Incidental Mutation 'R4599:Ror1'
ID |
345417 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ror1
|
Ensembl Gene |
ENSMUSG00000035305 |
Gene Name |
receptor tyrosine kinase-like orphan receptor 1 |
Synonyms |
Ntrkr1, 2810404D04Rik |
MMRRC Submission |
041815-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4599 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
99952988-100301962 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100265107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 194
(M194V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039630]
|
AlphaFold |
Q9Z139 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039630
AA Change: M194V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000048171 Gene: ENSMUSG00000035305 AA Change: M194V
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
T |
C |
7: 119,854,626 (GRCm39) |
V930A |
probably benign |
Het |
Ankrd13b |
T |
C |
11: 77,362,494 (GRCm39) |
R677G |
probably benign |
Het |
Apc |
T |
A |
18: 34,451,040 (GRCm39) |
Y2611* |
probably null |
Het |
Apold1 |
A |
G |
6: 134,961,032 (GRCm39) |
Y162C |
probably damaging |
Het |
Atp6v0a4 |
T |
C |
6: 38,055,737 (GRCm39) |
I325V |
probably benign |
Het |
Cab39 |
A |
G |
1: 85,776,050 (GRCm39) |
Y249C |
probably damaging |
Het |
Cd22 |
T |
A |
7: 30,575,325 (GRCm39) |
H239L |
probably damaging |
Het |
Chrna7 |
A |
G |
7: 62,753,538 (GRCm39) |
M327T |
probably damaging |
Het |
Cimip2b |
T |
C |
4: 43,427,574 (GRCm39) |
H250R |
possibly damaging |
Het |
Clock |
T |
C |
5: 76,383,657 (GRCm39) |
M499V |
probably benign |
Het |
Clspn |
A |
G |
4: 126,475,253 (GRCm39) |
E1002G |
probably benign |
Het |
Clta |
C |
T |
4: 44,012,819 (GRCm39) |
P10S |
probably damaging |
Het |
Col5a3 |
A |
G |
9: 20,685,855 (GRCm39) |
|
probably null |
Het |
Coq6 |
T |
C |
12: 84,408,913 (GRCm39) |
V30A |
probably benign |
Het |
Csmd2 |
G |
T |
4: 127,881,921 (GRCm39) |
R20L |
probably benign |
Het |
D430041D05Rik |
A |
T |
2: 104,038,528 (GRCm39) |
V1547D |
probably damaging |
Het |
Dapk1 |
C |
T |
13: 60,865,861 (GRCm39) |
P153S |
probably benign |
Het |
Dock2 |
T |
A |
11: 34,189,536 (GRCm39) |
Y1545F |
probably damaging |
Het |
Dpp6 |
G |
T |
5: 27,839,546 (GRCm39) |
G354C |
probably damaging |
Het |
Dyrk1b |
T |
C |
7: 27,881,856 (GRCm39) |
L105P |
probably damaging |
Het |
Epor |
A |
G |
9: 21,873,155 (GRCm39) |
S86P |
probably benign |
Het |
Gale |
C |
A |
4: 135,695,148 (GRCm39) |
S341* |
probably null |
Het |
Galnt4 |
T |
A |
10: 98,945,355 (GRCm39) |
V360E |
probably damaging |
Het |
Gart |
A |
T |
16: 91,419,833 (GRCm39) |
C24* |
probably null |
Het |
Gcnt2 |
G |
T |
13: 41,040,966 (GRCm39) |
V42L |
probably benign |
Het |
Herc6 |
A |
G |
6: 57,636,698 (GRCm39) |
I805V |
probably benign |
Het |
Ints12 |
T |
A |
3: 132,804,214 (GRCm39) |
I67N |
probably benign |
Het |
Irx1 |
C |
A |
13: 72,108,232 (GRCm39) |
R150L |
probably damaging |
Het |
Kif26b |
A |
G |
1: 178,358,024 (GRCm39) |
Y45C |
unknown |
Het |
Krt35 |
T |
C |
11: 99,984,834 (GRCm39) |
T275A |
probably damaging |
Het |
Laptm5 |
G |
T |
4: 130,643,316 (GRCm39) |
|
probably benign |
