Incidental Mutation 'R1450:Rp1l1'
| ID |
162171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rp1l1
|
| Ensembl Gene |
ENSMUSG00000046049 |
| Gene Name |
retinitis pigmentosa 1 homolog like 1 |
| Synonyms |
Dcdc4, Rp1hl1 |
| MMRRC Submission |
039505-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R1450 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
64229880-64270955 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64265599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 395
(I395N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058229]
|
| AlphaFold |
Q8CGM2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058229
AA Change: I395N
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000055449
Gene: ENSMUSG00000046049
AA Change: I395N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
DCX
|
37 |
121 |
1.58e-13 |
SMART |
|
DCX
|
155 |
239 |
1e-15 |
SMART |
|
low complexity region
|
709 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
870 |
884 |
N/A |
INTRINSIC |
|
low complexity region
|
1159 |
1177 |
N/A |
INTRINSIC |
|
low complexity region
|
1228 |
1239 |
N/A |
INTRINSIC |
|
low complexity region
|
1612 |
1618 |
N/A |
INTRINSIC |
|
low complexity region
|
1642 |
1652 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224314
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.0%
- 20x: 84.8%
|
| Validation Efficiency |
96% (73/76) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the doublecortin family. This protein is a retinal-specific protein. It contains two N-terminal doublecortin domains, which can assemble and stabilize axonemal microtubules, but lacks the C-terminal repetitive regions including the 16aa repeat found in human RP1L1. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit retinal photoreceptor abnormalities, including scattered outer segment disorganization, reduced electroretinogram amplitudes, and progressive retinal rod cell degeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,380,531 (GRCm39) |
|
probably benign |
Het |
| Adh4 |
C |
T |
3: 138,129,935 (GRCm39) |
P254S |
probably damaging |
Het |
| Amfr |
T |
C |
8: 94,714,375 (GRCm39) |
T223A |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,750,951 (GRCm39) |
T412A |
possibly damaging |
Het |
| Bag6 |
T |
A |
17: 35,360,934 (GRCm39) |
D422E |
probably benign |
Het |
| Ccdc185 |
T |
G |
1: 182,575,129 (GRCm39) |
Q520P |
possibly damaging |
Het |
| Cfap276 |
T |
A |
3: 108,449,799 (GRCm39) |
|
probably null |
Het |
| Clock |
G |
A |
5: 76,410,578 (GRCm39) |
Q98* |
probably null |
Het |
| Cngb3 |
A |
T |
4: 19,395,922 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
T |
G |
8: 15,995,180 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
G |
2: 13,365,130 (GRCm39) |
L1636P |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,818,947 (GRCm39) |
I1701V |
probably benign |
Het |
| Dgcr2 |
T |
C |
16: 17,674,678 (GRCm39) |
H243R |
possibly damaging |
Het |
| Dimt1 |
A |
G |
13: 107,084,151 (GRCm39) |
N46S |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,818,612 (GRCm39) |
Y58C |
probably damaging |
Het |
| Dsg1b |
T |
A |
18: 20,542,241 (GRCm39) |
V916E |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,227,476 (GRCm39) |
S1690P |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,251,340 (GRCm39) |
I2131K |
probably damaging |
Het |
| Epb41l1 |
T |
C |
2: 156,353,745 (GRCm39) |
|
probably benign |
Het |
| Fem1a |
T |
C |
17: 56,564,579 (GRCm39) |
V224A |
probably damaging |
Het |
| Got2 |
C |
T |
8: 96,598,614 (GRCm39) |
E203K |
probably benign |
Het |
| Hcar2 |
A |
T |
5: 124,002,813 (GRCm39) |
I230N |
probably damaging |
Het |
| Herc3 |
A |
T |
6: 58,853,500 (GRCm39) |
K554* |
probably null |
Het |
| Hfm1 |
A |
G |
5: 107,066,324 (GRCm39) |
F35L |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,528,257 (GRCm39) |
|
probably benign |
Het |
| Hoxa13 |
C |
G |
6: 52,260,647 (GRCm38) |
|
probably benign |
Het |
| Hoxa13 |
G |
C |
6: 52,260,648 (GRCm38) |
|
probably benign |
Het |
| Hs2st1 |
C |
T |
3: 144,140,479 (GRCm39) |
|
probably benign |
Het |
| Igfbp5 |
T |
A |
1: 72,913,048 (GRCm39) |
D84V |
probably benign |
Het |
| Ints3 |
C |
A |
3: 90,340,135 (GRCm39) |
L41F |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,181,805 (GRCm39) |
V966A |
probably benign |
Het |
| Kif26a |
C |
T |
12: 112,140,286 (GRCm39) |
T505M |
probably damaging |
Het |
| Kpna2 |
A |
G |
11: 106,888,135 (GRCm39) |
S2P |
probably benign |
Het |
| Lct |
A |
G |
1: 128,235,640 (GRCm39) |
S456P |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Lrrc7 |
T |
G |
3: 157,892,681 (GRCm39) |
I323L |
possibly damaging |
Het |
| Ly6g |
A |
G |
15: 75,030,482 (GRCm39) |
K77R |
probably benign |
Het |
| Maea |
T |
C |
5: 33,523,144 (GRCm39) |
|
probably null |
Het |
| Marco |
A |
T |
1: 120,404,474 (GRCm39) |
|
probably benign |
Het |
| Mcmbp |
G |
T |
7: 128,317,655 (GRCm39) |
|
probably benign |
Het |
| Mtcl3 |
A |
T |
10: 29,023,736 (GRCm39) |
N361I |
probably damaging |
Het |
| Mtr |
T |
A |
13: 12,208,619 (GRCm39) |
R1017W |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,386,308 (GRCm39) |
I1811N |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,462,740 (GRCm39) |
|
probably benign |
Het |
| Nlrp10 |
A |
G |
7: 108,524,595 (GRCm39) |
V295A |
probably damaging |
Het |
| Or10ak7 |
T |
C |
4: 118,791,707 (GRCm39) |
T111A |
probably benign |
Het |
| Or51ac3 |
A |
G |
7: 103,213,658 (GRCm39) |
V276A |
probably benign |
Het |
| Or5e1 |
A |
T |
7: 108,354,719 (GRCm39) |
I219F |
probably damaging |
Het |
| Pde4b |
A |
T |
4: 102,458,832 (GRCm39) |
Q496L |
probably damaging |
Het |
| Peg12 |
C |
A |
7: 62,113,324 (GRCm39) |
G258* |
probably null |
Het |
| Pigc |
A |
G |
1: 161,798,822 (GRCm39) |
Y268C |
probably benign |
Het |
| Pnisr |
G |
T |
4: 21,874,912 (GRCm39) |
|
probably null |
Het |
| Poteg |
T |
C |
8: 27,937,871 (GRCm39) |
F5S |
probably benign |
Het |
| Prss40 |
T |
A |
1: 34,595,178 (GRCm39) |
I101F |
probably benign |
Het |
| Ptges3l |
T |
A |
11: 101,312,731 (GRCm39) |
D113V |
possibly damaging |
Het |
| Raver2 |
T |
C |
4: 100,993,349 (GRCm39) |
S510P |
possibly damaging |
Het |
| Rgr |
A |
T |
14: 36,766,641 (GRCm39) |
C94* |
probably null |
Het |
| Sesn3 |
T |
A |
9: 14,227,520 (GRCm39) |
H168Q |
possibly damaging |
Het |
| Sox30 |
C |
A |
11: 45,908,098 (GRCm39) |
P755Q |
probably damaging |
Het |
| Stac3 |
T |
C |
10: 127,340,754 (GRCm39) |
F173S |
probably damaging |
Het |
| Synj2 |
C |
A |
17: 6,077,599 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
A |
T |
7: 65,297,244 (GRCm39) |
I120L |
probably benign |
Het |
| Tas2r124 |
A |
G |
6: 132,732,019 (GRCm39) |
I109M |
probably damaging |
Het |
| Tm4sf19 |
A |
T |
16: 32,226,781 (GRCm39) |
H190L |
probably damaging |
Het |
| Tmem143 |
T |
G |
7: 45,556,532 (GRCm39) |
V179G |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,195,339 (GRCm39) |
F1187S |
probably damaging |
Het |
| Ubtfl1 |
A |
G |
9: 18,321,209 (GRCm39) |
R246G |
possibly damaging |
Het |
| Zdhhc5 |
A |
G |
2: 84,532,733 (GRCm39) |
F57S |
probably damaging |
Het |
| Zfp40 |
A |
T |
17: 23,394,232 (GRCm39) |
M717K |
probably benign |
Het |
|
| Other mutations in Rp1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00494:Rp1l1
|
APN |
14 |
64,266,174 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02063:Rp1l1
|
APN |
14 |
64,266,985 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02132:Rp1l1
|
APN |
14 |
64,266,259 (GRCm39) |
missense |
probably benign |
|
|
IGL02430:Rp1l1
|
APN |
14 |
64,266,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02977:Rp1l1
|
APN |
14 |
64,265,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03213:Rp1l1
|
APN |
14 |
64,265,864 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03346:Rp1l1
|
APN |
14 |
64,266,889 (GRCm39) |
missense |
probably benign |
|
|
R0085:Rp1l1
|
UTSW |
14 |
64,259,744 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0347:Rp1l1
|
UTSW |
14 |
64,268,253 (GRCm39) |
nonsense |
probably null |
|
|
R0362:Rp1l1
|
UTSW |
14 |
64,268,515 (GRCm39) |
nonsense |
probably null |
|
|
R0369:Rp1l1
|
UTSW |
14 |
64,266,837 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0538:Rp1l1
|
UTSW |
14 |
64,259,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Rp1l1
|
UTSW |
14 |
64,269,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0780:Rp1l1
|
UTSW |
14 |
64,267,800 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0944:Rp1l1
|
UTSW |
14 |
64,269,681 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1051:Rp1l1
|
UTSW |
14 |
64,269,984 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1126:Rp1l1
|
UTSW |
14 |
64,267,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1483:Rp1l1
|
UTSW |
14 |
64,266,496 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1508:Rp1l1
|
UTSW |
14 |
64,268,341 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1553:Rp1l1
|
UTSW |
14 |
64,269,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1651:Rp1l1
|
UTSW |
14 |
64,268,442 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1682:Rp1l1
|
UTSW |
14 |
64,266,417 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1809:Rp1l1
|
UTSW |
14 |
64,265,415 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1885:Rp1l1
|
UTSW |
14 |
64,265,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1887:Rp1l1
|
UTSW |
14 |
64,265,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1898:Rp1l1
|
UTSW |
14 |
64,269,039 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1924:Rp1l1
|
UTSW |
14 |
64,268,992 (GRCm39) |
missense |
probably benign |
|
|
R1939:Rp1l1
|
UTSW |
14 |
64,267,042 (GRCm39) |
missense |
probably benign |
|
|
R1941:Rp1l1
|
UTSW |
14 |
64,259,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2129:Rp1l1
|
UTSW |
14 |
64,266,415 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2363:Rp1l1
|
UTSW |
14 |
64,267,447 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R3894:Rp1l1
|
UTSW |
14 |
64,266,756 (GRCm39) |
missense |
probably benign |
|
|
R3974:Rp1l1
|
UTSW |
14 |
64,267,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3975:Rp1l1
|
UTSW |
14 |
64,267,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3976:Rp1l1
|
UTSW |
14 |
64,267,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4072:Rp1l1
|
UTSW |
14 |
64,265,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4672:Rp1l1
|
UTSW |
14 |
64,268,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4673:Rp1l1
|
UTSW |
14 |
64,268,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Rp1l1
|
UTSW |
14 |
64,267,249 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4755:Rp1l1
|
UTSW |
14 |
64,267,519 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4877:Rp1l1
|
UTSW |
14 |
64,263,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4930:Rp1l1
|
UTSW |
14 |
64,269,655 (GRCm39) |
missense |
probably benign |
|
|
R5039:Rp1l1
|
UTSW |
14 |
64,268,805 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5106:Rp1l1
|
UTSW |
14 |
64,265,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5184:Rp1l1
|
UTSW |
14 |
64,267,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5215:Rp1l1
|
UTSW |
14 |
64,267,462 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5409:Rp1l1
|
UTSW |
14 |
64,268,070 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5575:Rp1l1
|
UTSW |
14 |
64,268,433 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5696:Rp1l1
|
UTSW |
14 |
64,267,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5739:Rp1l1
|
UTSW |
14 |
64,269,619 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5878:Rp1l1
|
UTSW |
14 |
64,266,355 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6133:Rp1l1
|
UTSW |
14 |
64,267,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6134:Rp1l1
|
UTSW |
14 |
64,267,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6135:Rp1l1
|
UTSW |
14 |
64,267,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6428:Rp1l1
|
UTSW |
14 |
64,269,838 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6594:Rp1l1
|
UTSW |
14 |
64,269,126 (GRCm39) |
nonsense |
probably null |
|
|
R6736:Rp1l1
|
UTSW |
14 |
64,267,173 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6800:Rp1l1
|
UTSW |
14 |
64,268,599 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6848:Rp1l1
|
UTSW |
14 |
64,265,667 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6878:Rp1l1
|
UTSW |
14 |
64,269,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6922:Rp1l1
|
UTSW |
14 |
64,267,834 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6980:Rp1l1
|
UTSW |
14 |
64,266,169 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7053:Rp1l1
|
UTSW |
14 |
64,268,958 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7151:Rp1l1
|
UTSW |
14 |
64,266,475 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7291:Rp1l1
|
UTSW |
14 |
64,269,747 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7335:Rp1l1
|
UTSW |
14 |
64,269,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7344:Rp1l1
|
UTSW |
14 |
64,267,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7470:Rp1l1
|
UTSW |
14 |
64,266,015 (GRCm39) |
missense |
probably benign |
|
|
R7570:Rp1l1
|
UTSW |
14 |
64,269,023 (GRCm39) |
nonsense |
probably null |
|
|
R7585:Rp1l1
|
UTSW |
14 |
64,267,588 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7591:Rp1l1
|
UTSW |
14 |
64,263,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7667:Rp1l1
|
UTSW |
14 |
64,267,252 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7862:Rp1l1
|
UTSW |
14 |
64,265,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7935:Rp1l1
|
UTSW |
14 |
64,268,674 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8256:Rp1l1
|
UTSW |
14 |
64,265,602 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8403:Rp1l1
|
UTSW |
14 |
64,266,258 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8709:Rp1l1
|
UTSW |
14 |
64,269,295 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8817:Rp1l1
|
UTSW |
14 |
64,268,085 (GRCm39) |
missense |
probably benign |
|
|
R8971:Rp1l1
|
UTSW |
14 |
64,259,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9380:Rp1l1
|
UTSW |
14 |
64,266,475 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9438:Rp1l1
|
UTSW |
14 |
64,265,574 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9501:Rp1l1
|
UTSW |
14 |
64,266,039 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9652:Rp1l1
|
UTSW |
14 |
64,269,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9683:Rp1l1
|
UTSW |
14 |
64,269,126 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0057:Rp1l1
|
UTSW |
14 |
64,267,489 (GRCm39) |
missense |
probably benign |
0.14 |
|
X0063:Rp1l1
|
UTSW |
14 |
64,266,672 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1088:Rp1l1
|
UTSW |
14 |
64,267,827 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Rp1l1
|
UTSW |
14 |
64,266,207 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1176:Rp1l1
|
UTSW |
14 |
64,266,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rp1l1
|
UTSW |
14 |
64,269,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGAGATGAAAGTCCGCTTCCAAC -3'
(R):5'- TGCAAGGTGTCACTGCCTGTATCG -3'
Sequencing Primer
(F):5'- TTCCAACTTCTGGGCGAG -3'
(R):5'- AGTGGCTCTTGCATCCAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation