Incidental Mutation 'R9652:Rp1l1'
ID |
735404 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rp1l1
|
Ensembl Gene |
ENSMUSG00000046049 |
Gene Name |
retinitis pigmentosa 1 homolog like 1 |
Synonyms |
Dcdc4, Rp1hl1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R9652 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
64229880-64270955 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 64269714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1767
(S1767P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058229]
|
AlphaFold |
Q8CGM2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058229
AA Change: S1767P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000055449 Gene: ENSMUSG00000046049 AA Change: S1767P
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: 99.9%
- 3x: 99.8%
- 10x: 99.6%
- 20x: 99.1%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1l1 |
G |
A |
18: 61,876,432 (GRCm39) |
T395M |
probably damaging |
Het |
Akap8l |
T |
C |
17: 32,557,783 (GRCm39) |
N35D |
probably damaging |
Het |
Atr |
T |
A |
9: 95,756,887 (GRCm39) |
L922Q |
probably damaging |
Het |
B3gnt9 |
G |
T |
8: 105,981,129 (GRCm39) |
F86L |
probably damaging |
Het |
Bmp1 |
T |
C |
14: 70,715,360 (GRCm39) |
D925G |
probably damaging |
Het |
Camkmt |
A |
T |
17: 85,759,713 (GRCm39) |
R284S |
probably benign |
Het |
Cavin3 |
G |
T |
7: 105,131,304 (GRCm39) |
H21Q |
probably damaging |
Het |
Ccp110 |
A |
G |
7: 118,334,553 (GRCm39) |
H180R |
|
Het |
Cdh23 |
A |
T |
10: 60,167,135 (GRCm39) |
V1837E |
probably damaging |
Het |
Ces3b |
G |
T |
8: 105,812,257 (GRCm39) |
A169S |
probably damaging |
Het |
Chpt1 |
T |
C |
10: 88,325,499 (GRCm39) |
N122S |
probably benign |
Het |
Cramp1 |
C |
A |
17: 25,201,783 (GRCm39) |
K566N |
probably damaging |
Het |
Ctbp2 |
C |
G |
7: 132,615,933 (GRCm39) |
R334P |
probably damaging |
Het |
Cwh43 |
T |
C |
5: 73,572,340 (GRCm39) |
S193P |
probably benign |
Het |
Dcstamp |
A |
T |
15: 39,623,792 (GRCm39) |
D469V |
probably benign |
Het |
Dst |
T |
A |
1: 34,219,458 (GRCm39) |
I1966N |
probably benign |
Het |
Eif3i |
G |
T |
4: 129,489,094 (GRCm39) |
F121L |
probably benign |
Het |
Erbb2 |
T |
C |
11: 98,326,812 (GRCm39) |
S1074P |
probably damaging |
Het |
Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
Fbn2 |
A |
G |
18: 58,146,722 (GRCm39) |
|
probably null |
Het |
Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
Gm2a |
T |
C |
11: 54,999,764 (GRCm39) |
V95A |
probably benign |
Het |
Gp5 |
A |
C |
16: 30,128,393 (GRCm39) |
F94V |
probably damaging |
Het |
Gramd4 |
G |
A |
15: 86,016,160 (GRCm39) |
E504K |
probably damaging |
Het |
Gusb |
A |
G |
5: 130,026,652 (GRCm39) |
S450P |
probably damaging |
Het |
Htr5a |
A |
G |
5: 28,047,838 (GRCm39) |
N131S |
possibly damaging |
Het |
Itga2 |
G |
A |
13: 115,020,991 (GRCm39) |
P120L |
probably benign |
Het |
Itpkb |
G |
T |
1: 180,160,056 (GRCm39) |
E61* |
probably null |
Het |
Katnbl1 |
T |
A |
2: 112,239,497 (GRCm39) |
V232D |
probably damaging |
Het |
Kifap3 |
T |
C |
1: 163,689,657 (GRCm39) |
L547P |
probably damaging |
Het |
Krt6a |
C |
T |
15: 101,599,120 (GRCm39) |
V482M |
probably benign |
Het |
Lrfn5 |
T |
A |
12: 61,890,418 (GRCm39) |
V569D |
probably damaging |
Het |
Luzp2 |
A |
G |
7: 54,702,580 (GRCm39) |
T48A |
probably damaging |
Het |
Mical2 |
G |
T |
7: 111,945,996 (GRCm39) |
R986L |
probably damaging |
Het |
Mroh8 |
G |
A |
2: 157,094,970 (GRCm39) |
Q339* |
probably null |
Het |
Msln |
A |
T |
17: 25,968,042 (GRCm39) |
V541E |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,498,178 (GRCm39) |
M6590L |
probably benign |
Het |
Nhsl3 |
T |
C |
4: 129,117,962 (GRCm39) |
E279G |
possibly damaging |
Het |
Nisch |
A |
T |
14: 30,893,628 (GRCm39) |
V1315E |
probably damaging |
Het |
Nubp2 |
G |
A |
17: 25,103,382 (GRCm39) |
T165I |
probably damaging |
Het |
Oog3 |
T |
G |
4: 143,884,489 (GRCm39) |
R482S |
probably benign |
Het |
Or2a7 |
A |
G |
6: 43,150,991 (GRCm39) |
M24V |
probably benign |
Het |
Or56a42-ps1 |
A |
T |
7: 104,775,985 (GRCm39) |
N164K |
probably benign |
Het |
Or6c33 |
T |
C |
10: 129,853,809 (GRCm39) |
I193T |
possibly damaging |
Het |
Or7a41 |
T |
C |
10: 78,871,230 (GRCm39) |
I200T |
probably benign |
Het |
Or8k39 |
A |
T |
2: 86,563,636 (GRCm39) |
F107I |
probably damaging |
Het |
P3h4 |
A |
T |
11: 100,304,499 (GRCm39) |
C247* |
probably null |
Het |
Pakap |
G |
A |
4: 57,710,125 (GRCm39) |
A357T |
possibly damaging |
Het |
Plch2 |
T |
A |
4: 155,082,942 (GRCm39) |
M569L |
probably benign |
Het |
Plcl1 |
A |
G |
1: 55,735,450 (GRCm39) |
T264A |
probably benign |
Het |
Rad51ap1 |
G |
T |
6: 126,904,526 (GRCm39) |
N178K |
probably benign |
Het |
Rasa4 |
T |
C |
5: 136,130,494 (GRCm39) |
L340P |
probably damaging |
Het |
Rassf10 |
A |
G |
7: 112,554,784 (GRCm39) |
T462A |
probably benign |
Het |
Rlf |
G |
C |
4: 121,007,865 (GRCm39) |
L482V |
probably damaging |
Het |
Robo1 |
T |
G |
16: 72,821,330 (GRCm39) |
S1357A |
possibly damaging |
Het |
Rpl3l |
T |
A |
17: 24,947,328 (GRCm39) |
L14Q |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,635,047 (GRCm39) |
T2024S |
possibly damaging |
Het |
Sbf2 |
T |
C |
7: 110,040,702 (GRCm39) |
Q375R |
possibly damaging |
Het |
Sema6a |
T |
C |
18: 47,382,252 (GRCm39) |
Q765R |
probably damaging |
Het |
Senp6 |
T |
A |
9: 80,021,228 (GRCm39) |
Y303N |
probably damaging |
Het |
Sertad4 |
C |
T |
1: 192,528,836 (GRCm39) |
D327N |
probably damaging |
Het |
Slc22a15 |
T |
A |
3: 101,790,848 (GRCm39) |
Y219F |
possibly damaging |
Het |
Slco1b2 |
T |
G |
6: 141,594,358 (GRCm39) |
|
probably null |
Het |
Snrnp200 |
G |
T |
2: 127,067,959 (GRCm39) |
V819L |
probably damaging |
Het |
Ssb |
C |
A |
2: 69,700,784 (GRCm39) |
A288E |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,101,620 (GRCm39) |
H638R |
probably benign |
Het |
Tm7sf3 |
A |
G |
6: 146,527,698 (GRCm39) |
S43P |
probably benign |
Het |
Tmem200c |
A |
G |
17: 69,149,181 (GRCm39) |
H588R |
probably benign |
Het |
Tnpo3 |
G |
A |
6: 29,560,173 (GRCm39) |
R657* |
probably null |
Het |
Traf6 |
T |
C |
2: 101,518,927 (GRCm39) |
C139R |
probably damaging |
Het |
Txnrd1 |
C |
A |
10: 82,720,390 (GRCm39) |
N424K |
possibly damaging |
Het |
Ubqln3 |
T |
C |
7: 103,791,962 (GRCm39) |
I43V |
probably damaging |
Het |
Usp32 |
A |
G |
11: 84,921,317 (GRCm39) |
V699A |
probably damaging |
Het |
Vmn2r103 |
T |
C |
17: 20,014,027 (GRCm39) |
V273A |
probably benign |
Het |
Vmn2r8 |
A |
G |
5: 108,951,107 (GRCm39) |
S113P |
probably benign |
Het |
Wdr7 |
T |
A |
18: 63,860,826 (GRCm39) |
I161N |
probably damaging |
Het |
Zfp474 |
A |
T |
18: 52,772,015 (GRCm39) |
I223F |
probably damaging |
Het |
Zfp583 |
A |
G |
7: 6,320,328 (GRCm39) |
L228P |
probably damaging |
Het |
Zfyve27 |
A |
G |
19: 42,165,856 (GRCm39) |
T76A |
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 |
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 |
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'- AGCTTCCAGAGAAAGACAGC -3'
(R):5'- GTACAAGCCAAGCTTCCAGC -3'
Sequencing Primer
(F):5'- CTTCCAGAGAAAGACAGCAGGAG -3'
(R):5'- CCCTTTCCCTTGCTTTGGAAG -3'
|
Posted On |
2022-11-14 |