Incidental Mutation 'R8769:Rpgrip1l'
ID |
686572 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpgrip1l
|
Ensembl Gene |
ENSMUSG00000033282 |
Gene Name |
Rpgrip1-like |
Synonyms |
Nphp8, 1700047E16Rik, Ftm, fantom |
MMRRC Submission |
068624-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8769 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
91943658-92039890 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 91979212 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147300
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047783]
[ENSMUST00000139113]
[ENSMUST00000209616]
|
AlphaFold |
Q8CG73 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047783
|
SMART Domains |
Protein: ENSMUSP00000042702 Gene: ENSMUSG00000033282
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
97% (57/59) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
T |
A |
2: 68,446,589 (GRCm39) |
N289K |
unknown |
Het |
Adgrl2 |
T |
C |
3: 148,522,917 (GRCm39) |
I436V |
|
Het |
Agbl3 |
C |
T |
6: 34,834,549 (GRCm39) |
S911L |
probably damaging |
Het |
Ampd2 |
C |
T |
3: 107,982,613 (GRCm39) |
M714I |
probably damaging |
Het |
Asb6 |
T |
C |
2: 30,718,143 (GRCm39) |
D19G |
possibly damaging |
Het |
Atosa |
C |
A |
9: 74,933,107 (GRCm39) |
L1025I |
probably damaging |
Het |
Bbx |
T |
C |
16: 50,061,227 (GRCm39) |
Q298R |
probably damaging |
Het |
Bcl9l |
T |
A |
9: 44,420,263 (GRCm39) |
M1223K |
probably benign |
Het |
Ccr3 |
T |
A |
9: 123,829,096 (GRCm39) |
F144I |
possibly damaging |
Het |
Cfap74 |
T |
A |
4: 155,503,105 (GRCm39) |
F32L |
|
Het |
Clhc1 |
G |
A |
11: 29,511,401 (GRCm39) |
E293K |
probably damaging |
Het |
Col22a1 |
A |
T |
15: 71,878,571 (GRCm39) |
D195E |
probably benign |
Het |
Cttnbp2 |
T |
A |
6: 18,376,003 (GRCm39) |
D1512V |
probably damaging |
Het |
Cul9 |
T |
C |
17: 46,832,828 (GRCm39) |
T1372A |
possibly damaging |
Het |
Dyrk4 |
G |
T |
6: 126,857,208 (GRCm39) |
D490E |
possibly damaging |
Het |
E4f1 |
C |
T |
17: 24,663,574 (GRCm39) |
V626M |
probably damaging |
Het |
Edc3 |
C |
T |
9: 57,634,678 (GRCm39) |
R232C |
probably damaging |
Het |
Eppk1 |
A |
G |
15: 75,994,895 (GRCm39) |
I662T |
probably benign |
Het |
G3bp2 |
C |
T |
5: 92,231,356 (GRCm39) |
|
probably benign |
Het |
Grik3 |
T |
C |
4: 125,550,166 (GRCm39) |
L397P |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,419,936 (GRCm39) |
N627S |
possibly damaging |
Het |
Hecw2 |
C |
T |
1: 53,952,507 (GRCm39) |
V909I |
probably benign |
Het |
Hsd17b12 |
A |
T |
2: 93,945,397 (GRCm39) |
M75K |
probably damaging |
Het |
Htt |
C |
T |
5: 34,977,633 (GRCm39) |
T809I |
probably benign |
Het |
Itih1 |
A |
G |
14: 30,655,381 (GRCm39) |
S609P |
probably damaging |
Het |
Klk1b9 |
T |
A |
7: 43,629,666 (GRCm39) |
C234S |
probably damaging |
Het |
Lrrc37a |
A |
G |
11: 103,389,536 (GRCm39) |
L1963P |
probably benign |
Het |
Lypd3 |
C |
A |
7: 24,337,932 (GRCm39) |
H99Q |
probably damaging |
Het |
Mdn1 |
C |
A |
4: 32,751,390 (GRCm39) |
H4593Q |
probably damaging |
Het |
Mroh1 |
A |
G |
15: 76,297,126 (GRCm39) |
S325G |
probably benign |
Het |
Muc5ac |
G |
A |
7: 141,372,609 (GRCm39) |
G3452R |
probably damaging |
Het |
Myrfl |
A |
T |
10: 116,612,696 (GRCm39) |
D884E |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,274,370 (GRCm39) |
H260Q |
probably damaging |
Het |
Ngef |
A |
G |
1: 87,408,883 (GRCm39) |
L519P |
probably damaging |
Het |
Or5ac20 |
A |
G |
16: 59,104,194 (GRCm39) |
L222P |
probably damaging |
Het |
Or5b102 |
T |
A |
19: 13,041,307 (GRCm39) |
C177* |
probably null |
Het |
Or5w1b |
A |
T |
2: 87,475,960 (GRCm39) |
F169Y |
probably damaging |
Het |
Pcca |
A |
G |
14: 122,854,260 (GRCm39) |
K184R |
probably benign |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Ppp6r1 |
A |
T |
7: 4,644,289 (GRCm39) |
V379E |
probably benign |
Het |
Prkca |
A |
T |
11: 107,842,286 (GRCm39) |
|
probably benign |
Het |
Prune2 |
A |
G |
19: 17,100,442 (GRCm39) |
E1982G |
probably damaging |
Het |
Rad21l |
T |
C |
2: 151,509,838 (GRCm39) |
T88A |
probably benign |
Het |
Sec62 |
T |
C |
3: 30,864,177 (GRCm39) |
|
probably null |
Het |
Slc22a19 |
C |
T |
19: 7,670,086 (GRCm39) |
R256Q |
possibly damaging |
Het |
Slc43a2 |
G |
T |
11: 75,434,192 (GRCm39) |
|
probably null |
Het |
Smarcd3 |
T |
C |
5: 24,803,792 (GRCm39) |
M30V |
probably benign |
Het |
Tes3-ps |
T |
A |
13: 49,647,356 (GRCm39) |
D77E |
probably benign |
Het |
Thbs3 |
G |
A |
3: 89,131,937 (GRCm39) |
|
probably benign |
Het |
Trpm2 |
A |
T |
10: 77,768,128 (GRCm39) |
N790K |
probably benign |
Het |
Ttc13 |
A |
T |
8: 125,405,816 (GRCm39) |
N492K |
possibly damaging |
Het |
Ttc39c |
T |
C |
18: 12,828,545 (GRCm39) |
L235P |
probably damaging |
Het |
Tyms |
T |
C |
5: 30,278,360 (GRCm39) |
|
probably benign |
Het |
Whamm |
A |
T |
7: 81,234,933 (GRCm39) |
K333* |
probably null |
Het |
Ydjc |
A |
G |
16: 16,968,732 (GRCm39) |
I224V |
probably benign |
Het |
Zc3hav1 |
C |
T |
6: 38,313,416 (GRCm39) |
D210N |
possibly damaging |
Het |
Zfp735 |
G |
A |
11: 73,581,127 (GRCm39) |
E55K |
possibly damaging |
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 |
R5141:Rpgrip1l
|
UTSW |
8 |
91,987,546 (GRCm39) |
missense |
probably benign |
0.29 |
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 |
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'- TGTAGGGAAAATGCTATGATTTCC -3'
(R):5'- CCTTTGACATAAGCAGAGACAGTAAG -3'
Sequencing Primer
(F):5'- ACCTTGGAAGGATACGCA -3'
(R):5'- AGTAAGCAGAGCCCGTCTTTACTG -3'
|
Posted On |
2021-11-08 |