Incidental Mutation 'R5141:Rpgrip1l'
ID |
396470 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpgrip1l
|
Ensembl Gene |
ENSMUSG00000033282 |
Gene Name |
Rpgrip1-like |
Synonyms |
Nphp8, 1700047E16Rik, Ftm, fantom |
MMRRC Submission |
042727-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5141 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
91943658-92039890 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 91987546 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 837
(Q837R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042702
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047783]
[ENSMUST00000139113]
[ENSMUST00000209616]
|
AlphaFold |
Q8CG73 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047783
AA Change: Q837R
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000042702 Gene: ENSMUSG00000033282 AA Change: Q837R
Domain | Start | End | E-Value | Type |
coiled coil region
|
56 |
143 |
N/A |
INTRINSIC |
coiled coil region
|
196 |
268 |
N/A |
INTRINSIC |
coiled coil region
|
299 |
371 |
N/A |
INTRINSIC |
coiled coil region
|
395 |
454 |
N/A |
INTRINSIC |
coiled coil region
|
520 |
556 |
N/A |
INTRINSIC |
Pfam:C2-C2_1
|
597 |
738 |
5.8e-61 |
PFAM |
low complexity region
|
769 |
778 |
N/A |
INTRINSIC |
C2
|
791 |
896 |
1.06e-5 |
SMART |
low complexity region
|
989 |
1000 |
N/A |
INTRINSIC |
low complexity region
|
1057 |
1080 |
N/A |
INTRINSIC |
Blast:C2
|
1098 |
1223 |
3e-20 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139113
|
SMART Domains |
Protein: ENSMUSP00000118230 Gene: ENSMUSG00000033282
Domain | Start | End | E-Value | Type |
coiled coil region
|
56 |
143 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209616
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210054
|
Meta Mutation Damage Score |
0.2485 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
96% (76/79) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016] PHENOTYPE: Mice homozygous for a knock-out allele do not survive after birth and show exencephaly, polydactyly, laterality defects, abnormal floor plate induction and neural tube patterning, cleft lip, micro- and anophthalmia, and variable cerebral, renal, and hepatic defects due to primary cilium dysfuntion. [provided by MGI curators]
|
Allele List at MGI |
All alleles(4) : Targeted(3) Gene trapped(1)
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
A |
G |
14: 68,810,577 (GRCm39) |
V193A |
probably benign |
Het |
Adamts18 |
T |
A |
8: 114,501,902 (GRCm39) |
T320S |
probably damaging |
Het |
Adamtsl1 |
G |
T |
4: 86,075,087 (GRCm39) |
M151I |
possibly damaging |
Het |
Adgrv1 |
A |
T |
13: 81,419,037 (GRCm39) |
V5986E |
probably damaging |
Het |
Aifm3 |
A |
G |
16: 17,317,586 (GRCm39) |
E69G |
probably damaging |
Het |
Akap13 |
C |
A |
7: 75,259,362 (GRCm39) |
T662K |
probably benign |
Het |
Alms1 |
A |
G |
6: 85,598,414 (GRCm39) |
D1080G |
probably benign |
Het |
Als2 |
T |
C |
1: 59,209,611 (GRCm39) |
E1457G |
possibly damaging |
Het |
Apobec4 |
A |
G |
1: 152,631,964 (GRCm39) |
|
probably benign |
Het |
Apoo-ps |
C |
T |
13: 107,550,895 (GRCm39) |
|
noncoding transcript |
Het |
Aspscr1 |
G |
A |
11: 120,580,003 (GRCm39) |
V181I |
probably benign |
Het |
Atrn |
T |
C |
2: 130,841,050 (GRCm39) |
|
probably benign |
Het |
C3 |
T |
A |
17: 57,526,570 (GRCm39) |
I804F |
probably damaging |
Het |
Cbfa2t3 |
C |
T |
8: 123,361,760 (GRCm39) |
G421R |
probably benign |
Het |
Chmp4c |
A |
G |
3: 10,432,213 (GRCm39) |
E41G |
probably damaging |
Het |
Clk4 |
T |
A |
11: 51,166,598 (GRCm39) |
F96L |
possibly damaging |
Het |
