Incidental Mutation 'R6339:Ror1'
| ID |
513808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ror1
|
| Ensembl Gene |
ENSMUSG00000035305 |
| Gene Name |
receptor tyrosine kinase-like orphan receptor 1 |
| Synonyms |
Ntrkr1, 2810404D04Rik |
| MMRRC Submission |
044493-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6339 (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 T
at 100269128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 322
(R322L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039630]
|
| AlphaFold |
Q9Z139 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039630
AA Change: R322L
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: R322L
| 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 |
0.9027 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 94.1%
|
| Validation Efficiency |
97% (69/71) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933424G06Rik |
A |
T |
1: 36,749,542 (GRCm39) |
|
probably benign |
Het |
| Adgrg6 |
G |
T |
10: 14,310,091 (GRCm39) |
S743R |
probably damaging |
Het |
| Ak8 |
A |
G |
2: 28,624,460 (GRCm39) |
|
probably null |
Het |
| Alpk2 |
A |
G |
18: 65,482,877 (GRCm39) |
M377T |
probably benign |
Het |
| Ap1g1 |
G |
A |
8: 110,571,000 (GRCm39) |
V425I |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,066,188 (GRCm39) |
R4353W |
probably damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,839,423 (GRCm39) |
K540R |
probably benign |
Het |
| B3galt2 |
A |
T |
1: 143,522,640 (GRCm39) |
T259S |
possibly damaging |
Het |
| Btbd8 |
G |
A |
5: 107,651,583 (GRCm39) |
V159I |
probably benign |
Het |
| C2cd2l |
T |
C |
9: 44,224,788 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
T |
C |
14: 55,737,306 (GRCm39) |
V763A |
possibly damaging |
Het |
| Ccdc171 |
A |
T |
4: 83,661,234 (GRCm39) |
T1115S |
probably damaging |
Het |
| Chst2 |
C |
T |
9: 95,287,803 (GRCm39) |
G181D |
probably damaging |
Het |
| Col7a1 |
C |
T |
9: 108,785,701 (GRCm39) |
T390M |
unknown |
Het |
| Cpt1a |
A |
C |
19: 3,412,152 (GRCm39) |
D208A |
probably benign |
Het |
| Crocc2 |
A |
G |
1: 93,141,754 (GRCm39) |
E1183G |
probably benign |
Het |
| Defa39 |
G |
A |
8: 22,193,485 (GRCm39) |
S45F |
possibly damaging |
Het |
| Dlg5 |
T |
A |
14: 24,208,128 (GRCm39) |
H1003L |
probably damaging |
Het |
| Dok2 |
A |
T |
14: 71,013,158 (GRCm39) |
I109L |
probably benign |
Het |
| Dpy19l4 |
A |
T |
4: 11,285,111 (GRCm39) |
I465K |
probably damaging |
Het |
| Dync1h1 |
A |
T |
12: 110,612,639 (GRCm39) |
D2838V |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,339,644 (GRCm39) |
R646G |
possibly damaging |
Het |
| Gcfc2 |
T |
A |
6: 81,923,477 (GRCm39) |
F514I |
probably damaging |
Het |
| Gm8104 |
T |
C |
14: 42,958,942 (GRCm39) |
M44T |
probably benign |
Het |
| Golph3l |
T |
A |
3: 95,524,750 (GRCm39) |
W334R |
probably damaging |
Het |
| Gpr179 |
A |
T |
11: 97,235,002 (GRCm39) |
F443I |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,413,927 (GRCm39) |
V1467A |
probably benign |
Het |
| Ift172 |
A |
T |
5: 31,444,289 (GRCm39) |
D44E |
probably damaging |
Het |
| Il1rl1 |
C |
T |
1: 40,501,016 (GRCm39) |
A464V |
possibly damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,481 (GRCm39) |
E188G |
probably damaging |
Het |
| Jak1 |
A |
G |
4: 101,019,123 (GRCm39) |
V710A |
probably damaging |
Het |
| Kcng4 |
A |
T |
8: 120,359,693 (GRCm39) |
