Incidental Mutation 'R7121:Ror1'
ID |
551991 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ror1
|
Ensembl Gene |
ENSMUSG00000035305 |
Gene Name |
receptor tyrosine kinase-like orphan receptor 1 |
Synonyms |
Ntrkr1, 2810404D04Rik |
MMRRC Submission |
045210-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7121 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
99952988-100301962 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 100160142 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 53
(D53N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039630]
|
AlphaFold |
Q9Z139 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039630
AA Change: D53N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000048171 Gene: ENSMUSG00000035305 AA Change: D53N
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
99% (71/72) |
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 |
4933411K16Rik |
C |
T |
19: 42,041,112 (GRCm39) |
A81V |
probably benign |
Het |
Abcc9 |
A |
T |
6: 142,634,853 (GRCm39) |
L137* |
probably null |
Het |
Akap10 |
A |
G |
11: 61,777,524 (GRCm39) |
|
probably null |
Het |
Alms1 |
T |
A |
6: 85,601,604 (GRCm39) |
Y1683N |
probably damaging |
Het |
Atl1 |
A |
G |
12: 69,978,408 (GRCm39) |
S127G |
probably damaging |
Het |
Cadm1 |
G |
A |
9: 47,710,708 (GRCm39) |
V204M |
probably damaging |
Het |
Cbr3 |
T |
A |
16: 93,487,438 (GRCm39) |
I207N |
probably damaging |
Het |
Ccdc148 |
A |
T |
2: 58,717,579 (GRCm39) |
Y475N |
probably damaging |
Het |
Ccdc33 |
A |
T |
9: 57,988,167 (GRCm39) |
S144T |
probably benign |
Het |
Ceacam5 |
C |
A |
7: 17,479,462 (GRCm39) |
A193E |
probably benign |
Het |
Chd2 |
T |
C |
7: 73,119,418 (GRCm39) |
D1042G |
probably benign |
Het |
Chmp5 |
A |
T |
4: 40,952,217 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
T |
A |
3: 144,717,567 (GRCm39) |
N467I |
probably damaging |
Het |
D130040H23Rik |
T |
C |
8: 69,754,931 (GRCm39) |
V112A |
probably damaging |
Het |
Dbh |
A |
T |
2: 27,058,318 (GRCm39) |
D162V |
probably damaging |
Het |
Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
Dnm2 |
C |
T |
9: 21,385,862 (GRCm39) |
T295I |
probably benign |
Het |
Faiml |
A |
C |
9: 99,116,446 (GRCm39) |
D81E |
probably benign |
Het |
Fer1l4 |
T |
A |
2: 155,886,477 (GRCm39) |
Y720F |
probably benign |
Het |
Fn1 |
A |
C |
1: 71,639,697 (GRCm39) |
|
probably benign |
Het |
Ftsj3 |
T |
C |
11: 106,143,123 (GRCm39) |
E397G |
probably damaging |
Het |
Gm16506 |
T |
C |
14: 43,964,817 (GRCm39) |
K42E |
|
Het |
Gpr179 |
A |
G |
11: 97,225,556 (GRCm39) |
S2200P |
probably benign |
Het |
Gusb |
T |
C |
5: 130,028,884 (GRCm39) |
D202G |
probably benign |
Het |
Hspe1 |
A |
G |
1: 55,128,310 (GRCm39) |
E35G |
probably damaging |
Het |
Kptn |
T |
A |
7: 15,857,023 (GRCm39) |
H170Q |
probably damaging |
Het |
Lama3 |
G |
A |
18: 12,595,839 (GRCm39) |
A923T |
probably benign |
Het |
Lmo7 |
T |
A |
14: 102,124,471 (GRCm39) |
I432K |
probably damaging |
Het |
Maneal |
G |
A |
4: 124,750,905 (GRCm39) |
P284S |
probably benign |
Het |
Mrgbp |
A |
G |
2: 180,224,682 (GRCm39) |
T28A |
probably benign |
Het |
Myo1h |
T |
C |
5: 114,476,290 (GRCm39) |
V493A |
|
Het |
Naxd |
T |
C |
8: 11,556,745 (GRCm39) |
L122P |
