Incidental Mutation 'R3861:Ror1'
| ID |
276334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ror1
|
| Ensembl Gene |
ENSMUSG00000035305 |
| Gene Name |
receptor tyrosine kinase-like orphan receptor 1 |
| Synonyms |
Ntrkr1, 2810404D04Rik |
| MMRRC Submission |
040788-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3861 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
99952988-100301962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100265120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 198
(I198T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039630]
|
| AlphaFold |
Q9Z139 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039630
AA Change: I198T
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: I198T
| 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 |
0.2400 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (55/55) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
G |
A |
12: 18,583,411 (GRCm39) |
S157N |
probably benign |
Het |
| A830018L16Rik |
T |
C |
1: 11,658,778 (GRCm39) |
|
probably benign |
Het |
| Akip1 |
C |
T |
7: 109,306,613 (GRCm39) |
|
probably benign |
Het |
| Anxa5 |
T |
C |
3: 36,504,807 (GRCm39) |
T252A |
probably benign |
Het |
| Arhgef10l |
A |
G |
4: 140,242,798 (GRCm39) |
F1072L |
possibly damaging |
Het |
| Armc1 |
C |
T |
3: 19,189,196 (GRCm39) |
R186Q |
probably damaging |
Het |
| Atxn2l |
A |
T |
7: 126,101,123 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
A |
G |
6: 23,355,860 (GRCm39) |
I849T |
probably damaging |
Het |
| Ccdc28a |
T |
A |
10: 18,100,743 (GRCm39) |
Q28L |
probably damaging |
Het |
| Cdh4 |
T |
A |
2: 179,515,890 (GRCm39) |
V356D |
probably damaging |
Het |
| Chd8 |
T |
A |
14: 52,474,578 (GRCm39) |
Q151L |
probably benign |
Het |
| Chgb |
T |
A |
2: 132,635,064 (GRCm39) |
H335Q |
probably damaging |
Het |
| Col19a1 |
G |
A |
1: 24,365,098 (GRCm39) |
P506S |
probably damaging |
Het |
| Col5a2 |
T |
C |
1: 45,419,397 (GRCm39) |
T1228A |
probably damaging |
Het |
| Cpxm2 |
A |
G |
7: 131,656,648 (GRCm39) |
V538A |
probably benign |
Het |
| Cramp1 |
A |
T |
17: 25,216,588 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,423,832 (GRCm39) |
R831G |
probably benign |
Het |
| Cyp4f17 |
A |
G |
17: 32,747,078 (GRCm39) |
D436G |
probably damaging |
Het |
| Dcaf6 |
A |
T |
1: 165,256,838 (GRCm39) |
N48K |
probably damaging |
Het |
| Ddx50 |
C |
A |
10: 62,478,725 (GRCm39) |
V154L |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,943,820 (GRCm39) |
|
probably benign |
Het |
| Dnm3 |
T |
A |
1: 162,138,974 (GRCm39) |
I395L |
possibly damaging |
Het |
| Elp2 |
C |
T |
18: 24,739,977 (GRCm39) |
R68C |
probably benign |
Het |
| Frg1 |
A |
T |
8: 41,860,820 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
G |
T |
2: 82,815,120 (GRCm39) |
D3618Y |
probably damaging |
Het |
| Gabra2 |
T |
C |
5: 71,130,886 (GRCm39) |
D314G |
probably damaging |
Het |
| Gramd1a |
A |
C |
7: 30,835,365 (GRCm39) |
D407E |
possibly damaging |
Het |
| Grm5 |
T |
A |
7: 87,779,202 (GRCm39) |
S881T |
possibly damaging |
Het |
| Ikbkb |
T |
A |
8: 23,168,852 (GRCm39) |
I216F |
possibly damaging |
Het |
| Kif3a |
T |
C |
11: 53,488,805 (GRCm39) |
V634A |
probably benign |
Het |
| Ltbp1 |
A |
T |
17: 75,666,333 (GRCm39) |
Y1342F |
possibly damaging |
Het |
| Mia2 |
G |
T |
12: 59,155,807 (GRCm39) |
V508L |
probably benign |
Het |
| Mtus2 |
C |
T |
5: 148,250,223 (GRCm39) |
T155M |
probably damaging |
Het |
| Napepld |
A |
T |
5: 21,888,287 (GRCm39) |
V54E |
probably benign |
Het |
| Nlrc4 |
T |
C |
17: 74,752,616 (GRCm39) |
E589G |
probably benign |
Het |
| Nphp3 |
G |
T |
9: 103,916,525 (GRCm39) |
|
probably benign |
Het |
| Nr2f1 |
T |
A |
13: 78,343,794 (GRCm39) |
R10* |
probably null |
Het |
| Nsfl1c |
C |
A |
2: 151,352,824 (GRCm39) |
|
probably null |
Het |
| Or14a258 |
A |
G |
7: 86,035,331 (GRCm39) |
V179A |
possibly damaging |
Het |
| Pcdhgc3 |
A |
G |
18: 37,941,581 (GRCm39) |
T661A |
probably damaging |
Het |
| Pdzrn3 |
A |
G |
6: 101,149,332 (GRCm39) |
V332A |
possibly damaging |
Het |
| Pip4p2 |
A |
G |
4: 14,902,506 (GRCm39) |
N169S |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,271,151 (GRCm39) |
C3134Y |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,036,894 (GRCm39) |
V1131A |
probably damaging |
Het |
| Rccd1 |
T |
C |
7: 79,970,116 (GRCm39) |
E167G |
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Scly |
C |
T |
1: 91,230,573 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
T |
C |
11: 106,216,950 (GRCm39) |
|
probably benign |
Het |
| Sh3rf2 |
T |
C |
18: 42,286,384 (GRCm39) |
S594P |
probably damaging |
Het |
| Slc19a1 |
G |
A |
10: 76,877,809 (GRCm39) |
V115M |
possibly damaging |
Het |
| Slc26a6 |
A |
T |
9: 108,731,395 (GRCm39) |
|
probably benign |
Het |
| Smg7 |
C |
T |
1: 152,728,349 (GRCm39) |
R439K |
probably null |
Het |
| Spata31e3 |
T |
C |
13: 50,400,887 (GRCm39) |
K480E |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,013,253 (GRCm39) |
R2815G |
probably damaging |
Het |
| Trim75 |
G |
A |
8: 65,435,479 (GRCm39) |
R324C |
probably damaging |
Het |
| Ucp3 |
T |
C |
7: 100,129,458 (GRCm39) |
S98P |
probably benign |
Het |
| Zscan29 |
G |
C |
2: 120,991,212 (GRCm39) |
R859G |
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 |
|
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 |
|
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'- TATATGGTGCCCAACTGCGC -3'
(R):5'- GTAAATTCCAGAGCACAGAGATCAC -3'
Sequencing Primer
(F):5'- GTGACCATTTAGAGCATTGCAAAGC -3'
(R):5'- GAGCACAGAGATCACATCTTATGC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation