Incidental Mutation 'R1368:Ror1'
ID |
155867 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ror1
|
Ensembl Gene |
ENSMUSG00000035305 |
Gene Name |
receptor tyrosine kinase-like orphan receptor 1 |
Synonyms |
Ntrkr1, 2810404D04Rik |
MMRRC Submission |
039433-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1368 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
99952988-100301962 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 100298334 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 569
(P569L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039630]
|
AlphaFold |
Q9Z139 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039630
AA Change: P569L
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000048171 Gene: ENSMUSG00000035305 AA Change: P569L
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 |
|
Meta Mutation Damage Score |
0.8042 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
98% (55/56) |
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 |
Abca13 |
A |
G |
11: 9,241,836 (GRCm39) |
D1233G |
probably benign |
Het |
Abcc8 |
G |
A |
7: 45,772,284 (GRCm39) |
R832W |
probably damaging |
Het |
Atp10b |
A |
G |
11: 43,092,981 (GRCm39) |
T439A |
probably damaging |
Het |
Brd10 |
C |
A |
19: 29,693,796 (GRCm39) |
S1966I |
probably damaging |
Het |
C130073F10Rik |
T |
A |
4: 101,747,953 (GRCm39) |
N74Y |
possibly damaging |
Het |
Cct8 |
G |
A |
16: 87,288,200 (GRCm39) |
S124L |
probably damaging |
Het |
Cdh9 |
T |
A |
15: 16,848,568 (GRCm39) |
|
probably benign |
Het |
Cep290 |
C |
T |
10: 100,330,828 (GRCm39) |
|
probably benign |
Het |
Chrng |
T |
A |
1: 87,133,575 (GRCm39) |
L10H |
probably damaging |
Het |
Cnn3 |
T |
C |
3: 121,250,786 (GRCm39) |
L189S |
probably benign |
Het |
Cog4 |
A |
G |
8: 111,585,157 (GRCm39) |
|
probably benign |
Het |
Cxcl12 |
A |
G |
6: 117,153,111 (GRCm39) |
|
probably benign |
Het |
Eif2b2 |
G |
A |
12: 85,270,230 (GRCm39) |
A257T |
probably damaging |
Het |
Entrep2 |
A |
T |
7: 64,469,625 (GRCm39) |
V41E |
probably damaging |
Het |
Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
Fcgbpl1 |
A |
G |
7: 27,858,903 (GRCm39) |
Q2341R |
possibly damaging |
Het |
Fktn |
G |
A |
4: 53,734,880 (GRCm39) |
G173R |
probably damaging |
Het |
Gabbr2 |
T |
C |
4: 46,674,464 (GRCm39) |
N841S |
probably benign |
Het |
Gm5622 |
T |
A |
14: 51,899,647 (GRCm39) |
V167E |
possibly damaging |
Het |
Gnaq |
T |
C |
19: 16,355,651 (GRCm39) |
V289A |
probably benign |
Het |
Gpatch2l |
T |
G |
12: 86,307,439 (GRCm39) |
D272E |
possibly damaging |
Het |
Gzmg |
G |
A |
14: 56,395,263 (GRCm39) |
T74I |
probably benign |
Het |
Ikzf2 |
G |
A |
1: 69,578,474 (GRCm39) |
A271V |
possibly damaging |
Het |
Lig4 |
T |
C |
8: 10,021,176 (GRCm39) |
D868G |
possibly damaging |
Het |
Mfsd6 |
T |
C |
1: 52,747,764 (GRCm39) |
E367G |
possibly damaging |
Het |
Mpz |
T |
C |
1: 170,987,533 (GRCm39) |
L223P |
probably damaging |
Het |
Muc17 |
T |
C |
5: 137,175,674 (GRCm39) |
|
probably benign |
Het |
Or2f1b |
C |
A |
6: 42,739,613 (GRCm39) |
T209K |
possibly damaging |
Het |
Pdcd2 |
G |
T |
17: 15,746,846 (GRCm39) |
N104K |
probably damaging |
Het |
Pigg |
G |
T |
5: 108,465,154 (GRCm39) |
G129V |
probably damaging |
Het |
Ppp3cc |
T |
C |
14: 70,483,311 (GRCm39) |
Y254C |
probably damaging |
Het |
Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
Psg23 |
A |
G |
7: 18,348,645 (GRCm39) |
V54A |
probably benign |
Het |
Psmd3 |
A |
G |
11: 98,573,746 (GRCm39) |
D64G |
probably damaging |
Het |
Psmg2 |
CTTCAGTT |
CTTCAGTTCAGTT |
18: 67,779,095 (GRCm39) |
|
probably null |
Het |
Ptgdr |
T |
A |
14: 45,090,799 (GRCm39) |
I320F |
probably damaging |
Het |
Rad50 |
T |
A |
11: 53,574,072 (GRCm39) |
K722* |
probably null |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Rgs9 |
G |
A |
11: 109,138,977 (GRCm39) |
S255L |
probably benign |
Het |
Rsad2 |
T |
C |
12: 26,497,147 (GRCm39) |
|
probably null |
Het |
Scn8a |
A |
G |
15: 100,933,422 (GRCm39) |
D1501G |
probably damaging |
Het |
Sema3c |
A |
G |
5: 17,883,330 (GRCm39) |
T313A |
possibly damaging |
Het |
Serpinc1 |
T |
A |
1: 160,821,094 (GRCm39) |
F59L |
probably damaging |
Het |
Sike1 |
A |
G |
3: 102,903,500 (GRCm39) |
D63G |
possibly damaging |
Het |
Slc25a11 |
T |
A |
11: 70,536,352 (GRCm39) |
|
probably null |
Het |
Slc32a1 |
A |
G |
2: 158,453,240 (GRCm39) |
M27V |
probably benign |
Het |
Smc5 |
A |
G |
19: 23,187,807 (GRCm39) |
V1003A |
probably damaging |
Het |
Tll2 |
G |
A |
19: 41,108,667 (GRCm39) |
R328C |
probably damaging |
Het |
Topaz1 |
A |
G |
9: 122,577,315 (GRCm39) |
E75G |
possibly damaging |
Het |
Tspan3 |
A |
T |
9: 56,054,783 (GRCm39) |
V48E |
probably benign |
Het |
Ugt1a6b |
T |
C |
1: 88,035,358 (GRCm39) |
I232T |
probably benign |
Het |
Unc79 |
A |
G |
12: 103,122,772 (GRCm39) |
K2290E |
probably damaging |
Het |
Vmn1r19 |
T |
C |
6: 57,381,656 (GRCm39) |
F70L |
probably benign |
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 |
IGL02002:Ror1
|
APN |
4 |
100,298,381 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCCCAGCAGTGGACAGAATTTCAAC -3'
(R):5'- TTGCCGTACATGATGGCCTCAG -3'
Sequencing Primer
(F):5'- GAATTTCAACAGGAAGCCTCTCTC -3'
(R):5'- GGCAGTGAAGACTTACTCTGTACC -3'
|
Posted On |
2014-02-11 |