Incidental Mutation 'IGL02962:Rpgrip1l'
ID |
365383 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rpgrip1l
|
Ensembl Gene |
ENSMUSG00000033282 |
Gene Name |
Rpgrip1-like |
Synonyms |
Nphp8, 1700047E16Rik, Ftm, fantom |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02962
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
91943658-92039890 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 91996990 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 28
(V28D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147300
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047783]
[ENSMUST00000139113]
[ENSMUST00000209616]
|
AlphaFold |
Q8CG73 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047783
AA Change: V630D
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000042702 Gene: ENSMUSG00000033282 AA Change: V630D
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 |
noncoding transcript
Transcript: ENSMUST00000136198
|
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 |
possibly damaging
Transcript: ENSMUST00000209616
AA Change: V28D
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
Coding Region Coverage |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
A |
10: 100,446,455 (GRCm39) |
|
probably null |
Het |
9530068E07Rik |
T |
C |
11: 52,294,362 (GRCm39) |
V209A |
possibly damaging |
Het |
Abca3 |
T |
A |
17: 24,619,383 (GRCm39) |
V907E |
probably damaging |
Het |
Acvrl1 |
T |
C |
15: 101,033,382 (GRCm39) |
Y90H |
probably benign |
Het |
Aff3 |
T |
C |
1: 38,574,737 (GRCm39) |
D81G |
probably damaging |
Het |
Amn |
G |
T |
12: 111,240,951 (GRCm39) |
V152L |
probably damaging |
Het |
Arhgap44 |
A |
G |
11: 64,957,987 (GRCm39) |
|
probably benign |
Het |
Atad5 |
T |
A |
11: 79,999,405 (GRCm39) |
V895D |
possibly damaging |
Het |
Card9 |
T |
G |
2: 26,248,029 (GRCm39) |
|
probably null |
Het |
Ccer1 |
T |
C |
10: 97,529,702 (GRCm39) |
S122P |
unknown |
Het |
Ccr2 |
A |
G |
9: 123,905,712 (GRCm39) |
|
probably benign |
Het |
Dsg1a |
T |
A |
18: 20,473,381 (GRCm39) |
I818N |
possibly damaging |
Het |
Ear10 |
G |
T |
14: 44,160,774 (GRCm39) |
L18I |
probably damaging |
Het |
Mertk |
A |
G |
2: 128,619,374 (GRCm39) |
Y544C |
probably damaging |
Het |
Miga1 |
A |
T |
3: 151,990,978 (GRCm39) |
|
probably benign |
Het |
Myo18a |
T |
C |
11: 77,669,061 (GRCm39) |
V307A |
probably damaging |
Het |
Or5p64 |
A |
T |
7: 107,854,910 (GRCm39) |
I145N |
possibly damaging |
Het |
Or7a38 |
T |
A |
10: 78,752,773 (GRCm39) |
L33H |
probably damaging |
Het |
Pou2f3 |
T |
C |
9: 43,036,384 (GRCm39) |
|
probably benign |
Het |
Pramel23 |
T |
A |
4: 143,423,910 (GRCm39) |
E293V |
probably benign |
Het |
Prickle2 |
A |
C |
6: 92,353,403 (GRCm39) |
S744A |
probably benign |
Het |
Prkcb |
T |
A |
7: 122,024,270 (GRCm39) |
|
probably null |
Het |
Prkd2 |
A |
G |
7: 16,603,757 (GRCm39) |
T813A |
probably benign |
Het |
Prkra |
G |
A |
2: 76,463,891 (GRCm39) |
T257M |
probably damaging |
Het |
Rbm18 |
C |
T |
2: 36,012,886 (GRCm39) |
R102Q |
probably damaging |
Het |
Rbsn |
A |
G |
6: 92,167,307 (GRCm39) |
S446P |
probably benign |
Het |
Sdccag8 |
A |
T |
1: 176,775,928 (GRCm39) |
K613I |
probably damaging |
Het |
Serbp1 |
G |
A |
6: 67,244,103 (GRCm39) |
G8D |
probably damaging |
Het |
Slc6a2 |
T |
A |
8: 93,699,390 (GRCm39) |
Y139* |
probably null |
Het |
Slc7a2 |
T |
A |
8: 41,358,621 (GRCm39) |
F321L |
probably damaging |
Het |
Slco1b2 |
G |
A |
6: 141,594,279 (GRCm39) |
S48N |
probably damaging |
Het |
Ssbp2 |
G |
T |
13: 91,790,490 (GRCm39) |
V118L |
possibly damaging |
Het |
Sugp1 |
T |
A |
8: 70,512,512 (GRCm39) |
|
probably benign |
Het |
Taar5 |
C |
A |
10: 23,846,883 (GRCm39) |
R94S |
possibly damaging |
Het |
Tgs1 |
G |
T |
4: 3,586,181 (GRCm39) |
A353S |
probably benign |
Het |
Trav1 |
A |
G |
14: 52,666,099 (GRCm39) |
E32G |
probably damaging |
Het |
Trp53bp2 |
T |
C |
1: 182,259,160 (GRCm39) |
V71A |
probably benign |
Het |
Vmn2r50 |
T |
C |
7: 9,784,252 (GRCm39) |
Y74C |
probably damaging |
Het |
Wars1 |
A |
T |
12: 108,841,706 (GRCm39) |
M147K |
probably 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 |
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 |
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 |
|
|
Posted On |
2015-12-18 |