Incidental Mutation 'R4877:Rp1l1'
| ID |
375012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rp1l1
|
| Ensembl Gene |
ENSMUSG00000046049 |
| Gene Name |
retinitis pigmentosa 1 homolog like 1 |
| Synonyms |
Dcdc4, Rp1hl1 |
| MMRRC Submission |
042486-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R4877 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
64229880-64270955 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64263620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 247
(R247G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058229]
|
| AlphaFold |
Q8CGM2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058229
AA Change: R247G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000055449
Gene: ENSMUSG00000046049
AA Change: R247G
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
100% (76/76) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,258,421 (GRCm39) |
Y475H |
probably damaging |
Het |
| Adamts12 |
G |
T |
15: 11,327,787 (GRCm39) |
G1388V |
probably damaging |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Arhgap26 |
T |
C |
18: 39,429,982 (GRCm39) |
|
probably null |
Het |
| Atp7b |
T |
A |
8: 22,518,617 (GRCm39) |
I74F |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,977,337 (GRCm39) |
Y1326H |
probably benign |
Het |
| Card11 |
T |
C |
5: 140,871,632 (GRCm39) |
S690G |
probably damaging |
Het |
| Cbx3 |
A |
G |
6: 51,459,540 (GRCm39) |
E169G |
possibly damaging |
Het |
| Cd28 |
A |
T |
1: 60,808,861 (GRCm39) |
M192L |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,871,219 (GRCm39) |
|
probably benign |
Het |
| Cyp2c69 |
C |
T |
19: 39,866,056 (GRCm39) |
C179Y |
probably damaging |
Het |
| Cyp7b1 |
A |
T |
3: 18,151,457 (GRCm39) |
V252E |
probably damaging |
Het |
| Dcp2 |
G |
T |
18: 44,550,659 (GRCm39) |
G378C |
probably benign |
Het |
| Dip2b |
A |
T |
15: 100,058,410 (GRCm39) |
I196L |
possibly damaging |
Het |
| Erbin |
G |
A |
13: 103,987,346 (GRCm39) |
P405S |
probably damaging |
Het |
| Etv1 |
A |
G |
12: 38,881,292 (GRCm39) |
|
probably null |
Het |
| F830104G03Rik |
T |
G |
3: 56,797,917 (GRCm39) |
K33T |
unknown |
Het |
| Fbln2 |
C |
A |
6: 91,210,477 (GRCm39) |
H140Q |
probably damaging |
Het |
| Fxr1 |
A |
G |
3: 34,101,847 (GRCm39) |
T109A |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 90,134,785 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9949 |
C |
T |
18: 62,317,140 (GRCm39) |
|
probably benign |
Het |
| Grin2d |
A |
G |
7: 45,504,039 (GRCm39) |
L604P |
probably damaging |
Het |
| Gstcd |
A |
T |
3: 132,711,314 (GRCm39) |
|
probably benign |
Het |
| Ifna16 |
A |
G |
4: 88,594,681 (GRCm39) |
V138A |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,226,703 (GRCm39) |
N1314I |
probably damaging |
Het |
| Kitl |
T |
C |
10: 99,916,728 (GRCm39) |
V177A |
probably damaging |
Het |
| L3mbtl1 |
A |
T |
2: 162,790,488 (GRCm39) |
Q185L |
probably damaging |
Het |
| Lhx9 |
T |
A |
1: 138,766,092 (GRCm39) |
N232I |
probably benign |
Het |
| Lnx1 |
T |
C |
5: 74,788,784 (GRCm39) |
R111G |
probably benign |
Het |
| Lrrc41 |
A |
G |
4: 115,936,602 (GRCm39) |
I72M |
probably damaging |
Het |
| Lrriq1 |
T |
A |
10: 103,069,899 (GRCm39) |
D39V |