probably damaging |
Het |
Neto2 |
T |
C |
8: 86,397,020 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
A |
11: 58,904,078 (GRCm39) |
R7299* |
probably null |
Het |
Odf2l |
G |
A |
3: 144,845,581 (GRCm39) |
V363I |
possibly damaging |
Het |
Or2g25 |
T |
C |
17: 37,970,699 (GRCm39) |
H175R |
probably damaging |
Het |
Or2t35 |
A |
G |
14: 14,407,998 (GRCm38) |
T257A |
possibly damaging |
Het |
Or4c100 |
A |
T |
2: 88,356,170 (GRCm39) |
D81V |
probably damaging |
Het |
Or52a5b |
A |
T |
7: 103,416,940 (GRCm39) |
Y221* |
probably null |
Het |
Or5b105 |
T |
A |
19: 13,080,537 (GRCm39) |
I44F |
probably benign |
Het |
Otud3 |
G |
A |
4: 138,624,067 (GRCm39) |
P325L |
probably benign |
Het |
Palb2 |
T |
C |
7: 121,724,057 (GRCm39) |
N564S |
probably benign |
Het |
Pcnt |
A |
G |
10: 76,263,761 (GRCm39) |
V401A |
possibly damaging |
Het |
Plcd4 |
G |
A |
1: 74,604,524 (GRCm39) |
E767K |
probably benign |
Het |
Ppp3ca |
T |
C |
3: 136,574,387 (GRCm39) |
F95S |
probably damaging |
Het |
Prkar2a |
A |
G |
9: 108,569,821 (GRCm39) |
T56A |
probably benign |
Het |
Psma2 |
T |
A |
13: 14,799,815 (GRCm39) |
D186E |
probably benign |
Het |
Psmd11 |
T |
A |
11: 80,329,099 (GRCm39) |
Y72* |
probably null |
Het |
Rubcn |
C |
T |
16: 32,656,839 (GRCm39) |
R527Q |
probably damaging |
Het |
Sgca |
G |
A |
11: 94,860,373 (GRCm39) |
P255S |
possibly damaging |
Het |
Skint11 |
A |
T |
4: 114,084,993 (GRCm39) |
R167S |
probably benign |
Het |
Slco5a1 |
A |
G |
1: 13,060,661 (GRCm39) |
V20A |
probably benign |
Het |
Snai2 |
T |
C |
16: 14,524,970 (GRCm39) |
S159P |
probably benign |
Het |
Taar2 |
T |
G |
10: 23,816,725 (GRCm39) |
S88R |
probably damaging |
Het |
Tacc3 |
T |
A |
5: 33,824,509 (GRCm39) |
N378K |
possibly damaging |
Het |
Tek |
A |
G |
4: 94,699,647 (GRCm39) |
K342E |
probably benign |
Het |
Tm9sf3 |
G |
T |
19: 41,233,944 (GRCm39) |
S198* |
probably null |
Het |
Tmbim4 |
T |
A |
10: 120,051,514 (GRCm39) |
F56I |
possibly damaging |
Het |
Tsen34 |
T |
A |
7: 3,697,986 (GRCm39) |
S85T |
probably benign |
Het |
Ttc27 |
C |
A |
17: 75,054,710 (GRCm39) |
Q339K |
probably benign |
Het |
Ubap2 |
G |
T |
4: 41,205,550 (GRCm39) |
P636T |
probably benign |
Het |
Ubr1 |
G |
A |
2: 120,705,979 (GRCm39) |
L1495F |
probably benign |
Het |
Vsig10 |
T |
C |
5: 117,481,967 (GRCm39) |
S386P |
probably damaging |
Het |
Wnk2 |
C |
A |
13: 49,300,653 (GRCm39) |
R19L |
probably benign |
Het |
Wsb2 |
T |
C |
5: 117,508,944 (GRCm39) |
L126P |
probably damaging |
Het |
Xylb |
A |
G |
9: 119,211,358 (GRCm39) |
I402V |
probably benign |
Het |
Yrdc |
A |
G |
4: 124,744,748 (GRCm39) |
S61G |
probably benign |
Het |
Zbtb3 |
A |
G |
19: 8,780,771 (GRCm39) |
D128G |
probably damaging |
Het |
Zfp423 |
C |
T |
8: 88,507,489 (GRCm39) |
G952R |
probably damaging |
Het |
Zfp646 |
A |
G |
7: 127,478,944 (GRCm39) |
T374A |
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 |
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 |
R7054:Ror1
|
UTSW |
4 |
100,299,436 (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'- ACAGTCCCTCTCTGAAGGGAAC -3'
(R):5'- TCTTGAAGCGTTTTCACCATGTG -3'
Sequencing Primer
(F):5'- CCCCATAGAATATAATACTTCTGCCC -3'
(R):5'- CACCATGTGGAACATTTTAAATGAGG -3'
|
Posted On |
2019-05-15 |