Ctsg |
G |
A |
14: 56,339,184 (GRCm39) |
R25* |
probably null |
Het |
Cul1 |
A |
G |
6: 47,497,773 (GRCm39) |
D618G |
probably benign |
Het |
Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
Dip2a |
G |
A |
10: 76,106,287 (GRCm39) |
T1326I |
probably damaging |
Het |
Etnk2 |
A |
G |
1: 133,296,600 (GRCm39) |
I210V |
probably benign |
Het |
Gm5773 |
T |
A |
3: 93,681,034 (GRCm39) |
D235E |
probably benign |
Het |
Gm7353 |
T |
C |
7: 3,161,001 (GRCm39) |
|
noncoding transcript |
Het |
Gpi1 |
G |
A |
7: 33,926,521 (GRCm39) |
|
probably benign |
Het |
Ing4 |
T |
C |
6: 125,016,837 (GRCm39) |
M5T |
probably benign |
Het |
Inpp4a |
A |
G |
1: 37,419,168 (GRCm39) |
I583V |
probably benign |
Het |
Isyna1 |
T |
C |
8: 71,047,543 (GRCm39) |
V64A |
probably damaging |
Het |
Katnal2 |
T |
A |
18: 77,085,337 (GRCm39) |
D310V |
probably damaging |
Het |
Kbtbd8 |
A |
G |
6: 95,098,820 (GRCm39) |
T126A |
probably damaging |
Het |
Kif13a |
T |
C |
13: 46,906,197 (GRCm39) |
D582G |
probably benign |
Het |
Lmf2 |
G |
A |
15: 89,235,810 (GRCm39) |
|
probably null |
Het |
Lrp2 |
T |
C |
2: 69,382,693 (GRCm39) |
|
probably null |
Het |
Lrp4 |
T |
C |
2: 91,309,023 (GRCm39) |
|
probably benign |
Het |
Lyzl1 |
A |
C |
18: 4,169,209 (GRCm39) |
D71A |
possibly damaging |
Het |
Mak |
C |
T |
13: 41,186,039 (GRCm39) |
C543Y |
possibly damaging |
Het |
Mapk8ip1 |
T |
C |
2: 92,217,110 (GRCm39) |
D404G |
probably damaging |
Het |
Mdga1 |
C |
T |
17: 30,071,467 (GRCm39) |
E385K |
probably benign |
Het |
Mst1r |
T |
A |
9: 107,789,440 (GRCm39) |
I573N |
probably damaging |
Het |
Muc5ac |
T |
A |
7: 141,368,479 (GRCm39) |
N2365K |
possibly damaging |
Het |
Ncan |
T |
C |
8: 70,565,487 (GRCm39) |
E179G |
probably damaging |
Het |
Nlgn2 |
C |
T |
11: 69,716,216 (GRCm39) |
R775H |
probably damaging |
Het |
Or10d5 |
T |
G |
9: 39,861,170 (GRCm39) |
K299T |
probably benign |
Het |
Or4c122 |
A |
C |
2: 89,079,473 (GRCm39) |
Y176* |
probably null |
Het |
Or8g20 |
A |
G |
9: 39,395,827 (GRCm39) |
F238L |
probably damaging |
Het |
Pcolce |
G |
T |
5: 137,604,012 (GRCm39) |
Q352K |
probably benign |
Het |
Peg3 |
G |
T |
7: 6,712,381 (GRCm39) |
T947N |
probably benign |
Het |
Pld3 |
C |
T |
7: 27,233,220 (GRCm39) |
D344N |
probably damaging |
Het |
Plec |
A |
C |
15: 76,074,733 (GRCm39) |
D411E |
probably damaging |
Het |
Pmp2 |
C |
T |
3: 10,247,474 (GRCm39) |
D72N |
probably benign |
Het |
Ptpn9 |
T |
C |
9: 56,943,960 (GRCm39) |
V278A |
possibly damaging |
Het |
Rbm33 |
A |
G |
5: 28,557,687 (GRCm39) |
H300R |
probably damaging |
Het |
Rwdd4a |
T |
C |
8: 48,003,709 (GRCm39) |
|
probably benign |
Het |
Sema6a |
T |
C |
18: 47,381,455 (GRCm39) |
T1048A |
probably damaging |
Het |
Senp1 |
G |
A |
15: 97,974,488 (GRCm39) |
A108V |
probably benign |
Het |
Serpine2 |
G |
T |
1: 79,780,580 (GRCm39) |
Q290K |
possibly damaging |
Het |
Sesn1 |
A |
G |
10: 41,687,097 (GRCm39) |
N27S |
probably benign |
Het |
Shroom1 |
T |
A |
11: 53,354,809 (GRCm39) |
L243* |
probably null |
Het |
Slc17a5 |
A |
G |
9: 78,448,270 (GRCm39) |
Y395H |
probably damaging |
Het |
Slc5a8 |
T |
C |
10: 88,755,422 (GRCm39) |
|
probably null |
Het |
Sptbn5 |
G |
A |
2: 119,892,212 (GRCm39) |
S1083F |
probably benign |
Het |
Stx4a |
T |
A |
7: 127,445,787 (GRCm39) |
V231E |
probably damaging |
Het |
Swt1 |
A |
T |
1: 151,287,145 (GRCm39) |
S116T |
probably benign |
Het |
Syt9 |
C |
T |
7: 107,103,426 (GRCm39) |
T408I |
probably damaging |
Het |
Tgm7 |
T |
C |
2: 120,931,480 (GRCm39) |
T228A |
probably benign |
Het |
Tmem115 |
A |
G |
9: 107,415,141 (GRCm39) |
D310G |
probably benign |