possibly damaging |
Het |
| Lyrm7 |
A |
G |
11: 54,731,936 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
A |
13: 13,857,734 (GRCm39) |
Y2508N |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,687,328 (GRCm39) |
Y70F |
probably benign |
Het |
| Mc4r |
T |
C |
18: 66,992,409 (GRCm39) |
I235V |
probably benign |
Het |
| Med12l |
G |
A |
3: 59,152,214 (GRCm39) |
V1000M |
probably damaging |
Het |
| Morc2b |
T |
C |
17: 33,357,712 (GRCm39) |
H20R |
probably benign |
Het |
| Ms4a1 |
A |
T |
19: 11,231,857 (GRCm39) |
S173T |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,228,477 (GRCm39) |
D339A |
probably damaging |
Het |
| Nars1 |
A |
T |
18: 64,633,643 (GRCm39) |
Y542* |
probably null |
Het |
| Nectin2 |
G |
A |
7: 19,451,645 (GRCm39) |
T463I |
possibly damaging |
Het |
| Nrg4 |
A |
G |
9: 55,166,679 (GRCm39) |
F64L |
probably benign |
Het |
| Nrxn1 |
T |
A |
17: 91,395,605 (GRCm39) |
I184F |
probably benign |
Het |
| Nxph2 |
C |
T |
2: 23,289,846 (GRCm39) |
P66L |
probably benign |
Het |
| Or10ag2 |
C |
T |
2: 87,248,907 (GRCm39) |
Q170* |
probably null |
Het |
| Or2v1 |
C |
A |
11: 49,025,608 (GRCm39) |
F196L |
probably damaging |
Het |
| Pard3 |
A |
T |
8: 128,115,018 (GRCm39) |
T579S |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,457,295 (GRCm39) |
I48V |
possibly damaging |
Het |
| Paxbp1 |
T |
C |
16: 90,841,199 (GRCm39) |
|
probably benign |
Het |
| Pou2f3 |
A |
T |
9: 43,050,618 (GRCm39) |
N235K |
possibly damaging |
Het |
| Ppp2r2c |
A |
G |
5: 37,026,214 (GRCm39) |
D17G |
probably damaging |
Het |
| Rgs8 |
A |
G |
1: 153,568,633 (GRCm39) |
|
probably benign |
Het |
| Rnd3 |
A |
G |
2: 51,038,762 (GRCm39) |
V42A |
probably damaging |
Het |
| Sec31b |
A |
T |
19: 44,524,172 (GRCm39) |
V156D |
probably damaging |
Het |
| Slc22a2 |
T |
A |
17: 12,833,702 (GRCm39) |
Y461N |
possibly damaging |
Het |
| Spag6l |
T |
C |
16: 16,599,622 (GRCm39) |
K280R |
possibly damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,850,337 (GRCm39) |
L597P |
probably damaging |
Het |
| Srr |
G |
T |
11: 74,798,606 (GRCm39) |
|
probably benign |
Het |
| Sry |
C |
G |
Y: 2,662,864 (GRCm39) |
Q265H |
unknown |
Het |
| Tgif1 |
A |
C |
17: 71,156,700 (GRCm39) |
|
probably null |
Het |
| Tle3 |
A |
T |
9: 61,280,781 (GRCm39) |
|
probably benign |
Het |
| Tubgcp4 |
A |
G |
2: 121,020,343 (GRCm39) |
T439A |
probably benign |
Het |
| Twist1 |
C |
T |
12: 34,008,350 (GRCm39) |
T125M |
probably damaging |
Het |
| Unc13a |
T |
A |
8: 72,111,260 (GRCm39) |
D317V |
possibly damaging |
Het |
| Vmn1r227 |
T |
A |
17: 20,955,407 (GRCm39) |
|
noncoding transcript |
Het |
| Vps72 |
G |
T |
3: 95,025,498 (GRCm39) |
|
probably benign |
Het |
| Zfp184 |
T |
C |
13: 22,144,498 (GRCm39) |
S735P |
possibly damaging |
Het |
| Zfp42 |
A |
T |
8: 43,748,725 (GRCm39) |
C259S |
possibly damaging |
Het |
| Zmiz2 |
A |
G |
11: 6,353,251 (GRCm39) |
H678R |
probably 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 |
|
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'- CTAAGGAGATGGGTCTTCCTTCC -3'
(R):5'- TGCTCAGGTAAAGCAGACAG -3'
Sequencing Primer
(F):5'- TTCCTGGGCCTTCCGAAG -3'
(R):5'- CTCAGGTAAAGCAGACAGAAGGAG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation