Incidental Mutation 'R5793:Rpgrip1l'
ID |
447078 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpgrip1l
|
Ensembl Gene |
ENSMUSG00000033282 |
Gene Name |
Rpgrip1-like |
Synonyms |
Nphp8, 1700047E16Rik, Ftm, fantom |
MMRRC Submission |
043208-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5793 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
91943658-92039890 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 91987400 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 886
(S886P)
|
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: S886P
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000042702 Gene: ENSMUSG00000033282 AA Change: S886P
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12 |
C |
A |
11: 70,133,879 (GRCm39) |
R522L |
probably benign |
Het |
Arfgef1 |
A |
T |
1: 10,279,753 (GRCm39) |
D271E |
probably benign |
Het |
Arg1 |
C |
T |
10: 24,796,540 (GRCm39) |
V96M |
probably benign |
Het |
Axin1 |
T |
C |
17: 26,362,282 (GRCm39) |
S209P |
probably damaging |
Het |
B4galnt3 |
A |
G |
6: 120,185,865 (GRCm39) |
|
probably null |
Het |
Cdh23 |
T |
A |
10: 60,141,907 (GRCm39) |
D3058V |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,728,384 (GRCm39) |
T794A |
probably damaging |
Het |
Ckap5 |
C |
T |
2: 91,450,180 (GRCm39) |
T1891I |
possibly damaging |
Het |
Cspg4b |
G |
T |
13: 113,457,556 (GRCm39) |
V1201L |
possibly damaging |
Het |
Dzank1 |
T |
C |
2: 144,348,144 (GRCm39) |
I207M |
probably benign |
Het |
Fkbp9 |
G |
A |
6: 56,850,498 (GRCm39) |
|
probably null |
Het |
Gm4781 |
T |
A |
10: 100,232,529 (GRCm39) |
|
noncoding transcript |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Gtpbp6 |
G |
A |
5: 110,255,094 (GRCm39) |
L33F |
probably benign |
Het |
Hsd11b1 |
A |
C |
1: 192,924,492 (GRCm39) |
F27V |
probably damaging |
Het |
Ift172 |
A |
T |
5: 31,434,292 (GRCm39) |
I482N |
possibly damaging |
Het |
Kcnma1 |
C |
T |
14: 23,359,103 (GRCm39) |
|
probably null |
Het |
Ly6g2 |
T |
C |
15: 75,093,493 (GRCm39) |
|
probably benign |
Het |
Myh9 |
T |
C |
15: 77,653,077 (GRCm39) |
Q1420R |
probably benign |
Het |
Ncam2 |
G |
A |
16: 81,372,991 (GRCm39) |
V569I |
possibly damaging |
Het |
Nsd1 |
T |
C |
13: 55,395,819 (GRCm39) |
V1140A |
probably benign |
Het |
Ogdhl |
T |
A |
14: 32,054,730 (GRCm39) |
L226Q |
probably damaging |
Het |
Or51a24 |
T |
C |
7: 103,734,237 (GRCm39) |
T17A |
probably benign |
Het |
Orc2 |
T |
C |
1: 58,536,547 (GRCm39) |
M1V |
probably null |
Het |
Padi2 |
T |
C |
4: 140,660,501 (GRCm39) |
L327P |
probably benign |
Het |
Palb2 |
T |
C |
7: 121,726,860 (GRCm39) |
N337D |
probably benign |
Het |
Pard3b |
A |
T |
1: 61,807,132 (GRCm39) |
H49L |
probably damaging |
Het |
Pigz |
T |
C |
16: 31,764,285 (GRCm39) |
S448P |
probably benign |
Het |
Ppfia4 |
A |
G |
1: 134,239,844 (GRCm39) |
V911A |
probably damaging |
Het |
Prr5 |
T |
A |
15: 84,656,223 (GRCm39) |
M408K |
probably benign |
Het |
Qser1 |
T |
C |
2: 104,593,205 (GRCm39) |
Y1604C |
probably damaging |
Het |
Sdk2 |
T |
C |
11: 113,759,778 (GRCm39) |
I408V |
possibly damaging |
Het |
Sema7a |
A |
T |
9: 57,867,540 (GRCm39) |
R431W |
probably damaging |
Het |
Slc22a30 |
T |
A |
19: 8,314,183 (GRCm39) |
Y501F |
possibly damaging |
Het |
Slitrk5 |
T |
A |
14: 111,917,345 (GRCm39) |
V323D |
probably damaging |
Het |
Snap47 |
C |
T |
11: 59,329,018 (GRCm39) |
E95K |
probably damaging |
Het |
Tbc1d9 |
A |
T |
8: 83,998,069 (GRCm39) |
I1209F |
probably damaging |
Het |
Tek |
T |
A |
4: 94,708,333 (GRCm39) |
M297K |
probably benign |
Het |
Tmem132e |
T |
A |
11: 82,335,684 (GRCm39) |
I922N |
probably damaging |
Het |
Tmx2 |
T |
C |
2: 84,506,501 (GRCm39) |
R64G |
probably damaging |
Het |
Trim68 |
A |
T |
7: 102,333,560 (GRCm39) |
S41T |
possibly damaging |
Het |
Tsga10 |
A |
T |
1: 37,874,540 (GRCm39) |
M115K |
probably damaging |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Vmn2r84 |
C |
T |
10: 130,221,754 (GRCm39) |
C822Y |
probably damaging |
Het |
Wdr72 |
C |
T |
9: 74,117,625 (GRCm39) |
A779V |
probably benign |
Het |
Zfp580 |
A |
T |
7: 5,055,891 (GRCm39) |
|
probably benign |
Het |
Zfp772 |
G |
A |
7: 7,207,283 (GRCm39) |
T136I |
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 |
R5141:Rpgrip1l
|
UTSW |
8 |
91,987,546 (GRCm39) |
missense |
probably benign |
0.29 |
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'- GAAATGCTGTGGTTTCAAGCAAG -3'
(R):5'- TGATTTTCCAGACCATGATACCGC -3'
Sequencing Primer
(F):5'- CTGTGGTTTCAAGCAAGGAAATAAC -3'
(R):5'- GCCATCGTTCCCAGTAGCAATG -3'
|
Posted On |
2016-12-15 |