Incidental Mutation 'R1857:Ror1'
| ID |
206209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ror1
|
| Ensembl Gene |
ENSMUSG00000035305 |
| Gene Name |
receptor tyrosine kinase-like orphan receptor 1 |
| Synonyms |
Ntrkr1, 2810404D04Rik |
| MMRRC Submission |
039881-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1857 (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 T
at 100298700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 691
(Q691L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039630]
|
| AlphaFold |
Q9Z139 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039630
AA Change: Q691L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: Q691L
| 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: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.2%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,766,789 (GRCm39) |
I57N |
probably damaging |
Het |
| Abca15 |
T |
C |
7: 119,960,592 (GRCm39) |
S685P |
probably damaging |
Het |
| Adpgk |
G |
T |
9: 59,222,248 (GRCm39) |
V392L |
probably benign |
Het |
| Akap14 |
C |
T |
X: 36,420,779 (GRCm39) |
A476T |
probably damaging |
Het |
| Amdhd1 |
A |
T |
10: 93,367,416 (GRCm39) |
I246N |
probably damaging |
Het |
| Amhr2 |
T |
A |
15: 102,355,212 (GRCm39) |
L165* |
probably null |
Het |
| Atr |
T |
A |
9: 95,747,150 (GRCm39) |
I144N |
probably damaging |
Het |
| Ccdc33 |
T |
C |
9: 57,939,991 (GRCm39) |
N750S |
possibly damaging |
Het |
| Cdh23 |
A |
G |
10: 60,159,076 (GRCm39) |
I2233T |
probably damaging |
Het |
| Cfap46 |
C |
A |
7: 139,233,324 (GRCm39) |
V774F |
probably damaging |
Het |
| Cfap69 |
G |
T |
5: 5,632,518 (GRCm39) |
T362K |
possibly damaging |
Het |
| Cnih3 |
A |
G |
1: 181,277,638 (GRCm39) |
H101R |
probably damaging |
Het |
| Crebrf |
T |
A |
17: 26,961,937 (GRCm39) |
Y345N |
probably benign |
Het |
| Cyb5r4 |
C |
T |
9: 86,923,332 (GRCm39) |
S185L |
probably benign |
Het |
| Cyp2j5 |
T |
C |
4: 96,547,723 (GRCm39) |
E173G |
possibly damaging |
Het |
| Cyp3a41b |
T |
A |
5: 145,503,660 (GRCm39) |
I296F |
probably benign |
Het |
| Dse |
T |
C |
10: 34,029,225 (GRCm39) |
T622A |
probably benign |
Het |
| Duxf4 |
A |
G |
10: 58,071,602 (GRCm39) |
V204A |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,629,059 (GRCm39) |
F4205L |
probably damaging |
Het |
| Eif3a |
A |
C |
19: 60,770,635 (GRCm39) |
L71V |
probably damaging |
Het |
| Eif3h |
T |
C |
15: 51,662,674 (GRCm39) |
Y124C |
probably damaging |
Het |
| Eif4g3 |
A |
T |
4: 137,903,187 (GRCm39) |
Q1169L |
possibly damaging |
Het |
| Endod1 |
T |
A |
9: 14,268,405 (GRCm39) |
H360L |
probably benign |
Het |
| Fbxo38 |
A |
G |
18: 62,648,489 (GRCm39) |
I683T |
probably damaging |
Het |
| Frem2 |
T |
A |
3: 53,562,294 (GRCm39) |
T738S |
probably benign |
Het |
| Gm1527 |
A |
T |
3: 28,957,539 (GRCm39) |
T148S |
probably damaging |
Het |
| Gm4894 |
T |
C |
9: 49,189,976 (GRCm39) |
S84P |
unknown |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Il1f10 |
A |
T |
2: 24,182,817 (GRCm39) |
D31V |
possibly damaging |
Het |
| Lrrc56 |
A |
G |
7: 140,787,421 (GRCm39) |
M353V |
probably benign |
Het |
| Meiob |
T |
C |
17: 25,042,544 (GRCm39) |
V124A |
probably damaging |
Het |
| Mmp11 |
A |
T |
10: 75,764,191 (GRCm39) |
D91E |
probably benign |
Het |
| Mpped2 |
T |
C |
2: 106,613,989 (GRCm39) |
Y108H |
probably damaging |
Het |
| Mroh9 |
A |
G |
1: 162,866,714 (GRCm39) |
V674A |
probably damaging |
Het |
| Mtor |
G |
T |
4: 148,565,336 (GRCm39) |
Q1015H |
probably damaging |
Het |
| Mylk3 |
G |
A |
8: 86,055,223 (GRCm39) |
T711I |
probably damaging |
Het |
| Ndufaf6 |
G |
T |
4: 11,053,474 (GRCm39) |
H277Q |
probably benign |
Het |
| Neurl4 |
G |
T |
11: 69,796,361 (GRCm39) |
G435V |
probably damaging |
Het |
| Nipal2 |
A |
G |
15: 34,678,779 (GRCm39) |
S21P |
possibly damaging |
Het |
| Nphp1 |
T |
A |
2: 127,612,296 (GRCm39) |
D217V |
probably benign |
Het |
| Nphp3 |
T |
C |
9: 103,898,493 (GRCm39) |
I432T |
possibly damaging |
Het |
| Oprd1 |
T |
G |
4: 131,840,992 (GRCm39) |
D322A |
probably damaging |
Het |
| Or10ag2 |
T |
C |
2: 87,248,992 (GRCm39) |
L198P |
probably damaging |
Het |
| Or2b28 |
A |
G |
13: 21,531,346 (GRCm39) |
M83V |
possibly damaging |
Het |
| Or56a3b |
T |
G |
7: 104,770,751 (GRCm39) |
L29R |
probably benign |
Het |
| Pcdh10 |
C |
A |
3: 45,334,372 (GRCm39) |
Q229K |
possibly damaging |
Het |
| Pdlim7 |
G |
A |
13: 55,653,858 (GRCm39) |
T253M |
probably damaging |
Het |
| Pfdn1 |
C |
A |
18: 36,584,153 (GRCm39) |
M60I |
probably benign |
Het |
| Pigc |
T |
G |
1: 161,798,446 (GRCm39) |
S143A |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,408 (GRCm39) |
D1294G |
possibly damaging |
Het |
| Ppp2r1a |
T |
C |
17: 21,181,951 (GRCm39) |
S490P |
possibly damaging |
Het |
| Ppp2r3d |
T |
A |
9: 101,090,092 (GRCm39) |
N77I |
probably damaging |
Het |
| Pramel17 |
T |
C |
4: 101,692,770 (GRCm39) |
Y410C |
probably damaging |
Het |
| Pramel29 |
C |
T |
4: 143,935,091 (GRCm39) |
V217I |
possibly damaging |
Het |
| Prl7a2 |
A |
T |
13: 27,843,163 (GRCm39) |
C213* |
probably null |
Het |
| Prpf8 |
T |
A |
11: 75,386,249 (GRCm39) |
|
probably null |
Het |
| Psmd7 |
A |
T |
8: 108,311,525 (GRCm39) |
N109K |
probably damaging |
Het |
| Ptprn |
T |
C |
1: 75,224,549 (GRCm39) |
K936E |
possibly damaging |
Het |
| Ro60 |
T |
C |
1: 143,646,488 (GRCm39) |
T86A |
probably benign |
Het |
| Sars2 |
A |
G |
7: 28,449,437 (GRCm39) |
M322V |
probably benign |
Het |
| Scfd2 |
C |
A |
5: 74,372,962 (GRCm39) |
E638* |
probably null |
Het |
| Scgb3a2 |
A |
G |
18: 43,899,900 (GRCm39) |
T63A |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,002,569 (GRCm39) |
S242P |
probably benign |
Het |
| Smarcd1 |
A |
G |
15: 99,607,295 (GRCm39) |
K382E |
probably damaging |
Het |
| Sox5 |
T |
A |
6: 143,906,541 (GRCm39) |
S305C |
probably damaging |
Het |
| Sp5 |
C |
A |
2: 70,307,213 (GRCm39) |
H299Q |
possibly damaging |
Het |
| Stard13 |
T |
C |
5: 151,018,903 (GRCm39) |
Y60C |
probably damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,336,752 (GRCm39) |
F383L |
probably damaging |
Het |
| Ttc23 |
T |
C |
7: 67,328,821 (GRCm39) |
|
probably null |
Het |
| Ugt2b34 |
T |
C |
5: 87,052,241 (GRCm39) |
T252A |
possibly damaging |
Het |
| Vangl2 |
A |
T |
1: 171,837,464 (GRCm39) |
L115Q |
probably damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,821,597 (GRCm39) |
I324T |
probably benign |
Het |
| Vwa5b1 |
A |
G |
4: 138,296,413 (GRCm39) |
F1205L |
probably damaging |
Het |
| Zfp951 |
G |
C |
5: 104,962,723 (GRCm39) |
T281R |
probably damaging |
Het |
| Zscan30 |
A |
G |
18: 24,104,524 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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'- TGGGCTTTCCAGAGAAATTTACTC -3'
(R):5'- GCTCGGGAACATGTAATTGGG -3'
Sequencing Primer
(F):5'- CTGCTGATTACTATAGGGTACAGAG -3'
(R):5'- TTACTCACAGGGCTGGCAC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation