Incidental Mutation 'R5028:Ror1'
| ID |
391499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ror1
|
| Ensembl Gene |
ENSMUSG00000035305 |
| Gene Name |
receptor tyrosine kinase-like orphan receptor 1 |
| Synonyms |
Ntrkr1, 2810404D04Rik |
| MMRRC Submission |
042619-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5028 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
99952988-100301962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100269133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 324
(T324A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039630]
|
| AlphaFold |
Q9Z139 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039630
AA Change: T324A
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: T324A
| 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 |
0.2044 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
97% (62/64) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,104,356 (GRCm39) |
S777C |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,187,458 (GRCm39) |
|
probably null |
Het |
| Arhgap17 |
T |
A |
7: 122,893,896 (GRCm39) |
H508L |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,803,709 (GRCm39) |
|
probably null |
Het |
| Atp12a |
T |
C |
14: 56,624,435 (GRCm39) |
F961S |
probably damaging |
Het |
| B4galnt4 |
C |
A |
7: 140,647,975 (GRCm39) |
P497Q |
probably benign |
Het |
| Camsap1 |
A |
G |
2: 25,834,568 (GRCm39) |
S364P |
probably damaging |
Het |
| Ccdc150 |
C |
A |
1: 54,302,636 (GRCm39) |
D85E |
probably benign |
Het |
| Cdc45 |
A |
G |
16: 18,613,930 (GRCm39) |
Y291H |
probably benign |
Het |
| Comp |
A |
C |
8: 70,829,290 (GRCm39) |
N289T |
probably damaging |
Het |
| Cops3 |
T |
A |
11: 59,708,856 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
G |
A |
10: 43,874,208 (GRCm39) |
H967Y |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 16,039,090 (GRCm39) |
F2423I |
probably damaging |
Het |
| Dact1 |
C |
A |
12: 71,365,347 (GRCm39) |
C709* |
probably null |
Het |
| Dcxr |
T |
G |
11: 120,617,273 (GRCm39) |
Q90P |
probably damaging |
Het |
| Ell |
A |
G |
8: 71,043,349 (GRCm39) |
Y494C |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,581,727 (GRCm39) |
E333G |
possibly damaging |
Het |
| Eml2 |
T |
C |
7: 18,913,372 (GRCm39) |
|
probably null |
Het |
| Fam186b |
T |
A |
15: 99,178,682 (GRCm39) |
M215L |
probably damaging |
Het |
| Gm17078 |
T |
A |
14: 51,848,699 (GRCm39) |
R13W |
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Hspa14 |
A |
G |
2: 3,499,206 (GRCm39) |
F196S |
possibly damaging |
Het |
| Ier5 |
A |
G |
1: 154,974,849 (GRCm39) |
S110P |
possibly damaging |
Het |
| Kif1a |
T |
A |
1: 92,982,049 (GRCm39) |
I793F |
possibly damaging |
Het |
| Lrrc43 |
T |
C |
5: 123,646,176 (GRCm39) |
I643T |
probably damaging |
Het |
| Map3k19 |
A |
T |
1: 127,750,969 (GRCm39) |
L794Q |
probably benign |
Het |
| Meox2 |
A |
T |
12: 37,158,935 (GRCm39) |
M36L |
probably benign |
Het |
| Mgat5b |
T |
A |
11: 116,875,855 (GRCm39) |
L693Q |
probably damaging |
Het |
| Mup4 |
T |
A |
4: 59,958,124 (GRCm39) |
E148V |
possibly damaging |
Het |
| Napb |
T |
C |
2: 148,545,057 (GRCm39) |
N162S |
possibly damaging |
Het |
| Nlgn2 |
T |
C |
11: 69,718,563 (GRCm39) |
D339G |
probably benign |
Het |
| Nucks1 |
C |
T |
1: 131,855,840 (GRCm39) |
R90C |
possibly damaging |
Het |
| Or11g7 |
T |
C |
14: 50,691,196 (GRCm39) |
V229A |
probably damaging |
Het |
| Or5an9 |
T |
A |
19: 12,187,518 (GRCm39) |
V196E |
possibly damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,739,723 (GRCm39) |
D24V |
probably damaging |
Het |
| Prpf4b |
C |
T |
13: 35,083,958 (GRCm39) |
P909L |
probably damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,132,485 (GRCm39) |
K116* |
probably null |
Het |
| Slc24a4 |
G |
A |
12: 102,230,629 (GRCm39) |
G505R |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,956,702 (GRCm39) |
I112T |
possibly damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,297,314 (GRCm39) |
S69G |
probably damaging |
Het |
| Smc2 |
A |
T |
4: 52,458,447 (GRCm39) |
E429D |
probably damaging |
Het |
| Sry |
T |
C |
Y: 2,663,312 (GRCm39) |
D116G |
probably damaging |
Het |
| Tcea3 |
T |
A |
4: 135,985,246 (GRCm39) |
V154E |
possibly damaging |
Het |
| Tigd2 |
G |
A |
6: 59,188,205 (GRCm39) |
W357* |
probably null |
Het |
| Tmem177 |
T |
A |
1: 119,838,419 (GRCm39) |
T87S |
probably benign |
Het |
| Treh |
A |
T |
9: 44,594,186 (GRCm39) |
E144V |
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,764,124 (GRCm39) |
D243E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,608,394 (GRCm39) |
D17843G |
probably damaging |
Het |
| Vars2 |
A |
C |
17: 35,970,365 (GRCm39) |
|
probably null |
Het |
| Vmn1r201 |
G |
A |
13: 22,659,530 (GRCm39) |
W248* |
probably null |
Het |
| Yap1 |
T |
C |
9: 8,001,690 (GRCm39) |
T99A |
probably benign |
Het |
| Zbtb8b |
C |
A |
4: 129,326,793 (GRCm39) |
C91F |
probably damaging |
Het |
| Zfp882 |
A |
G |
8: 72,668,498 (GRCm39) |
T442A |
possibly damaging |
Het |
| Zxdc |
G |
T |
6: 90,359,320 (GRCm39) |
G651C |
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 |
|
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 |
|
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'- CTGCCTGGAGAAAGACCTTC -3'
(R):5'- AGGTGACTGAATACATTAGAGCC -3'
Sequencing Primer
(F):5'- CCTTCCAGGTGCTTAGCC -3'
(R):5'- TACCACATGCTGGGATGTCAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation