Incidental Mutation 'R8757:Ror1'
| ID |
671676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ror1
|
| Ensembl Gene |
ENSMUSG00000035305 |
| Gene Name |
receptor tyrosine kinase-like orphan receptor 1 |
| Synonyms |
Ntrkr1, 2810404D04Rik |
| MMRRC Submission |
068621-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8757 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
99952988-100301962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100298080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 484
(F484L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039630]
|
| AlphaFold |
Q9Z139 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039630
AA Change: F484L
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: F484L
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (59/59) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
T |
C |
11: 117,697,112 (GRCm39) |
V237A |
probably benign |
Het |
| Abca15 |
G |
A |
7: 120,006,631 (GRCm39) |
V1632M |
probably damaging |
Het |
| Adam20 |
A |
T |
8: 41,248,943 (GRCm39) |
H351L |
probably benign |
Het |
| Ak9 |
T |
C |
10: 41,299,036 (GRCm39) |
V1579A |
unknown |
Het |
| Apol7e |
T |
C |
15: 77,602,065 (GRCm39) |
V221A |
probably benign |
Het |
| Arid5b |
T |
C |
10: 67,933,640 (GRCm39) |
H754R |
probably damaging |
Het |
| Atp6v0d2 |
T |
A |
4: 19,910,649 (GRCm39) |
R80S |
probably benign |
Het |
| Cers3 |
G |
A |
7: 66,435,850 (GRCm39) |
V270M |
probably damaging |
Het |
| Ces3a |
A |
G |
8: 105,784,129 (GRCm39) |
H443R |
probably damaging |
Het |
| Cnot7 |
A |
G |
8: 40,947,080 (GRCm39) |
V269A |
probably benign |
Het |
| Cntn1 |
T |
G |
15: 92,153,801 (GRCm39) |
F485V |
possibly damaging |
Het |
| Copa |
A |
G |
1: 171,947,081 (GRCm39) |
I1068M |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,261,567 (GRCm39) |
V2612M |
possibly damaging |
Het |
| Dgkz |
T |
C |
2: 91,775,922 (GRCm39) |
T114A |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,586,067 (GRCm39) |
D538E |
probably benign |
Het |
| Epn3 |
C |
A |
11: 94,386,848 (GRCm39) |
G174V |
possibly damaging |
Het |
| Evx2 |
C |
T |
2: 74,486,226 (GRCm39) |
A388T |
probably benign |
Het |
| Fancd2 |
T |
C |
6: 113,537,054 (GRCm39) |
M553T |
possibly damaging |
Het |
| Ficd |
G |
T |
5: 113,876,575 (GRCm39) |
R250L |
probably damaging |
Het |
| Fmo2 |
A |
G |
1: 162,708,005 (GRCm39) |
S377P |
probably benign |
Het |
| Gm19410 |
A |
T |
8: 36,276,119 (GRCm39) |
Q1592L |
possibly damaging |
Het |
| Gm4792 |
T |
A |
10: 94,131,049 (GRCm39) |
T87S |
unknown |
Het |
| Gm8947 |
C |
A |
1: 151,068,809 (GRCm39) |
T214K |
probably benign |
Het |
| H6pd |
C |
T |
4: 150,066,758 (GRCm39) |
V551I |
probably benign |
Het |
| Hace1 |
T |
A |
10: 45,546,539 (GRCm39) |
I391N |
possibly damaging |
Het |
| Heyl |
C |
T |
4: 123,127,666 (GRCm39) |
R3W |
probably damaging |
Het |
| Htr4 |
T |
A |
18: 62,545,335 (GRCm39) |
V40E |
probably damaging |
Het |
| Ighg1 |
A |
T |
12: 113,292,657 (GRCm39) |
L304* |
probably null |
Het |
| Igkv1-135 |
T |
A |
6: 67,587,470 (GRCm39) |
W114R |
possibly damaging |
Het |
| Itga8 |
T |
C |
2: 12,266,940 (GRCm39) |
D165G |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,754,210 (GRCm39) |
V1210E |
unknown |
Het |
| Lipt2 |
GGCGCCCGCGCGCG |
GGCG |
7: 99,808,888 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
A |
G |
11: 103,348,766 (GRCm39) |
V2643A |
unknown |
Het |
| Map4k5 |
A |
G |
12: 69,897,598 (GRCm39) |
|
probably benign |
Het |
| Mecom |
A |
T |
3: 30,292,268 (GRCm39) |
D14E |
|
Het |
| Myo3a |
G |
T |
2: 22,448,319 (GRCm39) |
K969N |
possibly damaging |
Het |
| Nat3 |
T |
C |
8: 68,000,202 (GRCm39) |
I27T |
probably damaging |
Het |
| Nr1d1 |
G |
C |
11: 98,660,073 (GRCm39) |
R484G |
probably damaging |
Het |
| Nr2c1 |
T |
C |
10: 94,031,119 (GRCm39) |
L560P |
probably damaging |
Het |
| Or52e8 |
T |
C |
7: 104,624,325 (GRCm39) |
N293S |
probably damaging |
Het |
| Pik3cg |
T |
C |
12: 32,255,006 (GRCm39) |
D327G |
probably damaging |
Het |
| Ppihl |
A |
T |
5: 44,070,999 (GRCm39) |
N119I |
probably benign |
Het |
| Ppp1r13l |
G |
T |
7: 19,103,981 (GRCm39) |
G154V |
probably damaging |
Het |
| Psmc5 |
A |
G |
11: 106,153,687 (GRCm39) |
D382G |
probably benign |
Het |
| Ptprz1 |
C |
A |
6: 22,972,716 (GRCm39) |
Q209K |
possibly damaging |
Het |
| Rev1 |
A |
C |
1: 38,098,353 (GRCm39) |
L730R |
probably damaging |
Het |
| Rin3 |
G |
A |
12: 102,339,861 (GRCm39) |
V684I |
probably damaging |
Het |
| Secisbp2 |
G |
A |
13: 51,833,869 (GRCm39) |
V670I |
possibly damaging |
Het |
| Sema6d |
G |
A |
2: 124,497,134 (GRCm39) |
C136Y |
probably damaging |
Het |
| Sf3a2 |
T |
A |
10: 80,640,138 (GRCm39) |
H316Q |
unknown |
Het |
| Slc18b1 |
T |
C |
10: 23,692,198 (GRCm39) |
|
silent |
Het |
| Sp100 |
T |
C |
1: 85,590,285 (GRCm39) |
V93A |
possibly damaging |
Het |
| Spta1 |
C |
T |
1: 174,040,940 (GRCm39) |
L1247F |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,144,618 (GRCm39) |
N21I |
probably damaging |
Het |
| Tbck |
G |
T |
3: 132,392,587 (GRCm39) |
M9I |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,274,500 (GRCm39) |
Y376C |
probably damaging |
Het |
| Tmem199 |
T |
A |
11: 78,398,633 (GRCm39) |
|
probably benign |
Het |
| Ttf2 |
A |
G |
3: 100,857,648 (GRCm39) |
L759P |
probably damaging |
Het |
| Ubqlnl |
T |
A |
7: 103,799,206 (GRCm39) |
H97L |
probably damaging |
Het |
| Zfp800 |
T |
C |
6: 28,244,270 (GRCm39) |
I232V |
probably benign |
Het |
| Zfp831 |
A |
G |
2: 174,487,874 (GRCm39) |
T850A |
probably benign |
Het |
| Zpld2 |
T |
C |
4: 133,930,282 (GRCm39) |
T8A |
unknown |
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 |
|
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 |
|
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'- TGACAAGCGTCGTACCATTAC -3'
(R):5'- CAAAGAGCATACACACAGGTTG -3'
Sequencing Primer
(F):5'- AAGCGTCGTACCATTACCTTCAG -3'
(R):5'- TTCCTGGGTGACGGCTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation