Incidental Mutation 'R1651:Rp1l1'
| ID |
186418 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rp1l1
|
| Ensembl Gene |
ENSMUSG00000046049 |
| Gene Name |
retinitis pigmentosa 1 homolog like 1 |
| Synonyms |
Dcdc4, Rp1hl1 |
| MMRRC Submission |
039687-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R1651 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
64229880-64270955 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 64268442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 1343
(E1343K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058229]
|
| AlphaFold |
Q8CGM2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058229
AA Change: E1343K
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000055449
Gene: ENSMUSG00000046049
AA Change: E1343K
| 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 |
0.2664 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
97% (66/68) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
T |
A |
2: 150,690,341 (GRCm39) |
Q118L |
probably benign |
Het |
| Acss1 |
A |
T |
2: 150,480,357 (GRCm39) |
V238D |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,635,972 (GRCm39) |
I3512M |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,171,096 (GRCm39) |
Q1292R |
probably damaging |
Het |
| Bpnt2 |
A |
G |
4: 4,792,737 (GRCm39) |
F123L |
probably damaging |
Het |
| Caskin1 |
C |
T |
17: 24,721,186 (GRCm39) |
R509C |
possibly damaging |
Het |
| Cd47 |
T |
C |
16: 49,714,591 (GRCm39) |
V147A |
possibly damaging |
Het |
| Cdc20b |
T |
A |
13: 113,215,258 (GRCm39) |
Y275* |
probably null |
Het |
| Chd4 |
A |
G |
6: 125,100,547 (GRCm39) |
D1745G |
possibly damaging |
Het |
| Crmp1 |
T |
A |
5: 37,430,783 (GRCm39) |
S250T |
probably damaging |
Het |
| Crybg2 |
A |
G |
4: 133,802,214 (GRCm39) |
K1125E |
probably benign |
Het |
| Crybg2 |
C |
A |
4: 133,802,136 (GRCm39) |
P1099T |
possibly damaging |
Het |
| Csf1r |
T |
A |
18: 61,243,473 (GRCm39) |
I163N |
possibly damaging |
Het |
| Dicer1 |
T |
C |
12: 104,675,064 (GRCm39) |
T733A |
probably damaging |
Het |
| Edar |
A |
G |
10: 58,441,875 (GRCm39) |
V339A |
possibly damaging |
Het |
| Efcab3 |
A |
G |
11: 104,611,492 (GRCm39) |
R445G |
probably benign |
Het |
| Efcab6 |
A |
G |
15: 83,755,194 (GRCm39) |
I1374T |
possibly damaging |
Het |
| Erbb2 |
G |
A |
11: 98,324,283 (GRCm39) |
R757K |
probably damaging |
Het |
| Fam98a |
A |
G |
17: 75,854,710 (GRCm39) |
V33A |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,531,191 (GRCm39) |
|
probably null |
Het |
| Fcmr |
A |
G |
1: 130,805,988 (GRCm39) |
T315A |
probably benign |
Het |
| Gdf9 |
G |
A |
11: 53,324,576 (GRCm39) |
R115Q |
probably damaging |
Het |
| Gm22697+Rbm27 |
AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC |
AGGTCCCGGCCCAGGCCC |
18: 42,434,948 (GRCm39) |
|
probably benign |
Het |
| H2-M10.1 |
A |
G |
17: 36,636,648 (GRCm39) |
V52A |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,260,748 (GRCm39) |
C1582* |
probably null |
Het |
| Icam2 |
C |
T |
11: 106,268,782 (GRCm39) |
V229M |
probably damaging |
Het |
| Itga7 |
C |
T |
10: 128,784,693 (GRCm39) |
P735L |
probably benign |
Het |
| Kbtbd3 |
C |
A |
9: 4,330,589 (GRCm39) |
P321Q |
possibly damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,364,262 (GRCm39) |
T997S |
probably damaging |
Het |
| Kifc5b |
T |
C |
17: 27,144,504 (GRCm39) |
F541S |
probably damaging |
Het |
| Klhdc9 |
C |
A |
1: 171,188,016 (GRCm39) |
V72L |
probably benign |
Het |
| Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
| Lrrtm4 |
A |
G |
6: 79,999,511 (GRCm39) |
T308A |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,569,091 (GRCm39) |
E1210G |
unknown |
Het |
| Mocs3 |
A |
G |
2: 168,073,489 (GRCm39) |
Y312C |
probably damaging |
Het |
| Mrps7 |
G |
T |
11: 115,495,581 (GRCm39) |
E40* |
probably null |
Het |
| Msantd5f1 |
A |
T |
4: 73,605,621 (GRCm39) |
N344I |
possibly damaging |
Het |
| Msln |
T |
C |
17: 25,972,382 (GRCm39) |
H50R |
probably benign |
Het |
| Myb |
A |
G |
10: 21,002,097 (GRCm39) |
F748S |
probably damaging |
Het |
| Myo10 |
C |
A |
15: 25,742,455 (GRCm39) |
H590N |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,358,419 (GRCm39) |
E939G |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,239,278 (GRCm39) |
V107E |
probably damaging |
Het |
| Nrcam |
A |
T |
12: 44,623,462 (GRCm39) |
N1011I |
probably damaging |
Het |
| Or14c44 |
A |
G |
7: 86,057,078 (GRCm39) |
|
probably benign |
Het |
| Or1ak2 |
T |
C |
2: 36,827,335 (GRCm39) |
L68P |
probably damaging |
Het |
| Or4c118 |
A |
C |
2: 88,975,346 (GRCm39) |
V7G |
probably damaging |
Het |
| Pcgf6 |
A |
T |
19: 47,037,441 (GRCm39) |
C153S |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,817,434 (GRCm39) |
V81A |
probably benign |
Het |
| Ppp4r4 |
A |
G |
12: 103,550,331 (GRCm39) |
N36D |
probably benign |
Het |
| Prkch |
A |
G |
12: 73,805,775 (GRCm39) |
T517A |
possibly damaging |
Het |
| Rasal1 |
A |
T |
5: 120,790,910 (GRCm39) |
K33* |
probably null |
Het |
| Serpinb6e |
T |
C |
13: 34,020,406 (GRCm39) |
D234G |
probably benign |
Het |
| Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
| Smyd3 |
T |
G |
1: 178,871,441 (GRCm39) |
I313L |
probably benign |
Het |
| Tdrd9 |
C |
A |
12: 111,991,140 (GRCm39) |
D543E |
probably damaging |
Het |
| Tet1 |
A |
G |
10: 62,715,453 (GRCm39) |
L114P |
probably damaging |
Het |
| Tmprss11c |
G |
A |
5: 86,387,283 (GRCm39) |
P212S |
probably damaging |
Het |
| Tmx2 |
A |
T |
2: 84,506,461 (GRCm39) |
M77K |
probably damaging |
Het |
| Traf3 |
T |
G |
12: 111,228,470 (GRCm39) |
D560E |
probably damaging |
Het |
| Trappc12 |
C |
T |
12: 28,741,776 (GRCm39) |
M711I |
probably benign |
Het |
| Trim2 |
A |
G |
3: 84,074,957 (GRCm39) |
|
probably null |
Het |
| Vmn2r18 |
A |
G |
5: 151,485,464 (GRCm39) |
S677P |
probably damaging |
Het |
| Wdr7 |
T |
A |
18: 63,853,847 (GRCm39) |
L60* |
probably null |
Het |
| Wdr93 |
T |
C |
7: 79,399,830 (GRCm39) |
F140L |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,931,719 (GRCm39) |
T802A |
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 |
|
R1553:Rp1l1
|
UTSW |
14 |
64,269,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CTGGAAGGTGATGCACTGTCAGAAG -3'
(R):5'- AGCAGCTTGGACACCCAGATTG -3'
Sequencing Primer
(F):5'- AGGCTACAGGAAAATAGTGTCC -3'
(R):5'- ACACCCAGATTGGGTCAGG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation