Incidental Mutation 'R1437:Ror1'
| ID |
161280 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ror1
|
| Ensembl Gene |
ENSMUSG00000035305 |
| Gene Name |
receptor tyrosine kinase-like orphan receptor 1 |
| Synonyms |
Ntrkr1, 2810404D04Rik |
| MMRRC Submission |
039492-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1437 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
99952988-100301962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100269306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 381
(F381L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039630]
|
| AlphaFold |
Q9Z139 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039630
AA Change: F381L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: F381L
| 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: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 87.3%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,871,436 (GRCm39) |
V330E |
possibly damaging |
Het |
| Abcb5 |
A |
G |
12: 118,838,497 (GRCm39) |
S1022P |
probably damaging |
Het |
| Abcc8 |
A |
G |
7: 45,829,237 (GRCm39) |
I46T |
probably damaging |
Het |
| Add3 |
A |
G |
19: 53,222,109 (GRCm39) |
R275G |
probably damaging |
Het |
| Akap1 |
C |
A |
11: 88,735,577 (GRCm39) |
G362* |
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,763,026 (GRCm39) |
T761A |
unknown |
Het |
| Asap1 |
A |
T |
15: 63,991,956 (GRCm39) |
L751Q |
probably damaging |
Het |
| Atg2a |
C |
A |
19: 6,300,646 (GRCm39) |
P741H |
probably damaging |
Het |
| Atxn10 |
T |
C |
15: 85,243,675 (GRCm39) |
I46T |
possibly damaging |
Het |
| BC049715 |
C |
A |
6: 136,817,090 (GRCm39) |
A110E |
probably damaging |
Het |
| Bltp1 |
C |
A |
3: 36,996,578 (GRCm39) |
H1097N |
possibly damaging |
Het |
| Btbd7 |
T |
A |
12: 102,754,349 (GRCm39) |
T806S |
possibly damaging |
Het |
| Cdk4 |
C |
A |
10: 126,900,558 (GRCm39) |
P108H |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,407,963 (GRCm39) |
T2391A |
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,729,098 (GRCm39) |
A1281E |
probably damaging |
Het |
| Cpa5 |
A |
T |
6: 30,624,654 (GRCm39) |
I165F |
probably damaging |
Het |
| Ctdp1 |
G |
T |
18: 80,493,428 (GRCm39) |
Q356K |
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,434,369 (GRCm39) |
M130T |
unknown |
Het |
| Epha5 |
T |
G |
5: 84,381,555 (GRCm39) |
D432A |
probably damaging |
Het |
| Esr1 |
ACGCCGCCGCCGCCGCCGCCGCCGCCGCC |
ACGCCGCCGCCGCCGCCGCCGCCGCC |
10: 4,662,571 (GRCm39) |
|
probably benign |
Het |
| Fads2 |
A |
T |
19: 10,069,193 (GRCm39) |
L77Q |
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,186,731 (GRCm39) |
H1723Q |
possibly damaging |
Het |
| Fbxo42 |
C |
T |
4: 140,895,165 (GRCm39) |
H43Y |
probably benign |
Het |
| Fry |
A |
G |
5: 150,233,890 (GRCm39) |
T121A |
possibly damaging |
Het |
| Gpr156 |
T |
G |
16: 37,808,904 (GRCm39) |
S209A |
probably damaging |
Het |
| Hey2 |
T |
C |
10: 30,709,845 (GRCm39) |
T303A |
probably benign |
Het |
| Hivep1 |
T |
A |
13: 42,310,616 (GRCm39) |
M952K |
probably benign |
Het |
| Hydin |
C |
T |
8: 111,308,617 (GRCm39) |
Q3968* |
probably null |
Het |
| Jup |
T |
C |
11: 100,274,402 (GRCm39) |
E96G |
probably benign |
Het |
| Kcnn1 |
A |
G |
8: 71,297,195 (GRCm39) |
I504T |
probably benign |
Het |
| Klk1b9 |
T |
C |
7: 43,629,114 (GRCm39) |
V174A |
probably damaging |
Het |
| Lama3 |
G |
C |
18: 12,682,284 (GRCm39) |
M1083I |
possibly damaging |
Het |
| Lcmt2 |
A |
G |
2: 120,969,377 (GRCm39) |
S569P |
probably benign |
Het |
| Lrfn2 |
T |
C |
17: 49,378,253 (GRCm39) |
S445P |
probably damaging |
Het |
| Lrp3 |
C |
A |
7: 34,912,595 (GRCm39) |
G31W |
probably damaging |
Het |
| Lrrc8b |
T |
C |
5: 105,629,568 (GRCm39) |
L638P |
probably damaging |
Het |
| Mief2 |
C |
T |
11: 60,621,769 (GRCm39) |
T113M |
probably benign |
Het |
| Mrps2 |
T |
C |
2: 28,358,899 (GRCm39) |
F76S |
probably damaging |
Het |
| Naca |
A |
G |
10: 127,878,048 (GRCm39) |
|
probably benign |
Het |
| Ndst4 |
C |
A |
3: 125,355,099 (GRCm39) |
R336S |
probably damaging |
Het |
| Nr1i3 |
CACTCAACACTAC |
CAC |
1: 171,044,710 (GRCm39) |
|
probably null |
Het |
| Nr5a1 |
T |
A |
2: 38,600,685 (GRCm39) |
T29S |
probably benign |
Het |
| Or5ak23 |
T |
C |
2: 85,245,218 (GRCm39) |
I2V |
probably benign |
Het |
| Or5as1 |
C |
T |
2: 86,980,115 (GRCm39) |
V297M |
possibly damaging |
Het |
| Pald1 |
A |
G |
10: 61,177,064 (GRCm39) |
F662S |
possibly damaging |
Het |
| Pdcd4 |
G |
T |
19: 53,897,674 (GRCm39) |
A59S |
probably damaging |
Het |
| Pde4a |
T |
C |
9: 21,103,888 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,814,106 (GRCm39) |
S4159T |
probably damaging |
Het |
| Plaat1 |
C |
A |
16: 29,046,922 (GRCm39) |
A147E |
possibly damaging |
Het |
| Plch1 |
C |
A |
3: 63,604,954 (GRCm39) |
R1641L |
probably benign |
Het |
| Plec |
G |
T |
15: 76,073,481 (GRCm39) |
P308Q |
probably damaging |
Het |
| Pnkp |
A |
G |
7: 44,509,826 (GRCm39) |
S262G |
possibly damaging |
Het |
| Pou2f1 |
A |
G |
1: 165,719,399 (GRCm39) |
V504A |
probably damaging |
Het |
| Prepl |
G |
A |
17: 85,395,785 (GRCm39) |
R66W |
probably damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,167,396 (GRCm39) |
K226E |
probably damaging |
Het |
| Sbsn |
C |
T |
7: 30,452,478 (GRCm39) |
Q498* |
probably null |
Het |
| Scgb2b19 |
T |
C |
7: 32,977,980 (GRCm39) |
I106V |
probably benign |
Het |
| Sf3a2 |
G |
A |
10: 80,640,040 (GRCm39) |
|
probably benign |
Het |
| Sis |
T |
C |
3: 72,841,475 (GRCm39) |
H780R |
probably damaging |
Het |
| Slc28a3 |
G |
T |
13: 58,706,389 (GRCm39) |
C617* |
probably null |
Het |
| Slc44a1 |
T |
A |
4: 53,561,006 (GRCm39) |
V574D |
probably damaging |
Het |
| Slc8a3 |
T |
A |
12: 81,362,760 (GRCm39) |
T20S |
probably damaging |
Het |
| Stt3b |
T |
A |
9: 115,083,995 (GRCm39) |
I394F |
probably damaging |
Het |
| Ubap1l |
T |
A |
9: 65,279,337 (GRCm39) |
V212D |
possibly damaging |
Het |
| Ugt2b35 |
T |
C |
5: 87,148,890 (GRCm39) |
V47A |
probably benign |
Het |
| Vmn2r114 |
A |
G |
17: 23,510,185 (GRCm39) |
F765S |
probably damaging |
Het |
| Vps50 |
C |
T |
6: 3,517,852 (GRCm39) |
Q97* |
probably null |
Het |
| Vsig10 |
A |
G |
5: 117,489,635 (GRCm39) |
Q467R |
probably damaging |
Het |
| Wdsub1 |
T |
G |
2: 59,708,477 (GRCm39) |
Y11S |
probably damaging |
Het |
| Zbtb11 |
T |
G |
16: 55,811,983 (GRCm39) |
|
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 |
|
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 |
|
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'- CTGTTGCTAGGAAGGACAAATCCCC -3'
(R):5'- TGTCAGGAACTGTCAGACAGCTAGG -3'
Sequencing Primer
(F):5'- GGAAGGACAAATCCCCTTCTG -3'
(R):5'- TACGTGGGGACCTGGATATT -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation