Incidental Mutation 'R8817:Rp1l1'
ID |
672840 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rp1l1
|
Ensembl Gene |
ENSMUSG00000046049 |
Gene Name |
retinitis pigmentosa 1 homolog like 1 |
Synonyms |
Dcdc4, Rp1hl1 |
MMRRC Submission |
068727-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R8817 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
64229880-64270955 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 64268085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 1224
(R1224W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058229]
|
AlphaFold |
Q8CGM2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058229
AA Change: R1224W
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000055449 Gene: ENSMUSG00000046049 AA Change: R1224W
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 |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
99% (77/78) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
A |
G |
4: 144,400,361 (GRCm39) |
V139A |
probably benign |
Het |
Aass |
A |
T |
6: 23,097,195 (GRCm39) |
Y41* |
probably null |
Het |
AI429214 |
G |
A |
8: 37,461,268 (GRCm39) |
V139I |
probably benign |
Het |
Cacna1a |
G |
A |
8: 85,365,426 (GRCm39) |
A2190T |
probably benign |
Het |
Cstpp1 |
A |
G |
2: 91,107,343 (GRCm39) |
Y320H |
probably benign |
Het |
Cutc |
T |
C |
19: 43,744,113 (GRCm39) |
V38A |
probably benign |
Het |
Cxcl10 |
G |
T |
5: 92,495,230 (GRCm39) |
P98H |
probably damaging |
Het |
Dop1a |
T |
C |
9: 86,396,003 (GRCm39) |
S822P |
possibly damaging |
Het |
Dusp19 |
T |
C |
2: 80,454,631 (GRCm39) |
L117P |
probably damaging |
Het |
Emc3 |
A |
G |
6: 113,492,868 (GRCm39) |
F261S |
probably damaging |
Het |
Ephx2 |
T |
C |
14: 66,344,725 (GRCm39) |
T200A |
probably benign |
Het |
Eri1 |
A |
C |
8: 35,945,792 (GRCm39) |
D164E |
probably damaging |
Het |
Ethe1 |
T |
C |
7: 24,305,727 (GRCm39) |
I158T |
probably damaging |
Het |
Fancm |
C |
T |
12: 65,167,331 (GRCm39) |
R1547C |
probably damaging |
Het |
Fer1l4 |
T |
A |
2: 155,890,143 (GRCm39) |
T261S |
probably damaging |
Het |
Fyb2 |
A |
G |
4: 104,802,652 (GRCm39) |
R185G |
probably benign |
Het |
Gabrp |
A |
T |
11: 33,504,464 (GRCm39) |
S284T |
possibly damaging |
Het |
Gga2 |
G |
A |
7: 121,590,845 (GRCm39) |
R488* |
probably null |
Het |
Gm9758 |
A |
G |
5: 14,962,230 (GRCm39) |
L126S |
probably damaging |
Het |
Gse1 |
T |
C |
8: 121,294,542 (GRCm39) |
F290L |
probably damaging |
Het |
Hdgfl1 |
A |
G |
13: 26,954,068 (GRCm39) |
S2P |
probably damaging |
Het |
Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
Huwe1 |
A |
G |
X: 150,669,993 (GRCm39) |
K1482R |
probably benign |
Het |
Lama2 |
A |
T |
10: 27,063,869 (GRCm39) |
W1307R |
probably damaging |
Het |
Map3k6 |
A |
G |
4: 132,974,071 (GRCm39) |
K517E |
probably benign |
Het |
Mbl1 |
T |
A |
14: 40,875,555 (GRCm39) |
L3Q |
unknown |
Het |
Mepe |
G |
T |
5: 104,485,151 (GRCm39) |
R97L |
probably benign |
Het |
Minpp1 |
T |
A |
19: 32,463,747 (GRCm39) |
M136K |
possibly damaging |
Het |
Mrgprb1 |
T |
A |
7: 48,097,070 (GRCm39) |
I281F |
probably benign |
Het |
Naip5 |
T |
C |
13: 100,349,207 (GRCm39) |
I1374V |
probably benign |
Het |
Or14j8 |
A |
G |
17: 38,263,273 (GRCm39) |
I214T |
probably damaging |
Het |
Or4c12 |
A |
G |
2: 89,773,790 (GRCm39) |
L223S |
probably damaging |
Het |
Or52e19b |
A |
T |
7: 103,032,825 (GRCm39) |
I128N |
probably damaging |
Het |
Or8g34 |
C |
T |
9: 39,373,387 (GRCm39) |
S217F |
probably damaging |
Het |
Or8g37 |
G |
T |
9: 39,730,939 (GRCm39) |
M1I |
probably null |
Het |
Pamr1 |
T |
G |
2: 102,464,766 (GRCm39) |
V305G |
probably benign |
Het |
Pcbp3 |
T |
C |
10: 76,625,670 (GRCm39) |
T125A |
probably benign |
Het |
Peli2 |
G |
A |
14: 48,490,130 (GRCm39) |
E201K |
possibly damaging |
Het |
Pitpnm3 |
T |
C |
11: 71,941,894 (GRCm39) |
E971G |
possibly damaging |
Het |
Pkdrej |
A |
G |
15: 85,702,774 (GRCm39) |
V1054A |
probably damaging |
Het |
Plcb1 |
G |
A |
2: 135,175,429 (GRCm39) |
|
probably benign |
Het |
Prpf40a |
T |
C |
2: 53,042,971 (GRCm39) |
K480E |
probably damaging |
Het |
Psd3 |
A |
G |
8: 68,413,135 (GRCm39) |
I465T |
possibly damaging |
Het |
Pskh1 |
C |
T |
8: 106,656,352 (GRCm39) |
R343W |
probably damaging |
Het |
Ptprz1 |
A |
T |
6: 23,007,371 (GRCm39) |
T1645S |
probably damaging |
Het |
Rasal1 |
T |
C |
5: 120,808,416 (GRCm39) |
F483L |
probably damaging |
Het |
Rbm28 |
T |
C |
6: 29,155,023 (GRCm39) |
|
probably benign |
Het |
Recql |
G |
A |
6: 142,304,612 (GRCm39) |
|
probably benign |
Het |
Rnf40 |
T |
C |
7: 127,196,332 (GRCm39) |
V760A |
probably damaging |
Het |
Rpgrip1 |
T |
C |
14: 52,378,056 (GRCm39) |
V468A |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,750,509 (GRCm39) |
I1921F |
possibly damaging |
Het |
Sirpa |
G |
A |
2: 129,435,558 (GRCm39) |
G9D |
unknown |
Het |
Slc28a2b |
A |
T |
2: 122,348,988 (GRCm39) |
T305S |
possibly damaging |
Het |
Slc40a1 |
A |
C |
1: 45,948,699 (GRCm39) |
V527G |
probably damaging |
Het |
Smarca4 |
T |
A |
9: 21,547,497 (GRCm39) |
M260K |
probably benign |
Het |
Smarca5 |
A |
T |
8: 81,460,379 (GRCm39) |
M119K |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,758,887 (GRCm39) |
V2206A |
unknown |
Het |
Sp4 |
A |
T |
12: 118,225,624 (GRCm39) |
V580D |
possibly damaging |
Het |
Spata31d1c |
G |
A |
13: 65,182,376 (GRCm39) |
C75Y |
probably damaging |
Het |
Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
Srcap |
T |
C |
7: 127,152,395 (GRCm39) |
S2220P |
probably benign |
Het |
Stra6 |
G |
T |
9: 58,059,265 (GRCm39) |
V543F |
possibly damaging |
Het |
Tenm4 |
T |
A |
7: 96,523,335 (GRCm39) |
F1626I |
probably benign |
Het |
Tjp1 |
T |
C |
7: 64,952,810 (GRCm39) |
N1508S |
probably benign |
Het |
Trrap |
T |
A |
5: 144,782,348 (GRCm39) |
L3298Q |
probably damaging |
Het |
Tsn |
A |
G |
1: 118,232,470 (GRCm39) |
L135P |
probably damaging |
Het |
Ttl |
A |
T |
2: 128,910,778 (GRCm39) |
H54L |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,660,251 (GRCm39) |
T12110S |
unknown |
Het |
Uba6 |
T |
C |
5: 86,296,772 (GRCm39) |
I306V |
probably null |
Het |
Ubap2 |
A |
G |
4: 41,223,425 (GRCm39) |
S204P |
possibly damaging |
Het |
Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
Ush2a |
A |
T |
1: 187,995,231 (GRCm39) |
M1L |
probably benign |
Het |
Vmn1r159 |
C |
A |
7: 22,542,559 (GRCm39) |
V158F |
probably benign |
Het |
Wif1 |
A |
G |
10: 120,932,621 (GRCm39) |
H333R |
possibly damaging |
Het |
Zfp282 |
T |
A |
6: 47,881,760 (GRCm39) |
N482K |
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 |
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 |
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'- TAGGGACTGAGGACTTCACAC -3'
(R):5'- TCCTGACTGCAGACCCTAAC -3'
Sequencing Primer
(F):5'- TGAGGACTTCACACCCACCTC -3'
(R):5'- GACTGCAGACCCTAACCCCTTC -3'
|
Posted On |
2021-04-30 |