Incidental Mutation 'R4673:Rp1l1'
ID |
348642 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rp1l1
|
Ensembl Gene |
ENSMUSG00000046049 |
Gene Name |
retinitis pigmentosa 1 homolog like 1 |
Synonyms |
Dcdc4, Rp1hl1 |
MMRRC Submission |
041928-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R4673 (G1)
|
Quality Score |
200 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
64229880-64270955 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 64268719 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 1435
(V1435G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058229]
|
AlphaFold |
Q8CGM2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058229
AA Change: V1435G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000055449 Gene: ENSMUSG00000046049 AA Change: V1435G
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
T |
C |
8: 25,374,471 (GRCm39) |
E507G |
probably damaging |
Het |
Adam39 |
C |
T |
8: 41,277,768 (GRCm39) |
T53I |
probably benign |
Het |
Adam4 |
A |
T |
12: 81,468,535 (GRCm39) |
S29T |
possibly damaging |
Het |
Adamdec1 |
C |
A |
14: 68,815,353 (GRCm39) |
E104* |
probably null |
Het |
Alas1 |
G |
T |
9: 106,113,676 (GRCm39) |
P523Q |
probably damaging |
Het |
Aldh3a1 |
A |
G |
11: 61,104,320 (GRCm39) |
D69G |
probably benign |
Het |
Arhgap29 |
T |
A |
3: 121,808,620 (GRCm39) |
V1266E |
probably damaging |
Het |
Bcdin3d |
T |
C |
15: 99,368,719 (GRCm39) |
D160G |
probably damaging |
Het |
Btaf1 |
T |
A |
19: 36,955,772 (GRCm39) |
F569I |
probably benign |
Het |
Cacna1b |
A |
G |
2: 24,521,956 (GRCm39) |
L1718S |
probably damaging |
Het |
Casd1 |
A |
G |
6: 4,629,975 (GRCm39) |
Y457C |
probably damaging |
Het |
Creb3 |
T |
C |
4: 43,563,192 (GRCm39) |
V97A |
probably benign |
Het |
Cux2 |
G |
T |
5: 122,025,539 (GRCm39) |
S43* |
probably null |
Het |
Fhip1a |
A |
T |
3: 85,638,020 (GRCm39) |
V93D |
probably damaging |
Het |
Fsbp |
T |
G |
4: 11,579,841 (GRCm39) |
N36K |
probably benign |
Het |
Gm11565 |
A |
G |
11: 99,806,040 (GRCm39) |
D144G |
probably benign |
Het |
Gpn3 |
A |
G |
5: 122,511,981 (GRCm39) |
Y19C |
probably damaging |
Het |
Gstz1 |
A |
T |
12: 87,208,837 (GRCm39) |
T148S |
probably benign |
Het |
Gtf3c5 |
A |
G |
2: 28,462,236 (GRCm39) |
I282T |
probably benign |
Het |
Hspa2 |
T |
A |
12: 76,452,514 (GRCm39) |
S403T |
possibly damaging |
Het |
Il27 |
G |
A |
7: 126,190,251 (GRCm39) |
T121I |
possibly damaging |
Het |
Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
Kctd1 |
T |
A |
18: 15,196,284 (GRCm39) |
|
probably benign |
Het |
Kynu |
A |
G |
2: 43,569,815 (GRCm39) |
T366A |
probably damaging |
Het |
Lama5 |
G |
A |
2: 179,841,059 (GRCm39) |
T507I |
probably damaging |
Het |
Myh11 |
C |
T |
16: 14,087,105 (GRCm39) |
V124M |
probably damaging |
Het |
Myh14 |
T |
A |
7: 44,273,754 (GRCm39) |
H1331L |
probably damaging |
Het |
Myh2 |
T |
A |
11: 67,079,303 (GRCm39) |
L957Q |
probably damaging |
Het |
Myh4 |
T |
C |
11: 67,137,227 (GRCm39) |
F483L |
probably benign |
Het |
Nbeal1 |
A |
C |
1: 60,368,549 (GRCm39) |
K2631N |
probably damaging |
Het |
Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
Ogg1 |
T |
C |
6: 113,304,268 (GRCm39) |
C28R |
probably damaging |
Het |
Or13c7c |
T |
C |
4: 43,836,430 (GRCm39) |
H20R |
probably benign |
Het |
Or5b24 |
G |
A |
19: 12,912,461 (GRCm39) |
A120T |
probably damaging |
Het |
Or5k17 |
C |
T |
16: 58,746,053 (GRCm39) |
V294I |
possibly damaging |
Het |
Or6e1 |
C |
T |
14: 54,519,789 (GRCm39) |
A188T |
possibly damaging |
Het |
Or7g35 |
A |
G |
9: 19,496,726 (GRCm39) |
K298E |
possibly damaging |
Het |
Parp6 |
G |
C |
9: 59,547,393 (GRCm39) |
R460P |
probably damaging |
Het |
Phf14 |
A |
G |
6: 11,992,056 (GRCm39) |
H744R |
probably damaging |
Het |
Pibf1 |
A |
G |
14: 99,370,787 (GRCm39) |
N263S |
possibly damaging |
Het |
Plcb4 |
A |
G |
2: 135,774,191 (GRCm39) |
T158A |
possibly damaging |
Het |
Plce1 |
T |
C |
19: 38,737,840 (GRCm39) |
S1615P |
possibly damaging |
Het |
Plxna3 |
T |
G |
X: 73,382,554 (GRCm39) |
|
probably null |
Het |
Rad54b |
T |
A |
4: 11,609,449 (GRCm39) |
H633Q |
probably benign |
Het |
Rgs22 |
T |
A |
15: 36,100,079 (GRCm39) |
Y212F |
probably benign |
Het |
Rnd3 |
G |
A |
2: 51,022,553 (GRCm39) |
A163V |
probably benign |
Het |
Rnf10 |
A |
T |
5: 115,389,148 (GRCm39) |
V315E |
probably damaging |
Het |
Robo2 |
C |
T |
16: 73,701,266 (GRCm39) |
|
probably null |
Het |
Scaf8 |
T |
A |
17: 3,248,260 (GRCm39) |
D1194E |
probably benign |
Het |
Septin12 |
T |
C |
16: 4,809,807 (GRCm39) |
T198A |
probably damaging |
Het |
Shisa2 |
A |
G |
14: 59,867,629 (GRCm39) |
T294A |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,018,628 (GRCm39) |
|
probably null |
Het |
Strbp |
A |
T |
2: 37,535,691 (GRCm39) |
S6T |
probably damaging |
Het |
Syf2 |
A |
G |
4: 134,661,804 (GRCm39) |
E56G |
probably damaging |
Het |
Thap4 |
T |
C |
1: 93,642,588 (GRCm39) |
|
probably benign |
Het |
Tnfaip3 |
T |
C |
10: 18,887,580 (GRCm39) |
|
probably benign |
Het |
Tnxb |
A |
G |
17: 34,891,514 (GRCm39) |
E619G |
probably damaging |
Het |
Tpr |
G |
A |
1: 150,299,318 (GRCm39) |
A1173T |
probably benign |
Het |
Tspan3 |
G |
A |
9: 56,043,980 (GRCm39) |
R240W |
probably damaging |
Het |
Tut7 |
G |
T |
13: 59,944,659 (GRCm39) |
T658K |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,138,027 (GRCm39) |
S1128L |
probably damaging |
Het |
Ucp1 |
T |
C |
8: 84,021,876 (GRCm39) |
V236A |
probably damaging |
Het |
Usp34 |
TCACCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCACCAC |
11: 23,314,480 (GRCm39) |
|
probably benign |
Het |
Zfp940 |
T |
C |
7: 29,544,863 (GRCm39) |
D348G |
probably benign |
Het |
Zpld2 |
G |
A |
4: 133,927,658 (GRCm39) |
A365V |
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 |
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 |
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'- ATCAAGGCCAGCTCAGGAAC -3'
(R):5'- TTTCACAGGGACAGAACTCATC -3'
Sequencing Primer
(F):5'- CCATGGCTCACAAGGGATCTCTG -3'
(R):5'- ACCTGACTTGGTCCCTAAGG -3'
|
Posted On |
2015-10-08 |