Het |
Trcg1 |
G |
A |
9: 57,148,587 (GRCm39) |
G53D |
probably damaging |
Het |
Tsfm |
T |
C |
10: 126,865,482 (GRCm39) |
K100E |
probably damaging |
Het |
Usp1 |
A |
G |
4: 98,822,446 (GRCm39) |
T587A |
probably damaging |
Het |
Vcpip1 |
G |
T |
1: 9,818,302 (GRCm39) |
A27E |
unknown |
Het |
Vmn2r49 |
T |
C |
7: 9,720,300 (GRCm39) |
N397S |
probably benign |
Het |
Vmn2r8 |
A |
G |
5: 108,956,572 (GRCm39) |
S17P |
probably damaging |
Het |
Vwa3b |
A |
G |
1: 37,226,102 (GRCm39) |
|
probably benign |
Het |
Ythdc2 |
T |
A |
18: 44,998,114 (GRCm39) |
S1094T |
probably benign |
Het |
Zbtb22 |
C |
G |
17: 34,137,610 (GRCm39) |
S585C |
possibly damaging |
Het |
Zhx2 |
A |
G |
15: 57,685,182 (GRCm39) |
T184A |
probably benign |
Het |
|
Other mutations in Rpgrip1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00419:Rpgrip1l
|
APN |
8 |
91,990,202 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL00932:Rpgrip1l
|
APN |
8 |
92,002,265 (GRCm39) |
missense |
probably benign |
0.33 |
IGL01113:Rpgrip1l
|
APN |
8 |
91,987,367 (GRCm39) |
intron |
probably benign |
|
IGL01151:Rpgrip1l
|
APN |
8 |
92,001,777 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01321:Rpgrip1l
|
APN |
8 |
91,987,501 (GRCm39) |
nonsense |
probably null |
|
IGL01384:Rpgrip1l
|
APN |
8 |
92,000,268 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01634:Rpgrip1l
|
APN |
8 |
91,979,172 (GRCm39) |
missense |
probably benign |
0.25 |
IGL01634:Rpgrip1l
|
APN |
8 |
91,979,171 (GRCm39) |
missense |
probably benign |
|
IGL01781:Rpgrip1l
|
APN |
8 |
91,996,846 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01784:Rpgrip1l
|
APN |
8 |
91,997,089 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL02034:Rpgrip1l
|
APN |
8 |
91,977,776 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02250:Rpgrip1l
|
APN |
8 |
91,959,489 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02285:Rpgrip1l
|
APN |
8 |
91,959,535 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02634:Rpgrip1l
|
APN |
8 |
91,951,972 (GRCm39) |
splice site |
probably benign |
|
IGL02736:Rpgrip1l
|
APN |
8 |
91,990,219 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02825:Rpgrip1l
|
APN |
8 |
92,031,433 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02962:Rpgrip1l
|
APN |
8 |
91,996,990 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03031:Rpgrip1l
|
APN |
8 |
91,987,411 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03184:Rpgrip1l
|
APN |
8 |
92,027,437 (GRCm39) |
missense |
probably damaging |
1.00 |
P0005:Rpgrip1l
|
UTSW |
8 |
92,025,853 (GRCm39) |
splice site |
probably benign |
|
R0118:Rpgrip1l
|
UTSW |
8 |
91,996,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R0490:Rpgrip1l
|
UTSW |
8 |
92,026,473 (GRCm39) |
splice site |
probably benign |
|
R0599:Rpgrip1l
|
UTSW |
8 |
92,031,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R1514:Rpgrip1l
|
UTSW |
8 |
91,987,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R1648:Rpgrip1l
|
UTSW |
8 |
91,979,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R1914:Rpgrip1l
|
UTSW |
8 |
91,959,552 (GRCm39) |
missense |
probably benign |
0.13 |
R1915:Rpgrip1l
|
UTSW |
8 |
91,959,552 (GRCm39) |
missense |
probably benign |
0.13 |
R2093:Rpgrip1l
|
UTSW |
8 |
91,996,760 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2225:Rpgrip1l
|
UTSW |
8 |
91,948,095 (GRCm39) |
missense |
probably benign |
0.45 |
R2504:Rpgrip1l
|
UTSW |
8 |
92,007,344 (GRCm39) |
critical splice donor site |
probably null |
|
R3859:Rpgrip1l
|
UTSW |
8 |
91,990,286 (GRCm39) |
missense |
probably benign |
0.00 |
R4118:Rpgrip1l
|
UTSW |
8 |
91,979,535 (GRCm39) |
missense |
probably benign |
|
R4801:Rpgrip1l
|
UTSW |
8 |
91,996,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R4802:Rpgrip1l
|
UTSW |
8 |
91,996,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R4921:Rpgrip1l
|
UTSW |
8 |
91,987,637 (GRCm39) |
missense |
probably benign |
0.05 |
R4976:Rpgrip1l
|
UTSW |
8 |
92,007,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R5092:Rpgrip1l
|
UTSW |
8 |
91,948,012 (GRCm39) |
nonsense |
probably null |
|
R5099:Rpgrip1l
|
UTSW |
8 |
91,975,350 (GRCm39) |
missense |
probably benign |
0.20 |
R5119:Rpgrip1l
|
UTSW |
8 |
92,007,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R5793:Rpgrip1l
|
UTSW |
8 |
91,987,400 (GRCm39) |
missense |
probably benign |
0.06 |
R5847:Rpgrip1l
|
UTSW |
8 |
92,031,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R5871:Rpgrip1l
|
UTSW |
8 |
91,948,014 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5916:Rpgrip1l
|
UTSW |
8 |
91,979,541 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6619:Rpgrip1l
|
UTSW |
8 |
91,959,499 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6654:Rpgrip1l
|
UTSW |
8 |
91,946,833 (GRCm39) |
missense |
probably benign |
0.36 |
R6956:Rpgrip1l
|
UTSW |
8 |
92,012,941 (GRCm39) |
splice site |
probably null |
|
R6984:Rpgrip1l
|
UTSW |
8 |
91,987,426 (GRCm39) |
missense |
probably benign |
0.03 |
R7064:Rpgrip1l
|
UTSW |
8 |
91,990,148 (GRCm39) |
nonsense |
probably null |
|
R7145:Rpgrip1l
|
UTSW |
8 |
91,959,434 (GRCm39) |
critical splice donor site |
probably null |
|
R7243:Rpgrip1l
|
UTSW |
8 |
91,996,751 (GRCm39) |
missense |
probably benign |
0.00 |
R7673:Rpgrip1l
|
UTSW |
8 |
92,027,415 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7796:Rpgrip1l
|
UTSW |
8 |
91,996,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R8684:Rpgrip1l
|
UTSW |
8 |
92,000,329 (GRCm39) |
missense |
probably benign |
0.00 |
R8769:Rpgrip1l
|
UTSW |
8 |
91,979,212 (GRCm39) |
splice site |
probably benign |
|
R8955:Rpgrip1l
|
UTSW |
8 |
92,007,456 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9006:Rpgrip1l
|
UTSW |
8 |
92,007,436 (GRCm39) |
missense |
probably benign |
|
R9085:Rpgrip1l
|
UTSW |
8 |
92,014,303 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9188:Rpgrip1l
|
UTSW |
8 |
92,031,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R9258:Rpgrip1l
|
UTSW |
8 |
91,987,614 (GRCm39) |
nonsense |
probably null |
|
R9268:Rpgrip1l
|
UTSW |
8 |
92,007,355 (GRCm39) |
missense |
probably benign |
|
R9366:Rpgrip1l
|
UTSW |
8 |
91,996,809 (GRCm39) |
nonsense |
probably null |
|
R9547:Rpgrip1l
|
UTSW |
8 |
91,977,873 (GRCm39) |
missense |
probably benign |
0.00 |
R9565:Rpgrip1l
|
UTSW |
8 |
92,031,516 (GRCm39) |
missense |
probably benign |
0.05 |
R9582:Rpgrip1l
|
UTSW |
8 |
91,996,886 (GRCm39) |
missense |
probably benign |
0.03 |
R9604:Rpgrip1l
|
UTSW |
8 |
92,031,433 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9614:Rpgrip1l
|
UTSW |
8 |
91,987,434 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9697:Rpgrip1l
|
UTSW |
8 |
91,987,391 (GRCm39) |
missense |
possibly damaging |
0.49 |
Z1088:Rpgrip1l
|
UTSW |
8 |
91,996,748 (GRCm39) |
missense |
possibly damaging |
0.89 |
Z1088:Rpgrip1l
|
UTSW |
8 |
91,987,603 (GRCm39) |
missense |
possibly damaging |
0.96 |
Z1088:Rpgrip1l
|
UTSW |
8 |
91,946,807 (GRCm39) |
makesense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTTACCTGAGATACACTTGTCATG -3'
(R):5'- TGTATGTTCTGCCAGTCGAGTC -3'
Sequencing Primer
(F):5'- CACTTGTCATGTGCCAGGGAAATC -3'
(R):5'- TTCTGCCAGTCGAGTCAGCAAG -3'
|
Posted On |
2016-06-21 |