F228I |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,196,530 (GRCm39) |
N238S |
probably benign |
Het |
| Ltbp3 |
C |
A |
19: 5,797,505 (GRCm39) |
H414Q |
probably damaging |
Het |
| Mcpt8 |
A |
G |
14: 56,319,794 (GRCm39) |
C219R |
probably benign |
Het |
| Mepce |
A |
T |
5: 137,783,950 (GRCm39) |
N125K |
possibly damaging |
Het |
| Mfap3 |
T |
C |
11: 57,420,598 (GRCm39) |
F193S |
probably damaging |
Het |
| Miox |
T |
A |
15: 89,219,702 (GRCm39) |
Y63* |
probably null |
Het |
| Msl2 |
A |
T |
9: 100,978,949 (GRCm39) |
H441L |
probably benign |
Het |
| Nemp2 |
T |
A |
1: 52,680,069 (GRCm39) |
S98T |
possibly damaging |
Het |
| Neto2 |
G |
T |
8: 86,367,187 (GRCm39) |
A547E |
probably benign |
Het |
| Nol12 |
T |
C |
15: 78,825,033 (GRCm39) |
|
probably benign |
Het |
| Npr3 |
T |
C |
15: 11,845,361 (GRCm39) |
I504V |
probably damaging |
Het |
| Or4c106 |
A |
G |
2: 88,683,215 (GRCm39) |
D307G |
probably null |
Het |
| Pcdhb3 |
T |
C |
18: 37,433,998 (GRCm39) |
|
probably benign |
Het |
| Pear1 |
C |
A |
3: 87,659,827 (GRCm39) |
G720W |
probably damaging |
Het |
| Pibf1 |
T |
G |
14: 99,344,834 (GRCm39) |
D151E |
probably damaging |
Het |
| Pla2g6 |
T |
A |
15: 79,193,016 (GRCm39) |
N217I |
probably damaging |
Het |
| Plcd1 |
G |
A |
9: 118,904,059 (GRCm39) |
R292C |
probably damaging |
Het |
| Plcl1 |
C |
T |
1: 55,735,474 (GRCm39) |
L272F |
probably damaging |
Het |
| Ppp4r4 |
A |
T |
12: 103,571,228 (GRCm39) |
K656* |
probably null |
Het |
| Prr22 |
G |
A |
17: 57,078,490 (GRCm39) |
M214I |
probably benign |
Het |
| Sh3tc2 |
G |
A |
18: 62,108,642 (GRCm39) |
W244* |
probably null |
Het |
| Slamf6 |
A |
G |
1: 171,775,615 (GRCm39) |
N320S |
probably null |
Het |
| Slc1a6 |
A |
C |
10: 78,635,919 (GRCm39) |
D328A |
possibly damaging |
Het |
| Sorl1 |
G |
T |
9: 41,881,038 (GRCm39) |
T2161K |
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,721,586 (GRCm39) |
D1198V |
probably benign |
Het |
| Sstr2 |
T |
C |
11: 113,515,375 (GRCm39) |
F98S |
probably damaging |
Het |
| Stk33 |
A |
T |
7: 108,920,672 (GRCm39) |
D348E |
probably benign |
Het |
| Sulf1 |
T |
A |
1: 12,908,664 (GRCm39) |
L559Q |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,035,927 (GRCm39) |
D3738G |
probably benign |
Het |
| Taok3 |
A |
T |
5: 117,366,095 (GRCm39) |
Q382L |
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,192,178 (GRCm39) |
H752L |
possibly damaging |
Het |
| Tia1 |
A |
C |
6: 86,403,638 (GRCm39) |
K285T |
probably damaging |
Het |
| Tle3 |
G |
T |
9: 61,309,206 (GRCm39) |
|
probably null |
Het |
| Top1mt |
T |
C |
15: 75,537,505 (GRCm39) |
T414A |
possibly damaging |
Het |
| Ubc |
A |
T |
5: 125,464,406 (GRCm39) |
I307N |
probably damaging |
Het |
| Vmn2r96 |
A |
T |
17: 18,804,124 (GRCm39) |
D266V |
possibly damaging |
Het |
| Wbp2nl |
G |
T |
15: 82,183,246 (GRCm39) |
W13C |
possibly damaging |
Het |
| Zfp456 |
T |
A |
13: 67,510,483 (GRCm39) |
K102* |
probably null |
Het |
| Zkscan1 |
T |
C |
5: 138,091,567 (GRCm39) |
V100A |
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 |
|
|
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'- TGCACTAATCTGCCTGGAGAAAG -3'
(R):5'- TAACTTCTATTTACCACATGCTGGG -3'
Sequencing Primer
(F):5'- TCTGCCTGGAGAAAGACCTTC -3'
(R):5'- TACCACATGCTGGGATGTCAC -3'
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| Posted On |
2018-04-27 |
Incidental Mutation