Incidental Mutation 'R8862:Ror1'
| ID |
675699 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ror1
|
| Ensembl Gene |
ENSMUSG00000035305 |
| Gene Name |
receptor tyrosine kinase-like orphan receptor 1 |
| Synonyms |
Ntrkr1, 2810404D04Rik |
| MMRRC Submission |
068741-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8862 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
99952988-100301962 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 100191715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039630]
|
| AlphaFold |
Q9Z139 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039630
|
| SMART Domains |
Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
C |
T |
14: 54,901,172 (GRCm39) |
G685R |
probably benign |
Het |
| Ahdc1 |
T |
C |
4: 132,791,129 (GRCm39) |
F790S |
possibly damaging |
Het |
| Alg10b |
T |
C |
15: 90,109,893 (GRCm39) |
Y69H |
probably damaging |
Het |
| Amer3 |
A |
T |
1: 34,626,465 (GRCm39) |
S235C |
probably damaging |
Het |
| Ankfy1 |
G |
T |
11: 72,644,469 (GRCm39) |
S722I |
probably benign |
Het |
| Baz1a |
T |
C |
12: 55,032,624 (GRCm39) |
|
probably benign |
Het |
| Ccdc177 |
A |
G |
12: 80,804,208 (GRCm39) |
S689P |
unknown |
Het |
| Cdh24 |
C |
A |
14: 54,869,874 (GRCm39) |
R681L |
probably damaging |
Het |
| Cdk14 |
T |
G |
5: 5,060,862 (GRCm39) |
I338L |
probably benign |
Het |
| Clec2m |
T |
C |
6: 129,308,494 (GRCm39) |
T12A |
probably benign |
Het |
| Col18a1 |
G |
T |
10: 76,949,044 (GRCm39) |
S156* |
probably null |
Het |
| Col6a6 |
T |
C |
9: 105,663,348 (GRCm39) |
Y63C |
probably damaging |
Het |
| Cytip |
G |
A |
2: 58,037,887 (GRCm39) |
T159M |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,459,502 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,855,927 (GRCm39) |
Y744C |
probably damaging |
Het |
| Dop1a |
T |
C |
9: 86,406,404 (GRCm39) |
|
probably null |
Het |
| Dse |
A |
T |
10: 34,029,934 (GRCm39) |
D385E |
probably damaging |
Het |
| Efhc1 |
A |
C |
1: 21,037,573 (GRCm39) |
D250A |
|
Het |
| Epha3 |
T |
A |
16: 63,431,348 (GRCm39) |
T519S |
probably benign |
Het |
| Gas2l3 |
A |
G |
10: 89,250,282 (GRCm39) |
Y279H |
probably damaging |
Het |
| Gatd3a |
A |
G |
10: 78,005,461 (GRCm39) |
S35P |
probably damaging |
Het |
| Gemin6 |
G |
A |
17: 80,535,432 (GRCm39) |
V131I |
probably damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Gnai2 |
C |
A |
9: 107,512,326 (GRCm39) |
A31S |
|
Het |
| Greb1l |
A |
G |
18: 10,555,042 (GRCm39) |
D1696G |
possibly damaging |
Het |
| Itfg2 |
T |
C |
6: 128,394,668 (GRCm39) |
E35G |
probably damaging |
Het |
| Kctd10 |
A |
G |
5: 114,503,921 (GRCm39) |
F244L |
probably damaging |
Het |
| Kif19b |
C |
A |
5: 140,472,534 (GRCm39) |
P686Q |
probably damaging |
Het |
| Krtap5-1 |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
7: 141,850,333 (GRCm39) |
|
probably benign |
Het |
| Lgals9 |
G |
T |
11: 78,860,716 (GRCm39) |
|
probably benign |
Het |
| Lrriq4 |
A |
T |
3: 30,705,088 (GRCm39) |
N372I |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,910,574 (GRCm39) |
N248S |
probably damaging |
Het |
| Mipep |
T |
A |
14: 61,080,689 (GRCm39) |
C560* |
probably null |
Het |
| Myo1a |
G |
A |
10: 127,548,653 (GRCm39) |
V396M |
probably benign |
Het |
| Myod1 |
A |
G |
7: 46,026,487 (GRCm39) |
T131A |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,647,199 (GRCm39) |
D558V |
possibly damaging |
Het |
| Odf2l |
T |
A |
3: 144,833,758 (GRCm39) |
|
probably benign |
Het |
| Or6d13 |
G |
A |
6: 116,518,186 (GRCm39) |
M257I |
probably benign |
Het |
| Plbd2 |
A |
T |
5: 120,624,728 (GRCm39) |
M480K |
probably damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,631,235 (GRCm39) |
F465L |
possibly damaging |
Het |
| Ppp1r15b |
A |
T |
1: 133,064,506 (GRCm39) |
I659F |
probably damaging |
Het |
| Prune2 |
C |
T |
19: 17,097,510 (GRCm39) |
L1005F |
probably benign |
Het |
| Pter |
T |
C |
2: 12,985,341 (GRCm39) |
S224P |
probably damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,266,731 (GRCm39) |
I615T |
probably benign |
Het |
| Rps2 |
A |
G |
17: 24,940,662 (GRCm39) |
T259A |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGCCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| S1pr4 |
G |
A |
10: 81,334,533 (GRCm39) |
R314C |
probably damaging |
Het |
| Sema4f |
A |
T |
6: 82,891,081 (GRCm39) |
H575Q |
probably benign |
Het |
| Son |
A |
G |
16: 91,453,734 (GRCm39) |
D827G |
probably damaging |
Het |
| Sox8 |
A |
T |
17: 25,787,045 (GRCm39) |
H219Q |
possibly damaging |
Het |
| Spink2 |
C |
T |
5: 77,357,615 (GRCm39) |
D24N |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,534,099 (GRCm39) |
D3452G |
probably benign |
Het |
| Syngr2 |
G |
T |
11: 117,703,507 (GRCm39) |
D108Y |
probably damaging |
Het |
| Tardbp |
G |
A |
4: 148,702,755 (GRCm39) |
S403L |
possibly damaging |
Het |
| Tomm70a |
T |
C |
16: 56,942,546 (GRCm39) |
S108P |
probably benign |
Het |
| Ttc12 |
T |
C |
9: 49,351,515 (GRCm39) |
T661A |
probably benign |
Het |
| Tubgcp6 |
A |
G |
15: 89,006,824 (GRCm39) |
V66A |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,235,207 (GRCm39) |
L477Q |
probably damaging |
Het |
| Vmn1r77 |
T |
A |
7: 11,776,060 (GRCm39) |
C279S |
probably benign |
Het |
| Vmn2r79 |
T |
C |
7: 86,645,712 (GRCm39) |
S14P |
probably benign |
Het |
| Zan |
T |
C |
5: 137,472,674 (GRCm39) |
T72A |
probably benign |
Het |
| Zcchc2 |
A |
G |
1: 105,958,998 (GRCm39) |
*1156W |
probably null |
Het |
| Zfp354c |
A |
T |
11: 50,708,718 (GRCm39) |
D26E |
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 |
|
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 |
|
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'- AGATGGGCATGTTCTCACTGG -3'
(R):5'- GCTTTGATCAGTCAGATTCCTG -3'
Sequencing Primer
(F):5'- CACTGGTATTCTTTGATTCACAGAGG -3'
(R):5'- TCGCCAGGCTGGAGATGAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation