Incidental Mutation 'R0417:Ror1'
| ID |
40383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ror1
|
| Ensembl Gene |
ENSMUSG00000035305 |
| Gene Name |
receptor tyrosine kinase-like orphan receptor 1 |
| Synonyms |
Ntrkr1, 2810404D04Rik |
| MMRRC Submission |
038619-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0417 (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 100269197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 345
(H345L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039630]
|
| AlphaFold |
Q9Z139 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039630
AA Change: H345L
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: H345L
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| 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 |
|---|
| 1700030K09Rik |
A |
G |
8: 73,199,244 (GRCm39) |
K217R |
probably damaging |
Het |
| 1810024B03Rik |
A |
G |
2: 127,028,864 (GRCm39) |
Y112H |
probably damaging |
Het |
| Acot2 |
T |
C |
12: 84,037,387 (GRCm39) |
Y234H |
probably benign |
Het |
| Alox12e |
C |
T |
11: 70,212,691 (GRCm39) |
V53I |
probably benign |
Het |
| Ankrd50 |
T |
C |
3: 38,510,510 (GRCm39) |
H619R |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,479,259 (GRCm39) |
L1452Q |
probably damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,180,034 (GRCm39) |
S82G |
possibly damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,438,957 (GRCm39) |
|
probably benign |
Het |
| Bicra |
C |
A |
7: 15,706,247 (GRCm39) |
R1398L |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,340,597 (GRCm39) |
T118A |
probably benign |
Het |
| Btnl9 |
A |
G |
11: 49,066,422 (GRCm39) |
Y381H |
probably damaging |
Het |
| Cbln3 |
T |
G |
14: 56,121,586 (GRCm39) |
E20A |
probably benign |
Het |
| Cdc42ep5 |
A |
G |
7: 4,154,482 (GRCm39) |
L102P |
probably damaging |
Het |
| Csrnp3 |
A |
G |
2: 65,849,887 (GRCm39) |
Y171C |
probably benign |
Het |
| Cyp2d9 |
A |
T |
15: 82,340,152 (GRCm39) |
I181F |
probably damaging |
Het |
| Cyp7b1 |
T |
A |
3: 18,150,855 (GRCm39) |
T295S |
probably damaging |
Het |
| Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
| Dok1 |
A |
T |
6: 83,008,550 (GRCm39) |
D377E |
probably damaging |
Het |
| Eed |
A |
T |
7: 89,620,760 (GRCm39) |
Y87* |
probably null |
Het |
| Entpd3 |
T |
C |
9: 120,386,487 (GRCm39) |
V156A |
probably damaging |
Het |
| Exo5 |
T |
A |
4: 120,779,269 (GRCm39) |
T199S |
probably damaging |
Het |
| Extl2 |
T |
C |
3: 115,818,006 (GRCm39) |
I106T |
probably benign |
Het |
| Ezh2 |
A |
G |
6: 47,528,660 (GRCm39) |
C291R |
probably benign |
Het |
| Flvcr1 |
A |
T |
1: 190,743,416 (GRCm39) |
M466K |
probably benign |
Het |
| Fras1 |
G |
T |
5: 96,839,231 (GRCm39) |
M1583I |
probably benign |
Het |
| Fzd9 |
G |
T |
5: 135,278,473 (GRCm39) |
R471S |
probably damaging |
Het |
| Galr1 |
A |
T |
18: 82,423,665 (GRCm39) |
F204Y |
probably damaging |
Het |
| Gna11 |
A |
T |
10: 81,366,738 (GRCm39) |
I324N |
probably damaging |
Het |
| Gucy1a2 |
A |
G |
9: 3,759,484 (GRCm39) |
E430G |
possibly damaging |
Het |
| Hhatl |
C |
T |
9: 121,617,828 (GRCm39) |
A254T |
probably benign |
Het |
| Ikzf1 |
A |
C |
11: 11,719,352 (GRCm39) |
N353T |
probably benign |
Het |
| Il7 |
T |
A |
3: 7,641,087 (GRCm39) |
T110S |
probably damaging |
Het |
| Keg1 |
A |
G |
19: 12,688,424 (GRCm39) |
N53D |
probably damaging |
Het |
| Klhl21 |
T |
C |
4: 152,099,964 (GRCm39) |
I558T |
probably damaging |
Het |
| Lca5l |
G |
A |
16: 95,963,853 (GRCm39) |
T357M |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,622,961 (GRCm39) |
S2448P |
probably damaging |
Het |
| Map3k6 |
T |
A |
4: 132,975,393 (GRCm39) |
Y709* |
probably null |
Het |
| Megf6 |
A |
G |
4: 154,352,424 (GRCm39) |
E1261G |
probably benign |
Het |
| Mettl3 |
C |
T |
14: 52,534,155 (GRCm39) |
G473D |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,733,271 (GRCm39) |
I40V |
probably damaging |
Het |
| Mmp13 |
T |
A |
9: 7,276,602 (GRCm39) |
D232E |
probably benign |
Het |
| Nampt |
T |
C |
12: 32,883,100 (GRCm39) |
V95A |
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,286,893 (GRCm39) |
V905A |
probably benign |
Het |
| Nomo1 |
A |
T |
7: 45,718,122 (GRCm39) |
E840V |
possibly damaging |
Het |
| Nprl2 |
A |
T |
9: 107,420,497 (GRCm39) |
I101F |
probably damaging |
Het |
| Nup160 |
A |
T |
2: 90,565,771 (GRCm39) |
I1378F |
possibly damaging |
Het |
| Ogdhl |
T |
C |
14: 32,048,936 (GRCm39) |
S69P |
probably damaging |
Het |
| Or2y17 |
T |
A |
11: 49,231,500 (GRCm39) |
I47N |
possibly damaging |
Het |
| Or4a68 |
C |
A |
2: 89,270,519 (GRCm39) |
V35L |
possibly damaging |
Het |
| Or4k77 |
A |
G |
2: 111,199,450 (GRCm39) |
S158G |
possibly damaging |
Het |
| Or5be3 |
A |
T |
2: 86,863,789 (GRCm39) |
Y259N |
probably damaging |
Het |
| Or8b12i |
G |
A |
9: 20,082,510 (GRCm39) |
A119V |
probably damaging |
Het |
| Or8c16 |
A |
G |
9: 38,130,751 (GRCm39) |
I211V |
probably benign |
Het |
| Or8c8 |
T |
C |
9: 38,165,160 (GRCm39) |
F149S |
probably benign |
Het |
| Osbpl3 |
C |
T |
6: 50,324,998 (GRCm39) |
V167I |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,763,036 (GRCm39) |
H3836Q |
unknown |
Het |
| Prkcg |
A |
T |
7: 3,352,820 (GRCm39) |
|
probably null |
Het |
| Slc36a2 |
C |
T |
11: 55,072,370 (GRCm39) |
|
probably null |
Het |
| Slc40a1 |
G |
A |
1: 45,950,534 (GRCm39) |
P306L |
possibly damaging |
Het |
| Slc9a8 |
C |
A |
2: 167,299,264 (GRCm39) |
T239K |
probably benign |
Het |
| Snapc3 |
A |
G |
4: 83,368,399 (GRCm39) |
I299V |
probably benign |
Het |
| Sp3 |
G |
A |
2: 72,801,845 (GRCm39) |
A56V |
possibly damaging |
Het |
| Spag17 |
T |
A |
3: 99,972,870 (GRCm39) |
S1361T |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,787,954 (GRCm39) |
T978A |
probably benign |
Het |
| Stom |
C |
A |
2: 35,211,644 (GRCm39) |
V126F |
probably damaging |
Het |
| Stpg2 |
A |
G |
3: 138,924,082 (GRCm39) |
T162A |
probably damaging |
Het |
| Stxbp6 |
G |
A |
12: 44,949,740 (GRCm39) |
T63M |
probably damaging |
Het |
| Tatdn1 |
A |
C |
15: 58,793,199 (GRCm39) |
I69S |
probably benign |
Het |
| Tbata |
A |
T |
10: 61,016,118 (GRCm39) |
D198V |
probably damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,063,733 (GRCm39) |
I638V |
probably benign |
Het |
| Tomm70a |
A |
G |
16: 56,970,266 (GRCm39) |
D548G |
probably benign |
Het |
| Ust |
A |
G |
10: 8,121,700 (GRCm39) |
F303L |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,703,130 (GRCm39) |
S4306P |
probably benign |
Het |
| Zbed6 |
A |
T |
1: 133,586,276 (GRCm39) |
S354T |
probably benign |
Het |
| Zfp691 |
A |
G |
4: 119,027,693 (GRCm39) |
S180P |
possibly 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 |
|
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 |
|
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'- ACCTGGATATTTGAAAGGTGACTG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation