Incidental Mutation 'R7054:Ror1'
| ID |
547762 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ror1
|
| Ensembl Gene |
ENSMUSG00000035305 |
| Gene Name |
receptor tyrosine kinase-like orphan receptor 1 |
| Synonyms |
Ntrkr1, 2810404D04Rik |
| MMRRC Submission |
045151-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7054 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
99952988-100301962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100299436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 936
(E936D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039630]
|
| AlphaFold |
Q9Z139 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039630
AA Change: E936D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: E936D
| 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 |
0.0570 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
94% (67/71) |
| 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 |
|---|
| 4930553M12Rik |
T |
A |
4: 88,786,486 (GRCm39) |
H44L |
unknown |
Het |
| Abcc3 |
T |
C |
11: 94,256,051 (GRCm39) |
K478R |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,736,952 (GRCm39) |
|
probably benign |
Het |
| Apod |
A |
G |
16: 31,129,950 (GRCm39) |
V2A |
probably benign |
Het |
| Armh4 |
C |
A |
14: 50,011,155 (GRCm39) |
S184I |
probably damaging |
Het |
| Aspg |
T |
A |
12: 112,092,824 (GRCm39) |
D530E |
probably damaging |
Het |
| Atxn7 |
A |
T |
14: 14,100,878 (GRCm38) |
T855S |
probably benign |
Het |
| Blmh |
G |
C |
11: 76,859,451 (GRCm39) |
G351R |
probably damaging |
Het |
| Cc2d2a |
C |
T |
5: 43,857,321 (GRCm39) |
R454* |
probably null |
Het |
| Cenpp |
T |
C |
13: 49,619,233 (GRCm39) |
E188G |
probably damaging |
Het |
| Cimip3 |
A |
G |
17: 47,748,114 (GRCm39) |
|
probably null |
Het |
| Creg2 |
T |
C |
1: 39,662,376 (GRCm39) |
E252G |
probably benign |
Het |
| Dot1l |
A |
G |
10: 80,622,857 (GRCm39) |
Y636C |
probably damaging |
Het |
| Dpy30 |
A |
G |
17: 74,614,835 (GRCm39) |
I36T |
probably benign |
Het |
| Eed |
A |
G |
7: 89,613,935 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
A |
G |
2: 113,195,353 (GRCm39) |
D351G |
unknown |
Het |
| Fra10ac1 |
C |
T |
19: 38,212,567 (GRCm39) |
|
probably benign |
Het |
| Gdpd4 |
T |
A |
7: 97,623,136 (GRCm39) |
I249N |
probably damaging |
Het |
| Glb1l2 |
A |
T |
9: 26,676,423 (GRCm39) |
V600D |
probably null |
Het |
| Gm13889 |
A |
T |
2: 93,787,459 (GRCm39) |
|
probably benign |
Het |
| Gm17654 |
T |
A |
14: 43,813,327 (GRCm39) |
N188Y |
|
Het |
| Gm3327 |
T |
C |
14: 44,363,732 (GRCm39) |
F112S |
|
Het |
| H2-Ab1 |
T |
C |
17: 34,482,316 (GRCm39) |
S11P |
probably benign |
Het |
| Hcn4 |
T |
C |
9: 58,763,000 (GRCm39) |
S522P |
unknown |
Het |
| Hfm1 |
T |
C |
5: 107,043,909 (GRCm39) |
T576A |
probably benign |
Het |
| Hoxa1 |
A |
G |
6: 52,135,180 (GRCm39) |
S8P |
probably damaging |
Het |
| Hoxd13 |
A |
G |
2: 74,499,369 (GRCm39) |
Y239C |
probably damaging |
Het |
| Ifih1 |
T |
A |
2: 62,440,859 (GRCm39) |
I485L |
probably benign |
Het |
| Ift52 |
G |
A |
2: 162,871,716 (GRCm39) |
V183M |
probably damaging |
Het |
| Ikbkb |
A |
G |
8: 23,161,658 (GRCm39) |
V410A |
possibly damaging |
Het |
| Il22ra1 |
G |
A |
4: 135,478,473 (GRCm39) |
V515I |
probably benign |
Het |
| Klk1b3 |
A |
T |
7: 43,850,863 (GRCm39) |
I132F |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,305,448 (GRCm39) |
T206A |
possibly damaging |
Het |
| Llph |
A |
T |
10: 120,067,240 (GRCm39) |
|
probably benign |
Het |
| Lrrc26 |
T |
A |
2: 25,180,087 (GRCm39) |
D29E |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,007,191 (GRCm39) |
|
probably null |
Het |
| Mageb3 |
A |
T |
2: 121,784,973 (GRCm39) |
V243E |
probably damaging |
Het |
| Mfhas1 |
T |
C |
8: 36,055,792 (GRCm39) |
V89A |
probably benign |
Het |
| Mycbp2 |
G |
A |
14: 103,393,534 (GRCm39) |
T2899I |
possibly damaging |
Het |
| Nckap5 |
A |
T |
1: 126,186,449 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
C |
11: 62,275,619 (GRCm39) |
D530G |
probably null |
Het |
| Or10ag55-ps1 |
T |
A |
2: 87,114,775 (GRCm39) |
M47K |
probably benign |
Het |
| Or56a3b |
C |
T |
7: 104,771,170 (GRCm39) |
R169* |
probably null |
Het |
| Pax4 |
A |
G |
6: 28,446,322 (GRCm39) |
I57T |
probably damaging |
Het |
| Peg12 |
T |
C |
7: 62,113,711 (GRCm39) |
I129V |
possibly damaging |
Het |
| Pex6 |
G |
A |
17: 47,031,447 (GRCm39) |
A416T |
probably benign |
Het |
| Pgghg |
G |
A |
7: 140,524,631 (GRCm39) |
R326H |
probably benign |
Het |
| Pgk2 |
T |
A |
17: 40,519,366 (GRCm39) |
M21L |
probably benign |
Het |
| Polh |
A |
T |
17: 46,509,642 (GRCm39) |
W64R |
probably benign |
Het |
| Rassf7 |
T |
A |
7: 140,797,556 (GRCm39) |
H256Q |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,265,258 (GRCm39) |
M1184T |
probably benign |
Het |
| Skic3 |
G |
A |
13: 76,283,079 (GRCm39) |
A769T |
probably damaging |
Het |
| Slco1b2 |
A |
T |
6: 141,617,974 (GRCm39) |
T440S |
probably damaging |
Het |
| Specc1 |
T |
A |
11: 62,008,604 (GRCm39) |
V40E |
probably damaging |
Het |
| Tarbp1 |
T |
A |
8: 127,201,234 (GRCm39) |
S191C |
possibly damaging |
Het |
| Timm22 |
A |
G |
11: 76,298,071 (GRCm39) |
E14G |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 44,022,318 (GRCm39) |
D905E |
probably damaging |
Het |
| Trav7-5 |
T |
C |
14: 53,768,756 (GRCm39) |
L108P |
probably damaging |
Het |
| Ttc9b |
A |
G |
7: 27,353,667 (GRCm39) |
T106A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,545,012 (GRCm39) |
S32697G |
probably damaging |
Het |
| Usp17la |
T |
G |
7: 104,510,514 (GRCm39) |
L373R |
probably benign |
Het |
| Vmn1r113 |
A |
G |
7: 20,521,427 (GRCm39) |
N73S |
probably benign |
Het |
| Vmn1r42 |
T |
C |
6: 89,822,051 (GRCm39) |
T173A |
possibly damaging |
Het |
| Vmn2r106 |
A |
G |
17: 20,499,182 (GRCm39) |
V243A |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,800,569 (GRCm39) |
D591V |
probably damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,559,227 (GRCm39) |
S379P |
probably benign |
Het |
| Zfp870 |
T |
C |
17: 33,102,456 (GRCm39) |
Y292C |
probably damaging |
Het |
| Zfp977 |
A |
T |
7: 42,229,786 (GRCm39) |
N246K |
possibly damaging |
Het |
| Zp1 |
G |
A |
19: 10,896,104 (GRCm39) |
T207M |
probably 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 |
|
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 |
|
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'- GCCCTCATCAGGATCCAATC -3'
(R):5'- ATGGAGTGTAAATCCCACAATGCG -3'
Sequencing Primer
(F):5'- TCAGGAAGCAAACGTTCCTTTGC -3'
(R):5'- GTAAATCCCACAATGCGTCCTATTTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation