Incidental Mutation 'R5294:Ror1'
| ID |
405279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ror1
|
| Ensembl Gene |
ENSMUSG00000035305 |
| Gene Name |
receptor tyrosine kinase-like orphan receptor 1 |
| Synonyms |
Ntrkr1, 2810404D04Rik |
| MMRRC Submission |
042877-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5294 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
99952988-100301962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100283135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 400
(N400I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039630]
|
| AlphaFold |
Q9Z139 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039630
AA Change: N400I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: N400I
| 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 |
0.1016 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (70/72) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579C12Rik |
T |
C |
9: 89,034,056 (GRCm39) |
|
noncoding transcript |
Het |
| Acaca |
A |
G |
11: 84,282,345 (GRCm39) |
E2154G |
probably benign |
Het |
| Acacb |
T |
C |
5: 114,380,013 (GRCm39) |
F2056L |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,959,023 (GRCm39) |
|
probably benign |
Het |
| Amn1 |
T |
A |
6: 149,086,622 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
C |
A |
4: 133,418,366 (GRCm39) |
|
probably benign |
Het |
| Aste1 |
T |
A |
9: 105,279,904 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,649,496 (GRCm39) |
V495D |
possibly damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,687,473 (GRCm39) |
H688L |
probably damaging |
Het |
| B3gnt8 |
T |
C |
7: 25,328,191 (GRCm39) |
L207P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,808,946 (GRCm39) |
H101R |
probably benign |
Het |
| Bicc1 |
G |
A |
10: 70,783,730 (GRCm39) |
T387M |
possibly damaging |
Het |
| Champ1 |
A |
C |
8: 13,928,981 (GRCm39) |
K380Q |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,438,005 (GRCm39) |
E523G |
probably benign |
Het |
| Cops6 |
G |
C |
5: 138,159,378 (GRCm39) |
|
probably benign |
Het |
| Cp |
G |
C |
3: 20,020,480 (GRCm39) |
V158L |
probably benign |
Het |
| Cyfip1 |
T |
A |
7: 55,523,231 (GRCm39) |
M52K |
possibly damaging |
Het |
| Dars1 |
A |
T |
1: 128,292,039 (GRCm39) |
F480I |
probably benign |
Het |
| Diaph1 |
C |
A |
18: 38,030,603 (GRCm39) |
E284* |
probably null |
Het |
| Diaph1 |
T |
C |
18: 38,030,633 (GRCm39) |
M274V |
unknown |
Het |
| Dock8 |
G |
A |
19: 25,038,517 (GRCm39) |
V68M |
probably benign |
Het |
| Elavl4 |
A |
G |
4: 110,068,627 (GRCm39) |
F247L |
possibly damaging |
Het |
| Emc10 |
C |
T |
7: 44,145,863 (GRCm39) |
|
probably benign |
Het |
| Fbxw16 |
T |
C |
9: 109,265,712 (GRCm39) |
D369G |
probably benign |
Het |
| Fgr |
A |
T |
4: 132,724,811 (GRCm39) |
D304V |
probably benign |
Het |
| Filip1l |
G |
A |
16: 57,390,399 (GRCm39) |
S91N |
possibly damaging |
Het |
| Haus8 |
A |
G |
8: 71,708,354 (GRCm39) |
S103P |
unknown |
Het |
| Hscb |
A |
G |
5: 110,982,658 (GRCm39) |
L143P |
probably damaging |
Het |
| Hsd11b2 |
A |
T |
8: 106,249,929 (GRCm39) |
M347L |
probably benign |
Het |
| Jrk |
C |
A |
15: 74,579,185 (GRCm39) |
E33D |
possibly damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,098,813 (GRCm39) |
Y123* |
probably null |
Het |
| Lrrc37 |
A |
G |
11: 103,507,057 (GRCm39) |
|
probably benign |
Het |
| Mis18bp1 |
A |
C |
12: 65,203,817 (GRCm39) |
M59R |
probably damaging |
Het |
| Mrps27 |
T |
C |
13: 99,546,381 (GRCm39) |
V260A |
probably damaging |
Het |
| Ncapg2 |
G |
T |
12: 116,391,414 (GRCm39) |
V488L |
possibly damaging |
Het |
| Nepn |
A |
T |
10: 52,276,896 (GRCm39) |
N211Y |
probably benign |
Het |
| Ntrk3 |
A |
T |
7: 78,167,254 (GRCm39) |
|
probably null |
Het |
| Or10x4 |
A |
T |
1: 174,218,791 (GRCm39) |
Y52F |
probably benign |
Het |
| Or11h23 |
A |
G |
14: 50,947,900 (GRCm39) |
T38A |
possibly damaging |
Het |
| Or11h23 |
A |
G |
14: 50,948,236 (GRCm39) |
I150V |
probably benign |
Het |
| Or52w1 |
C |
T |
7: 105,017,620 (GRCm39) |
T20I |
probably benign |
Het |
| Otud4 |
A |
T |
8: 80,399,521 (GRCm39) |
Q744L |
possibly damaging |
Het |
| P2ry14 |
A |
T |
3: 59,022,989 (GRCm39) |
I166N |
possibly damaging |
Het |
| Pak2 |
T |
A |
16: 31,840,648 (GRCm39) |
N478Y |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,616,400 (GRCm39) |
D202G |
probably benign |
Het |
| Pcdh7 |
C |
A |
5: 57,885,453 (GRCm39) |
|
probably null |
Het |
| Peg3 |
C |
A |
7: 6,720,848 (GRCm39) |
S19I |
possibly damaging |
Het |
| Prim2 |
G |
T |
1: 33,707,974 (GRCm39) |
T40K |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,314,490 (GRCm39) |
F1737L |
probably benign |
Het |
| Rex2 |
A |
C |
4: 147,142,442 (GRCm39) |
N310T |
probably benign |
Het |
| Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
| Rnf39 |
C |
T |
17: 37,258,092 (GRCm39) |
A86V |
probably damaging |
Het |
| Slc38a8 |
C |
T |
8: 120,221,028 (GRCm39) |
G177D |
probably damaging |
Het |
| Slc43a3 |
T |
C |
2: 84,786,654 (GRCm39) |
V445A |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,768,936 (GRCm39) |
N23S |
possibly damaging |
Het |
| Taf5l |
A |
G |
8: 124,734,957 (GRCm39) |
F74L |
probably benign |
Het |
| Trappc11 |
G |
C |
8: 47,983,766 (GRCm39) |
A42G |
possibly damaging |
Het |
| Trim30d |
T |
C |
7: 104,121,695 (GRCm39) |
K350R |
probably damaging |
Het |
| Trnt1 |
T |
C |
6: 106,750,375 (GRCm39) |
F93S |
probably damaging |
Het |
| Ube2c |
T |
C |
2: 164,619,110 (GRCm39) |
V161A |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,219,554 (GRCm39) |
E555G |
possibly damaging |
Het |
| Vmn2r55 |
T |
G |
7: 12,385,791 (GRCm39) |
S730R |
probably damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,692,570 (GRCm39) |
N124K |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,290,016 (GRCm39) |
C517* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,619,031 (GRCm39) |
I2845N |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Xpo5 |
T |
C |
17: 46,547,848 (GRCm39) |
V896A |
probably benign |
Het |
| Zfp2 |
T |
C |
11: 50,792,068 (GRCm39) |
|
probably benign |
Het |
| Zgrf1 |
G |
A |
3: 127,394,629 (GRCm39) |
M1328I |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,836,774 (GRCm39) |
D686G |
possibly 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 |
|
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 |
|
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'- CCTTCACAATGTCCAGCTGTG -3'
(R):5'- GCATTGAGCATGGACATCTCC -3'
Sequencing Primer
(F):5'- TGTCCAGCTGTGATTTTCAAAC -3'
(R):5'- CACATTCTGTCCTCTGACGGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation