Incidental Mutation 'R7151:Rp1l1'
ID |
554154 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rp1l1
|
Ensembl Gene |
ENSMUSG00000046049 |
Gene Name |
retinitis pigmentosa 1 homolog like 1 |
Synonyms |
Dcdc4, Rp1hl1 |
MMRRC Submission |
045253-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R7151 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
64229880-64270955 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 64266475 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 687
(D687V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058229]
|
AlphaFold |
Q8CGM2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058229
AA Change: D687V
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000055449 Gene: ENSMUSG00000046049 AA Change: D687V
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6330409D20Rik |
T |
A |
2: 32,630,618 (GRCm39) |
Q52L |
unknown |
Het |
Acsl1 |
A |
G |
8: 46,966,634 (GRCm39) |
D202G |
probably damaging |
Het |
Adam3 |
A |
T |
8: 25,185,271 (GRCm39) |
C476S |
probably damaging |
Het |
Adam34 |
T |
A |
8: 44,104,499 (GRCm39) |
E382V |
probably benign |
Het |
Akap5 |
G |
A |
12: 76,375,023 (GRCm39) |
V152I |
probably benign |
Het |
Aldh5a1 |
C |
T |
13: 25,121,382 (GRCm39) |
W57* |
probably null |
Het |
Angptl2 |
C |
T |
2: 33,133,922 (GRCm39) |
Q415* |
probably null |
Het |
Bnc1 |
G |
T |
7: 81,623,055 (GRCm39) |
T724N |
possibly damaging |
Het |
Brca2 |
T |
C |
5: 150,464,901 (GRCm39) |
V1555A |
probably benign |
Het |
Btn1a1 |
T |
A |
13: 23,643,483 (GRCm39) |
D322V |
probably damaging |
Het |
Chsy3 |
T |
A |
18: 59,542,357 (GRCm39) |
D498E |
possibly damaging |
Het |
Ddx24 |
T |
C |
12: 103,390,347 (GRCm39) |
T215A |
probably benign |
Het |
Dhx57 |
A |
T |
17: 80,580,476 (GRCm39) |
V492E |
probably damaging |
Het |
Dnhd1 |
G |
A |
7: 105,359,234 (GRCm39) |
R3523Q |
probably benign |
Het |
Dock3 |
T |
A |
9: 106,841,916 (GRCm39) |
D971V |
possibly damaging |
Het |
Ercc8 |
T |
C |
13: 108,323,816 (GRCm39) |
|
probably null |
Het |
Erich5 |
T |
A |
15: 34,471,095 (GRCm39) |
L108Q |
probably damaging |
Het |
F5 |
A |
T |
1: 164,029,230 (GRCm39) |
Y1743F |
probably damaging |
Het |
Gale |
T |
C |
4: 135,694,503 (GRCm39) |
V243A |
probably damaging |
Het |
Gspt1 |
T |
A |
16: 11,071,692 (GRCm39) |
Q57L |
probably benign |
Het |
Gtf3a |
C |
A |
5: 146,888,085 (GRCm39) |
Q129K |
probably benign |
Het |
Heyl |
T |
C |
4: 123,140,254 (GRCm39) |
V271A |
probably benign |
Het |
Hsd17b4 |
T |
C |
18: 50,261,437 (GRCm39) |
F7L |
probably damaging |
Het |
Hspa12a |
T |
C |
19: 58,810,594 (GRCm39) |
T150A |
probably benign |
Het |
Ift140 |
T |
A |
17: 25,274,699 (GRCm39) |
D790E |
probably damaging |
Het |
Igkv4-69 |
T |
A |
6: 69,260,917 (GRCm39) |
Y70F |
probably damaging |
Het |
Il1rap |
T |
C |
16: 26,530,878 (GRCm39) |
Y405H |
probably damaging |
Het |
Insyn2a |
A |
C |
7: 134,520,374 (GRCm39) |
I52S |
probably damaging |
Het |
Irf2bpl |
G |
T |
12: 86,930,127 (GRCm39) |
P182Q |
probably benign |
Het |
Itm2b |
C |
A |
14: 73,605,829 (GRCm39) |
|
probably benign |
Het |
Kcnc2 |
T |
C |
10: 112,294,414 (GRCm39) |
V106A |
possibly damaging |
Het |
Krt87 |
C |
A |
15: 101,387,529 (GRCm39) |
D170Y |
probably damaging |
Het |
Lca5 |
T |
A |
9: 83,280,693 (GRCm39) |
Y369F |
probably benign |
Het |
Mgat5 |
T |
A |
1: 127,373,999 (GRCm39) |
D466E |
probably damaging |
Het |
Mier3 |
C |
T |
13: 111,851,302 (GRCm39) |
P428L |
probably benign |
Het |
Myo6 |
T |
C |
9: 80,152,418 (GRCm39) |
Y167H |
unknown |
Het |
Neu2 |
A |
G |
1: 87,524,297 (GRCm39) |
E94G |
probably benign |
Het |
Nlrp9a |
A |
T |
7: 26,256,672 (GRCm39) |
K97* |
probably null |
Het |
Npdc1 |
A |
G |
2: 25,299,120 (GRCm39) |
M306V |
probably damaging |
Het |
Odf2l |
A |
T |
3: 144,832,827 (GRCm39) |
N95I |
probably benign |
Het |
Or10j3 |
A |
G |
1: 173,031,633 (GRCm39) |
K237E |
probably damaging |
Het |
Or13d1 |
G |
T |
4: 52,970,665 (GRCm39) |
V15L |
probably benign |
Het |
Or5t16 |
A |
G |
2: 86,819,385 (GRCm39) |
V45A |
probably benign |
Het |
Or7g21 |
A |
G |
9: 19,033,037 (GRCm39) |
Y259C |
possibly damaging |
Het |
P2ry12 |
A |
G |
3: 59,125,127 (GRCm39) |
F183L |
probably benign |
Het |
Proser3 |
A |
G |
7: 30,239,749 (GRCm39) |
F452L |
possibly damaging |
Het |
Ptgfrn |
G |
T |
3: 100,987,511 (GRCm39) |
Y117* |
probably null |
Het |
Rab3gap2 |
G |
T |
1: 184,980,250 (GRCm39) |
V360F |
probably benign |
Het |
Rxfp2 |
T |
G |
5: 149,966,572 (GRCm39) |
N103K |
probably benign |
Het |
Scfd2 |
T |
A |
5: 74,558,326 (GRCm39) |
Q517L |
possibly damaging |
Het |
Scnn1b |
G |
A |
7: 121,517,109 (GRCm39) |
A582T |
probably damaging |
Het |
Serpinb6e |
T |
C |
13: 34,021,818 (GRCm39) |
E170G |
probably damaging |
Het |
Serpinb8 |
T |
A |
1: 107,533,527 (GRCm39) |
V194E |
probably damaging |
Het |
Sgcz |
T |
A |
8: 38,006,833 (GRCm39) |
H191L |
possibly damaging |
Het |
Sirt1 |
A |
T |
10: 63,159,775 (GRCm39) |
L435Q |
probably damaging |
Het |
Sorcs1 |
G |
A |
19: 50,301,420 (GRCm39) |
P315S |
probably damaging |
Het |
Spdef |
T |
A |
17: 27,939,134 (GRCm39) |
S71C |
possibly damaging |
Het |
Spta1 |
T |
A |
1: 174,025,317 (GRCm39) |
H727Q |
probably damaging |
Het |
Srsf1 |
C |
T |
11: 87,940,084 (GRCm39) |
Q199* |
probably null |
Het |
Stard9 |
A |
T |
2: 120,526,623 (GRCm39) |
D960V |
probably benign |
Het |
Tcp10c |
A |
T |
17: 13,576,166 (GRCm39) |
I49F |
possibly damaging |
Het |
Tgm2 |
T |
C |
2: 157,971,315 (GRCm39) |
N308S |
possibly damaging |
Het |
Tiam2 |
A |
G |
17: 3,498,660 (GRCm39) |
D812G |
probably benign |
Het |
Tph1 |
A |
T |
7: 46,311,541 (GRCm39) |
V67D |
possibly damaging |
Het |
Trps1 |
C |
T |
15: 50,685,793 (GRCm39) |
R794H |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,683,505 (GRCm39) |
A906T |
|
Het |
Vmn1r124 |
G |
A |
7: 20,994,184 (GRCm39) |
P120L |
probably benign |
Het |
Vmn2r92 |
A |
T |
17: 18,387,005 (GRCm39) |
T115S |
probably benign |
Het |
Wdr11 |
A |
G |
7: 129,208,376 (GRCm39) |
D377G |
probably damaging |
Het |
Wdr55 |
G |
T |
18: 36,895,989 (GRCm39) |
A251S |
possibly damaging |
Het |
Zbtb7b |
C |
T |
3: 89,288,209 (GRCm39) |
R203H |
probably benign |
Het |
Zfp109 |
A |
T |
7: 23,929,231 (GRCm39) |
H67Q |
probably benign |
Het |
Zfp462 |
G |
A |
4: 55,051,271 (GRCm39) |
C2248Y |
probably damaging |
Het |
Zyg11b |
T |
C |
4: 108,102,119 (GRCm39) |
H534R |
possibly damaging |
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 |
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 |
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'- CATTCTGGCTCTCAGGACACAC -3'
(R):5'- TGGCAAACACAGTCTGAGC -3'
Sequencing Primer
(F):5'- CTCTCAGGACACACAGAGAGATG -3'
(R):5'- ACAGTCTGAGCCACTCACGG -3'
|
Posted On |
2019-05-15 |