A |
5: 143,211,460 (GRCm39) |
I35F |
possibly damaging |
Het |
Tenm2 |
T |
C |
11: 36,097,922 (GRCm39) |
K442R |
probably benign |
Het |
Tln2 |
A |
G |
9: 67,263,980 (GRCm39) |
I553T |
probably damaging |
Het |
Tmem269 |
T |
A |
4: 119,071,338 (GRCm39) |
I26F |
probably benign |
Het |
Tsen2 |
T |
C |
6: 115,536,568 (GRCm39) |
V108A |
probably benign |
Het |
Ttyh3 |
A |
T |
5: 140,615,238 (GRCm39) |
D383E |
probably damaging |
Het |
Tut7 |
A |
G |
13: 59,929,910 (GRCm39) |
S1042P |
possibly damaging |
Het |
Usp13 |
T |
C |
3: 32,901,974 (GRCm39) |
S102P |
probably damaging |
Het |
Vmn2r118 |
T |
G |
17: 55,899,619 (GRCm39) |
S762R |
probably damaging |
Het |
Washc4 |
A |
G |
10: 83,415,407 (GRCm39) |
N799S |
possibly damaging |
Het |
Zdhhc17 |
C |
T |
10: 110,803,550 (GRCm39) |
V256I |
probably benign |
Het |
Zfp51 |
T |
A |
17: 21,684,221 (GRCm39) |
F279I |
probably damaging |
Het |
Zzz3 |
A |
G |
3: 152,157,006 (GRCm39) |
T223A |
probably damaging |
Het |
|
Other mutations in Ror1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00838:Ror1
|
APN |
4 |
100,190,940 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00939:Ror1
|
APN |
4 |
100,298,423 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01408:Ror1
|
APN |
4 |
100,190,984 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01678:Ror1
|
APN |
4 |
100,283,165 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL01700:Ror1
|
APN |
4 |
100,266,968 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01985:Ror1
|
APN |
4 |
100,283,161 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02634:Ror1
|
APN |
4 |
100,283,307 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02995:Ror1
|
APN |
4 |
100,191,722 (GRCm39) |
splice site |
probably benign |
|
IGL03033:Ror1
|
APN |
4 |
100,269,092 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL03207:Ror1
|
APN |
4 |
100,265,142 (GRCm39) |
splice site |
probably null |
|
F5770:Ror1
|
UTSW |
4 |
100,298,130 (GRCm39) |
missense |
probably damaging |
0.99 |
R0256:Ror1
|
UTSW |
4 |
100,266,942 (GRCm39) |
missense |
probably benign |
0.20 |
R0417:Ror1
|
UTSW |
4 |
100,269,197 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0525:Ror1
|
UTSW |
4 |
100,298,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R1034:Ror1
|
UTSW |
4 |
100,190,817 (GRCm39) |
nonsense |
probably null |
|
R1278:Ror1
|
UTSW |
4 |
100,299,075 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1368:Ror1
|
UTSW |
4 |
100,298,334 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1437:Ror1
|
UTSW |
4 |
100,269,306 (GRCm39) |
missense |
probably benign |
|
R1441:Ror1
|
UTSW |
4 |
100,298,180 (GRCm39) |
missense |
probably benign |
|
R1544:Ror1
|
UTSW |
4 |
100,299,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R1717:Ror1
|
UTSW |
4 |
100,160,135 (GRCm39) |
missense |
probably benign |
|
R1857:Ror1
|
UTSW |
4 |
100,298,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R2018:Ror1
|
UTSW |
4 |
100,265,038 (GRCm39) |
nonsense |
probably null |
|
R2051:Ror1
|
UTSW |
4 |
100,265,065 (GRCm39) |
nonsense |
probably null |
|
R2127:Ror1
|
UTSW |
4 |
100,299,290 (GRCm39) |
missense |
probably benign |
|
R2132:Ror1
|
UTSW |
4 |
100,267,222 (GRCm39) |
missense |
probably benign |
0.35 |
R2133:Ror1
|
UTSW |
4 |
100,267,222 (GRCm39) |
missense |
probably benign |
0.35 |
R2176:Ror1
|
UTSW |
4 |
100,299,071 (GRCm39) |
missense |
probably damaging |
0.99 |
R2431:Ror1
|
UTSW |
4 |
100,298,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R2896:Ror1
|
UTSW |
4 |
99,953,477 (GRCm39) |
missense |
unknown |
|
R3005:Ror1
|
UTSW |
4 |
100,298,961 (GRCm39) |
missense |
probably damaging |
0.99 |
R3780:Ror1
|
UTSW |
4 |
100,269,314 (GRCm39) |
missense |
probably benign |
0.34 |
R3850:Ror1
|
UTSW |
4 |
100,299,357 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3861:Ror1
|
UTSW |
4 |
100,265,120 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4599:Ror1
|
UTSW |
4 |
100,265,107 (GRCm39) |
missense |
probably damaging |
0.99 |
R4863:Ror1
|
UTSW |
4 |
100,267,001 (GRCm39) |
missense |
probably damaging |
0.99 |
R4871:Ror1
|
UTSW |
4 |
100,283,195 (GRCm39) |
missense |
probably benign |
|
R4990:Ror1
|
UTSW |
4 |
100,299,161 (GRCm39) |
missense |
probably benign |
|
R5023:Ror1
|
UTSW |
4 |
100,283,129 (GRCm39) |
missense |
probably benign |
0.01 |
R5028:Ror1
|
UTSW |
4 |
100,269,133 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5079:Ror1
|
UTSW |
4 |
100,298,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R5294:Ror1
|
UTSW |
4 |
100,283,135 (GRCm39) |
missense |
probably benign |
0.00 |
R5538:Ror1
|
UTSW |
4 |
100,298,208 (GRCm39) |
missense |
probably benign |
|
R6339:Ror1
|
UTSW |
4 |
100,269,128 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6491:Ror1
|
UTSW |
4 |
100,267,109 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6632:Ror1
|
UTSW |
4 |
100,299,303 (GRCm39) |
missense |
probably benign |
|
R6733:Ror1
|
UTSW |
4 |
100,283,252 (GRCm39) |
missense |
probably benign |
|
R7022:Ror1
|
UTSW |
4 |
100,265,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R7054:Ror1
|
UTSW |
4 |
100,299,436 (GRCm39) |
missense |
probably benign |
0.00 |
R7121:Ror1
|
UTSW |
4 |
100,160,142 (GRCm39) |
missense |
probably benign |
0.00 |
R7350:Ror1
|
UTSW |
4 |
100,283,140 (GRCm39) |
missense |
probably benign |
0.00 |
R7492:Ror1
|
UTSW |
4 |
100,298,256 (GRCm39) |
missense |
probably benign |
0.22 |
R7502:Ror1
|
UTSW |
4 |
100,190,827 (GRCm39) |
missense |
probably benign |
0.03 |
R7531:Ror1
|
UTSW |
4 |
100,298,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R7661:Ror1
|
UTSW |
4 |
100,298,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R7822:Ror1
|
UTSW |
4 |
100,298,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R7831:Ror1
|
UTSW |
4 |
100,298,295 (GRCm39) |
missense |
probably benign |
0.01 |
R8366:Ror1
|
UTSW |
4 |
100,267,195 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8539:Ror1
|
UTSW |
4 |
100,299,084 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8757:Ror1
|
UTSW |
4 |
100,298,080 (GRCm39) |
missense |
probably benign |
0.01 |
R8862:Ror1
|
UTSW |
4 |
100,191,715 (GRCm39) |
critical splice donor site |
probably null |
|
R8913:Ror1
|
UTSW |
4 |
100,265,027 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9382:Ror1
|
UTSW |
4 |
100,191,709 (GRCm39) |
missense |
probably benign |
0.00 |
V7580:Ror1
|
UTSW |
4 |
100,298,130 (GRCm39) |
missense |
probably damaging |
0.99 |
V7583:Ror1
|
UTSW |
4 |
100,298,130 (GRCm39) |
missense |
probably damaging |
0.99 |
X0020:Ror1
|
UTSW |
4 |
100,283,287 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Ror1
|
UTSW |
4 |
100,160,116 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2014-05-07 |