Het |
Lin7a |
T |
C |
10: 107,248,027 (GRCm39) |
S111P |
unknown |
Het |
Med27 |
A |
G |
2: 29,414,470 (GRCm39) |
D159G |
probably damaging |
Het |
Msh2 |
A |
G |
17: 88,016,006 (GRCm39) |
K546R |
probably damaging |
Het |
Myo1a |
A |
T |
10: 127,556,020 (GRCm39) |
|
probably null |
Het |
Myo1c |
T |
C |
11: 75,559,019 (GRCm39) |
F604L |
probably damaging |
Het |
Myrip |
A |
G |
9: 120,293,850 (GRCm39) |
K782E |
probably damaging |
Het |
Ndc80 |
T |
C |
17: 71,828,063 (GRCm39) |
D88G |
probably damaging |
Het |
Nrxn2 |
A |
G |
19: 6,505,282 (GRCm39) |
D375G |
probably damaging |
Het |
Or2y10 |
T |
C |
11: 49,455,545 (GRCm39) |
S266P |
probably damaging |
Het |
Or52e7 |
A |
G |
7: 104,685,280 (GRCm39) |
I292V |
probably benign |
Het |
Padi3 |
T |
C |
4: 140,525,422 (GRCm39) |
H187R |
probably damaging |
Het |
Pcdhgb1 |
A |
T |
18: 37,814,610 (GRCm39) |
N367I |
probably damaging |
Het |
Pdrg1 |
T |
C |
2: 152,854,310 (GRCm39) |
I77V |
probably benign |
Het |
Pfas |
T |
C |
11: 68,881,895 (GRCm39) |
E930G |
probably benign |
Het |
Pik3cb |
C |
T |
9: 98,943,817 (GRCm39) |
R662Q |
probably benign |
Het |
Pla2g4e |
T |
G |
2: 120,016,863 (GRCm39) |
H226P |
possibly damaging |
Het |
Plxnd1 |
A |
T |
6: 115,971,237 (GRCm39) |
V177E |
probably damaging |
Het |
Prmt7 |
A |
G |
8: 106,976,961 (GRCm39) |
S558G |
possibly damaging |
Het |
Pspc1 |
A |
C |
14: 57,015,246 (GRCm39) |
|
probably null |
Het |
Rilp |
T |
C |
11: 75,403,586 (GRCm39) |
S343P |
probably benign |
Het |
Rsu1 |
T |
C |
2: 13,174,815 (GRCm39) |
Y225C |
probably damaging |
Het |
Rundc1 |
A |
G |
11: 101,324,752 (GRCm39) |
N486S |
probably damaging |
Het |
Sema6d |
T |
A |
2: 124,496,151 (GRCm39) |
I65N |
probably damaging |
Het |
Slc5a11 |
A |
G |
7: 122,857,601 (GRCm39) |
E230G |
probably benign |
Het |
Spint1 |
T |
C |
2: 119,076,941 (GRCm39) |
S342P |
probably damaging |
Het |
Stard3nl |
A |
G |
13: 19,551,923 (GRCm39) |
S214P |
probably damaging |
Het |
Tcp10a |
A |
C |
17: 7,604,323 (GRCm39) |
T271P |
probably damaging |
Het |
Tie1 |
A |
G |
4: 118,329,831 (GRCm39) |
Y1091H |
probably benign |
Het |
Tlr12 |
T |
C |
4: 128,511,125 (GRCm39) |
Y375C |
probably benign |
Het |
Tmem107 |
T |
A |
11: 68,962,274 (GRCm39) |
M77K |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tns3 |
T |
C |
11: 8,481,747 (GRCm39) |
K202E |
probably damaging |
Het |
Tspoap1 |
C |
T |
11: 87,670,347 (GRCm39) |
P1634L |
probably damaging |
Het |
Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
Ush2a |
A |
G |
1: 188,643,844 (GRCm39) |
N4402S |
probably benign |
Het |
Vmn2r13 |
A |
T |
5: 109,304,322 (GRCm39) |
I703N |
probably damaging |
Het |
Xrcc4 |
A |
G |
13: 90,210,126 (GRCm39) |
|
probably null |
Het |
Zp3 |
A |
T |
5: 136,013,089 (GRCm39) |
K168* |
probably null |
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 |
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 |
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'- GCATTGCAAAGCCAGAGTG -3'
(R):5'- TGTGAGACTTCTCGAAGCTTCC -3'
Sequencing Primer
(F):5'- CATTGCAAAGCCAGAGTGAGTAGTG -3'
(R):5'- GAGCACAGAGATCACATCTTATGC -3'
|
Posted On |
2015-09-25 |