Incidental Mutation 'R1553:Rp1l1'
| ID |
170113 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rp1l1
|
| Ensembl Gene |
ENSMUSG00000046049 |
| Gene Name |
retinitis pigmentosa 1 homolog like 1 |
| Synonyms |
Dcdc4, Rp1hl1 |
| MMRRC Submission |
039592-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R1553 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
64229880-64270955 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64269343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1643
(E1643G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058229]
|
| AlphaFold |
Q8CGM2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058229
AA Change: E1643G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000055449
Gene: ENSMUSG00000046049
AA Change: E1643G
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
| Validation Efficiency |
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
G |
T |
5: 24,613,748 (GRCm39) |
A649S |
probably damaging |
Het |
| Adam6a |
T |
A |
12: 113,508,835 (GRCm39) |
C403S |
probably damaging |
Het |
| Adgrg3 |
T |
C |
8: 95,766,896 (GRCm39) |
F417S |
possibly damaging |
Het |
| Ago1 |
T |
C |
4: 126,334,194 (GRCm39) |
E439G |
probably damaging |
Het |
| Alox15 |
A |
G |
11: 70,240,458 (GRCm39) |
V241A |
possibly damaging |
Het |
| Arhgap6 |
A |
G |
X: 168,048,480 (GRCm39) |
H566R |
probably damaging |
Het |
| Asap1 |
A |
T |
15: 64,024,701 (GRCm39) |
F345I |
probably benign |
Het |
| Atp1b2 |
A |
G |
11: 69,493,678 (GRCm39) |
Y134H |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,368,376 (GRCm39) |
T199M |
probably damaging |
Het |
| Calb1 |
A |
T |
4: 15,895,656 (GRCm39) |
S115C |
probably damaging |
Het |
| Ccdc68 |
A |
T |
18: 70,073,192 (GRCm39) |
I47F |
probably damaging |
Het |
| Cdc42bpa |
A |
T |
1: 179,921,540 (GRCm39) |
N560I |
probably benign |
Het |
| Cdhr3 |
T |
C |
12: 33,092,370 (GRCm39) |
D747G |
probably benign |
Het |
| Cdk5rap1 |
T |
G |
2: 154,194,171 (GRCm39) |
N378T |
probably damaging |
Het |
| Chil4 |
T |
G |
3: 106,111,006 (GRCm39) |
N296T |
probably benign |
Het |
| Cryaa |
G |
A |
17: 31,898,533 (GRCm39) |
V87I |
probably damaging |
Het |
| Csk |
G |
A |
9: 57,538,225 (GRCm39) |
L28F |
probably damaging |
Het |
| Cspp1 |
A |
G |
1: 10,156,122 (GRCm39) |
N444D |
possibly damaging |
Het |
| Cyp2j8 |
A |
G |
4: 96,363,794 (GRCm39) |
Y290H |
probably benign |
Het |
| Eps8l1 |
A |
T |
7: 4,480,448 (GRCm39) |
D563V |
probably damaging |
Het |
| Fam111a |
A |
T |
19: 12,564,682 (GRCm39) |
S144C |
possibly damaging |
Het |
| Fam135a |
A |
T |
1: 24,060,951 (GRCm39) |
S1145R |
probably damaging |
Het |
| Fpr2 |
T |
A |
17: 18,113,856 (GRCm39) |
V284D |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,048,340 (GRCm39) |
|
probably null |
Het |
| Gatd1 |
T |
C |
7: 140,989,806 (GRCm39) |
T135A |
probably benign |
Het |
| Gdf3 |
A |
G |
6: 122,586,724 (GRCm39) |
S68P |
probably benign |
Het |
| Gm6871 |
T |
C |
7: 41,195,822 (GRCm39) |
H305R |
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,890,756 (GRCm39) |
S917G |
probably damaging |
Het |
| Hdac10 |
T |
A |
15: 89,009,718 (GRCm39) |
E388V |
possibly damaging |
Het |
| Hectd1 |
T |
C |
12: 51,820,661 (GRCm39) |
N1176S |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,487,322 (GRCm39) |
D3439G |
probably benign |
Het |
| Kcna4 |
T |
C |
2: 107,127,032 (GRCm39) |
Y589H |
probably benign |
Het |
| Kcnk5 |
A |
T |
14: 20,192,462 (GRCm39) |
L233Q |
probably damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,790,397 (GRCm39) |
I453T |
probably damaging |
Het |
| Kifc3 |
A |
G |
8: 95,833,170 (GRCm39) |
I440T |
possibly damaging |
Het |
| Krt10 |
C |
A |
11: 99,276,806 (GRCm39) |
G40* |
probably null |
Het |
| Lce1i |
A |
T |
3: 92,685,102 (GRCm39) |
C25S |
unknown |
Het |
| Met |
A |
G |
6: 17,491,460 (GRCm39) |
N74S |
probably benign |
Het |
| Naa35 |
G |
A |
13: 59,766,093 (GRCm39) |
|
probably null |
Het |
| Naalad2 |
T |
C |
9: 18,289,965 (GRCm39) |
N221S |
probably benign |
Het |
| Nolc1 |
AGCG |
AGCGGCG |
19: 46,069,814 (GRCm39) |
|
probably benign |
Het |
| Nsmf |
T |
C |
2: 24,950,271 (GRCm39) |
V181A |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,957,848 (GRCm39) |
S393T |
probably benign |
Het |
| Or12j3 |
T |
A |
7: 139,952,951 (GRCm39) |
T191S |
probably damaging |
Het |
| Or2d3c |
A |
T |
7: 106,526,201 (GRCm39) |
V155E |
possibly damaging |
Het |
| Or51a6 |
T |
A |
7: 102,604,425 (GRCm39) |
I128L |
possibly damaging |
Het |
| Papola |
T |
A |
12: 105,786,669 (GRCm39) |
S453R |
probably benign |
Het |
| Paqr9 |
A |
G |
9: 95,442,262 (GRCm39) |
N84S |
probably damaging |
Het |
| Pde5a |
T |
C |
3: 122,572,585 (GRCm39) |
V290A |
probably benign |
Het |
| Prf1 |
T |
C |
10: 61,138,948 (GRCm39) |
V302A |
probably damaging |
Het |
| Psg18 |
T |
C |
7: 18,087,406 (GRCm39) |
Y84C |
probably benign |
Het |
| Rasgrf2 |
C |
T |
13: 92,038,783 (GRCm39) |
R1021H |
probably damaging |
Het |
| Rnf114 |
G |
T |
2: 167,354,522 (GRCm39) |
R201L |
possibly damaging |
Het |
| Scg3 |
T |
A |
9: 75,576,586 (GRCm39) |
E263V |
probably null |
Het |
| Scn2a |
C |
T |
2: 65,544,180 (GRCm39) |
R854* |
probably null |
Het |
| Setdb2 |
T |
C |
14: 59,654,934 (GRCm39) |
K319E |
probably benign |
Het |
| Stub1 |
A |
T |
17: 26,051,097 (GRCm39) |
V95E |
probably damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,471 (GRCm39) |
N96Y |
probably damaging |
Het |
| Tecta |
T |
A |
9: 42,259,482 (GRCm39) |
D1467V |
probably damaging |
Het |
| Tenm3 |
T |
A |
8: 48,689,456 (GRCm39) |
T2044S |
probably damaging |
Het |
| Tlr2 |
T |
A |
3: 83,744,770 (GRCm39) |
M438L |
probably benign |
Het |
| Tmem179 |
T |
C |
12: 112,471,094 (GRCm39) |
Y106C |
probably benign |
Het |
| Tspan7 |
A |
G |
X: 10,451,854 (GRCm39) |
H187R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,757,619 (GRCm39) |
D3332G |
probably damaging |
Het |
| Upp2 |
T |
C |
2: 58,680,152 (GRCm39) |
F326S |
probably damaging |
Het |
| Usp2 |
T |
A |
9: 44,003,452 (GRCm39) |
D224E |
probably damaging |
Het |
| Vmn1r5 |
T |
A |
6: 56,962,483 (GRCm39) |
F53I |
probably benign |
Het |
| Wapl |
T |
A |
14: 34,451,147 (GRCm39) |
L727H |
probably damaging |
Het |
| Wipf1 |
T |
C |
2: 73,267,870 (GRCm39) |
D176G |
possibly damaging |
Het |
| Xpnpep1 |
G |
T |
19: 52,994,769 (GRCm39) |
D243E |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,974,744 (GRCm39) |
I429F |
possibly damaging |
Het |
| Zfyve26 |
G |
A |
12: 79,334,535 (GRCm39) |
P161L |
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 |
|
R1450:Rp1l1
|
UTSW |
14 |
64,265,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- TCCCAAAGGATGCTGCAACAGTC -3'
(R):5'- CCTGTCTTGCTGGAGCCTCTAAAG -3'
Sequencing Primer
(F):5'- ATGCTGCAACAGTCTCTGG -3'
(R):5'- TGGAGCCTCTAAAGTGCCTC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation