Incidental Mutation 'R0347:Rp1l1'
ID |
38475 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rp1l1
|
Ensembl Gene |
ENSMUSG00000046049 |
Gene Name |
retinitis pigmentosa 1 homolog like 1 |
Synonyms |
Dcdc4, Rp1hl1 |
MMRRC Submission |
038554-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R0347 (G1)
|
Quality Score |
218 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
64229880-64270955 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 64268253 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 1280
(K1280*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058229]
|
AlphaFold |
Q8CGM2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000058229
AA Change: K1280*
|
SMART Domains |
Protein: ENSMUSP00000055449 Gene: ENSMUSG00000046049 AA Change: K1280*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.8%
|
Validation Efficiency |
100% (78/78) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,913,748 (GRCm39) |
E908G |
probably benign |
Het |
Abcb5 |
T |
A |
12: 118,928,986 (GRCm39) |
|
probably benign |
Het |
Adhfe1 |
T |
A |
1: 9,623,655 (GRCm39) |
F102Y |
probably benign |
Het |
Aff4 |
A |
G |
11: 53,290,915 (GRCm39) |
Y625C |
probably benign |
Het |
Alox5 |
T |
C |
6: 116,390,513 (GRCm39) |
E488G |
possibly damaging |
Het |
Ankmy2 |
T |
C |
12: 36,243,753 (GRCm39) |
C323R |
probably damaging |
Het |
Ankrd28 |
A |
G |
14: 31,423,979 (GRCm39) |
*1084R |
probably null |
Het |
Apol10a |
A |
T |
15: 77,372,891 (GRCm39) |
I176F |
probably damaging |
Het |
Arhgap26 |
C |
T |
18: 38,750,797 (GRCm39) |
T70I |
unknown |
Het |
Arid2 |
A |
G |
15: 96,268,833 (GRCm39) |
N982S |
probably benign |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Camsap3 |
A |
G |
8: 3,652,029 (GRCm39) |
D291G |
probably damaging |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Cdc20b |
G |
T |
13: 113,196,361 (GRCm39) |
G162V |
probably damaging |
Het |
Cep44 |
T |
G |
8: 56,998,510 (GRCm39) |
E56A |
probably damaging |
Het |
Cfap410 |
A |
T |
10: 77,820,256 (GRCm39) |
I209F |
probably damaging |
Het |
Cfap65 |
A |
G |
1: 74,965,603 (GRCm39) |
L469P |
probably damaging |
Het |
Cilp |
T |
A |
9: 65,187,435 (GRCm39) |
C1177S |
probably benign |
Het |
Ctnnbip1 |
C |
T |
4: 149,630,211 (GRCm39) |
P7S |
probably damaging |
Het |
Cyp11a1 |
T |
C |
9: 57,923,543 (GRCm39) |
|
probably benign |
Het |
Cyp3a11 |
C |
T |
5: 145,802,735 (GRCm39) |
V253M |
possibly damaging |
Het |
D630045J12Rik |
C |
A |
6: 38,158,327 (GRCm39) |
V1117L |
probably damaging |
Het |
Dnah7b |
T |
A |
1: 46,280,104 (GRCm39) |
S2678T |
probably damaging |
Het |
Dock1 |
T |
C |
7: 134,365,596 (GRCm39) |
I428T |
probably damaging |
Het |
Fam83f |
A |
G |
15: 80,556,458 (GRCm39) |
D114G |
probably damaging |
Het |
Flt3 |
T |
A |
5: 147,294,802 (GRCm39) |
N423I |
probably damaging |
Het |
Fnbp1l |
A |
T |
3: 122,383,824 (GRCm39) |
F31L |
probably damaging |
Het |
Glrx3 |
G |
A |
7: 137,039,430 (GRCm39) |
E10K |
unknown |
Het |
Gm12185 |
T |
C |
11: 48,806,009 (GRCm39) |
E394G |
probably benign |
Het |
Gpatch1 |
C |
T |
7: 34,997,056 (GRCm39) |
V381M |
probably benign |
Het |
Grm8 |
T |
C |
6: 27,981,221 (GRCm39) |
S230G |
probably benign |
Het |
Heyl |
A |
T |
4: 123,127,733 (GRCm39) |
D25V |
probably benign |
Het |
Junb |
G |
A |
8: 85,705,107 (GRCm39) |
|
probably benign |
Het |
Klhl29 |
C |
A |
12: 5,134,354 (GRCm39) |
V747F |
probably damaging |
Het |
Krt77 |
T |
C |
15: 101,768,304 (GRCm39) |
H569R |
unknown |
Het |
Ldhb |
T |
C |
6: 142,439,859 (GRCm39) |
N227S |
probably benign |
Het |
Megf6 |
A |
G |
4: 154,339,092 (GRCm39) |
D543G |
possibly damaging |
Het |
Mrps23 |
A |
T |
11: 88,101,519 (GRCm39) |
Q136L |
probably benign |
Het |
Myh2 |
C |
T |
11: 67,076,130 (GRCm39) |
|
probably benign |
Het |
Nadk2 |
T |
A |
15: 9,084,287 (GRCm39) |
D133E |
probably benign |
Het |
Neurod4 |
G |
A |
10: 130,106,980 (GRCm39) |
T98I |
probably damaging |
Het |
Nfatc2 |
G |
T |
2: 168,378,210 (GRCm39) |
T465K |
probably damaging |
Het |
Nipbl |
A |
G |
15: 8,380,216 (GRCm39) |
S859P |
probably benign |
Het |
Nipsnap3a |
T |
C |
4: 52,997,155 (GRCm39) |
|
probably benign |
Het |
Nlrp4c |
A |
G |
7: 6,069,415 (GRCm39) |
K439E |
possibly damaging |
Het |
Or10q3 |
A |
T |
19: 11,847,797 (GRCm39) |
L261H |
probably damaging |
Het |
Or1e32 |
C |
T |
11: 73,705,137 (GRCm39) |
G257D |
probably damaging |
Het |
Or2a20 |
T |
C |
6: 43,194,296 (GRCm39) |
F150L |
probably benign |
Het |
Pds5b |
T |
A |
5: 150,659,892 (GRCm39) |
|
probably benign |
Het |
Pira13 |
A |
T |
7: 3,825,873 (GRCm39) |
V332E |
probably damaging |
Het |
Plch1 |
A |
G |
3: 63,660,737 (GRCm39) |
M282T |
probably damaging |
Het |
Plch2 |
C |
A |
4: 155,071,178 (GRCm39) |
R1067L |
possibly damaging |
Het |
Polr1has |
T |
A |
17: 37,276,207 (GRCm39) |
M114K |
probably damaging |
Het |
Pou2f2 |
A |
C |
7: 24,797,126 (GRCm39) |
F206V |
probably damaging |
Het |
Prss50 |
A |
G |
9: 110,691,418 (GRCm39) |
I49V |
probably damaging |
Het |
Rexo5 |
T |
A |
7: 119,423,119 (GRCm39) |
|
probably null |
Het |
Rgl2 |
C |
T |
17: 34,151,712 (GRCm39) |
T252I |
probably damaging |
Het |
Rpl24 |
T |
A |
16: 55,790,540 (GRCm39) |
|
probably null |
Het |
Satb1 |
T |
A |
17: 52,046,934 (GRCm39) |
K763* |
probably null |
Het |
Scart2 |
T |
A |
7: 139,877,767 (GRCm39) |
H800Q |
probably damaging |
Het |
Sema6a |
T |
A |
18: 47,424,196 (GRCm39) |
R237S |
probably damaging |
Het |
Spg11 |
T |
C |
2: 121,927,850 (GRCm39) |
T645A |
probably damaging |
Het |
Srrt |
T |
A |
5: 137,297,938 (GRCm39) |
|
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,673,335 (GRCm39) |
V1480A |
probably benign |
Het |
Tbc1d2 |
T |
C |
4: 46,620,574 (GRCm39) |
D412G |
possibly damaging |
Het |
Tecrl |
T |
C |
5: 83,442,479 (GRCm39) |
E198G |
probably damaging |
Het |
Tigd4 |
A |
G |
3: 84,501,167 (GRCm39) |
D28G |
probably damaging |
Het |
Trp53bp2 |
T |
G |
1: 182,269,213 (GRCm39) |
L226V |
probably benign |
Het |
Ttll13 |
T |
C |
7: 79,910,253 (GRCm39) |
S799P |
possibly damaging |
Het |
Vps13c |
A |
T |
9: 67,817,515 (GRCm39) |
Q1062H |
possibly damaging |
Het |
Wnt10a |
T |
G |
1: 74,832,702 (GRCm39) |
H98Q |
probably damaging |
Het |
Zbtb47 |
C |
T |
9: 121,592,168 (GRCm39) |
P198S |
probably damaging |
Het |
Zfp959 |
T |
A |
17: 56,204,180 (GRCm39) |
Y69* |
probably null |
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 |
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 |
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'- GTGCCCTGTGTCATGGATAACACC -3'
(R):5'- TGAGTTGCTCTCGCTGAAATGCTG -3'
Sequencing Primer
(F):5'- GAACTAGTGGGTCATTCCACAGTC -3'
(R):5'- CTGAAATGCTGAGGGGACTCTG -3'
|
Posted On |
2013-05-23 |