Incidental Mutation 'R4990:Ror1'
| ID |
386115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ror1
|
| Ensembl Gene |
ENSMUSG00000035305 |
| Gene Name |
receptor tyrosine kinase-like orphan receptor 1 |
| Synonyms |
Ntrkr1, 2810404D04Rik |
| MMRRC Submission |
042584-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4990 (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 G
at 100299161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 845
(I845V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039630]
|
| AlphaFold |
Q9Z139 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039630
AA Change: I845V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: I845V
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,334,098 (GRCm39) |
I1135V |
possibly damaging |
Het |
| Abca14 |
G |
A |
7: 119,911,388 (GRCm39) |
R1324K |
probably benign |
Het |
| Amer3 |
A |
C |
1: 34,627,822 (GRCm39) |
D687A |
probably benign |
Het |
| Aplnr |
G |
A |
2: 84,967,721 (GRCm39) |
V249M |
probably damaging |
Het |
| Atg16l1 |
A |
G |
1: 87,717,091 (GRCm39) |
K471R |
probably benign |
Het |
| Cacna1b |
A |
G |
2: 24,568,886 (GRCm39) |
|
probably null |
Het |
| Catspere2 |
A |
C |
1: 177,925,987 (GRCm39) |
I218L |
probably benign |
Het |
| Ccdc152 |
A |
G |
15: 3,330,639 (GRCm39) |
I12T |
probably benign |
Het |
| Cds1 |
A |
G |
5: 101,946,245 (GRCm39) |
Y148C |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,962,401 (GRCm39) |
L1989Q |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,243,434 (GRCm39) |
Q1674R |
probably damaging |
Het |
| D930020B18Rik |
C |
G |
10: 121,490,666 (GRCm39) |
P89A |
probably damaging |
Het |
| D930020B18Rik |
C |
T |
10: 121,490,667 (GRCm39) |
P89L |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,586,078 (GRCm39) |
M535V |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,626,715 (GRCm39) |
V398A |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,526,689 (GRCm39) |
F413S |
probably damaging |
Het |
| Emb |
T |
A |
13: 117,401,046 (GRCm39) |
N198K |
probably damaging |
Het |
| Eno3 |
A |
G |
11: 70,549,473 (GRCm39) |
D98G |
probably damaging |
Het |
| Fbp1 |
C |
T |
13: 63,012,888 (GRCm39) |
V102I |
probably benign |
Het |
| Fbxw18 |
T |
C |
9: 109,517,461 (GRCm39) |
E414G |
probably damaging |
Het |
| Grem2 |
A |
G |
1: 174,664,379 (GRCm39) |
C157R |
probably damaging |
Het |
| Hnrnpr |
G |
A |
4: 136,063,609 (GRCm39) |
V239I |
probably damaging |
Het |
| Hnrnpr |
A |
G |
4: 136,056,690 (GRCm39) |
E230G |
probably damaging |
Het |
| Ipo11 |
A |
T |
13: 106,997,395 (GRCm39) |
I688K |
probably benign |
Het |
| Irx4 |
G |
T |
13: 73,413,626 (GRCm39) |
R32L |
probably benign |
Het |
| Kcnh7 |
T |
C |
2: 62,564,632 (GRCm39) |
N876D |
probably benign |
Het |
| Klk1b26 |
T |
A |
7: 43,665,673 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
G |
T |
2: 69,311,732 (GRCm39) |
T2582K |
probably benign |
Het |
| Lrriq1 |
A |
G |
10: 103,036,420 (GRCm39) |
I911T |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,351,683 (GRCm39) |
E1132G |
possibly damaging |
Het |
| Mesp1 |
A |
G |
7: 79,442,669 (GRCm39) |
Y203H |
probably damaging |
Het |
| Ms4a4a |
T |
C |
19: 11,356,201 (GRCm39) |
S29P |
probably benign |
Het |
| Nbeal2 |
A |
C |
9: 110,463,871 (GRCm39) |
C1174G |
probably benign |
Het |
| Neb |
C |
T |
2: 52,145,558 (GRCm39) |
V2989I |
probably benign |
Het |
| Nkx2-1 |
T |
C |
12: 56,581,724 (GRCm39) |
Y41C |
possibly damaging |
Het |
| Nrxn3 |
T |
A |
12: 89,227,244 (GRCm39) |
I293N |
probably damaging |
Het |
| Nt5e |
A |
G |
9: 88,237,646 (GRCm39) |
N192S |
probably benign |
Het |
| Ntng1 |
A |
T |
3: 110,042,577 (GRCm39) |
|
probably null |
Het |
| Or13a17 |
G |
A |
7: 140,271,360 (GRCm39) |
E181K |
probably damaging |
Het |
| Or3a1d |
A |
G |
11: 74,238,023 (GRCm39) |
I129T |
probably damaging |
Het |
| Or4c110 |
A |
T |
2: 88,831,816 (GRCm39) |
I272K |
probably damaging |
Het |
| Or4c15b |
A |
T |
2: 89,113,671 (GRCm39) |
|
probably null |
Het |
| Panx1 |
A |
G |
9: 14,921,513 (GRCm39) |
Y121H |
probably damaging |
Het |
| Pcsk4 |
A |
G |
10: 80,161,215 (GRCm39) |
I233T |
possibly damaging |
Het |
| Pgm3 |
T |
A |
9: 86,440,465 (GRCm39) |
I409F |
probably damaging |
Het |
| Plg |
T |
C |
17: 12,630,397 (GRCm39) |
Y645H |
probably benign |
Het |
| Pon3 |
T |
C |
6: 5,221,619 (GRCm39) |
H337R |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,474,042 (GRCm39) |
I162T |
probably benign |
Het |
| Rpl4 |
T |
C |
9: 64,082,167 (GRCm39) |
V22A |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,740,318 (GRCm39) |
N531S |
probably damaging |
Het |
| Ryr3 |
G |
T |
2: 112,466,122 (GRCm39) |
Q4746K |
probably damaging |
Het |
| Sbno1 |
A |
T |
5: 124,538,228 (GRCm39) |
F571I |
probably damaging |
Het |
| Scarf1 |
T |
C |
11: 75,416,841 (GRCm39) |
V761A |
probably benign |
Het |
| Sec22b |
T |
G |
3: 97,828,427 (GRCm39) |
|
probably null |
Het |
| Slc45a2 |
A |
G |
15: 11,001,236 (GRCm39) |
M112V |
probably benign |
Het |
| Snai3 |
G |
A |
8: 123,183,071 (GRCm39) |
T158M |
possibly damaging |
Het |
| Spata31d1a |
T |
C |
13: 59,850,965 (GRCm39) |
N388D |
probably benign |
Het |
| Speer1e |
A |
T |
5: 11,236,381 (GRCm39) |
E138V |
probably damaging |
Het |
| Sv2b |
T |
C |
7: 74,767,470 (GRCm39) |
N642S |
possibly damaging |
Het |
| Svil |
T |
A |
18: 5,056,810 (GRCm39) |
I561K |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,943,930 (GRCm39) |
D1127E |
probably benign |
Het |
| Triobp |
C |
A |
15: 78,851,205 (GRCm39) |
A453D |
probably benign |
Het |
| Tubd1 |
T |
C |
11: 86,448,665 (GRCm39) |
L295P |
probably damaging |
Het |
| Ulk4 |
C |
T |
9: 121,021,852 (GRCm39) |
V620I |
probably benign |
Het |
| Vmn2r39 |
A |
G |
7: 9,026,675 (GRCm39) |
I442T |
probably benign |
Het |
| Wwc1 |
T |
C |
11: 35,767,393 (GRCm39) |
T413A |
probably benign |
Het |
| Zfp131 |
A |
C |
13: 120,244,449 (GRCm39) |
V77G |
probably damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,334,607 (GRCm39) |
D137G |
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 |
|
|
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'- CCAATTACATGTTCCCGAGCC -3'
(R):5'- CAAGCAAAGACGATTGTTTTGAGTC -3'
Sequencing Primer
(F):5'- CGAGCCAAGGGATTACACC -3'
(R):5'- TTGTTGCCAAAAACAGTGATACCC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation