Incidental Mutation 'R5916:Rpgrip1l'
ID |
461336 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpgrip1l
|
Ensembl Gene |
ENSMUSG00000033282 |
Gene Name |
Rpgrip1-like |
Synonyms |
Nphp8, 1700047E16Rik, Ftm, fantom |
MMRRC Submission |
044113-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5916 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
91943658-92039890 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 91979541 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 967
(R967L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042702
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047783]
[ENSMUST00000139113]
[ENSMUST00000209616]
|
AlphaFold |
Q8CG73 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047783
AA Change: R967L
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000042702 Gene: ENSMUSG00000033282 AA Change: R967L
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 |
unknown
Transcript: ENSMUST00000209616
AA Change: R188L
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.2%
- 20x: 92.4%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
A |
T |
4: 144,349,550 (GRCm39) |
N269I |
possibly damaging |
Het |
Abcc1 |
G |
T |
16: 14,283,006 (GRCm39) |
V1161F |
possibly damaging |
Het |
Adam3 |
A |
T |
8: 25,174,555 (GRCm39) |
|
probably null |
Het |
Agt |
A |
T |
8: 125,290,597 (GRCm39) |
S237T |
possibly damaging |
Het |
Ano3 |
A |
T |
2: 110,512,181 (GRCm39) |
F674L |
probably benign |
Het |
Asb2 |
G |
T |
12: 103,290,135 (GRCm39) |
A504E |
probably damaging |
Het |
Atp13a1 |
T |
A |
8: 70,259,748 (GRCm39) |
I1113N |
probably damaging |
Het |
Atxn7l2 |
T |
C |
3: 108,112,978 (GRCm39) |
|
probably null |
Het |
Bambi |
A |
G |
18: 3,511,463 (GRCm39) |
T95A |
probably benign |
Het |
Cfap210 |
A |
T |
2: 69,619,806 (GRCm39) |
M1K |
probably null |
Het |
Clrn1 |
T |
C |
3: 58,753,783 (GRCm39) |
T193A |
probably benign |
Het |
Colgalt2 |
T |
A |
1: 152,379,873 (GRCm39) |
D437E |
probably damaging |
Het |
Dchs1 |
C |
A |
7: 105,408,373 (GRCm39) |
A1820S |
probably damaging |
Het |
Dnah12 |
T |
A |
14: 26,428,073 (GRCm39) |
I233N |
possibly damaging |
Het |
Dsc3 |
T |
C |
18: 20,120,077 (GRCm39) |
N194D |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,102,309 (GRCm39) |
|
probably null |
Het |
Erich3 |
A |
T |
3: 154,401,460 (GRCm39) |
R36S |
probably damaging |
Het |
Fam243 |
T |
A |
16: 92,117,559 (GRCm39) |
E243V |
probably damaging |
Het |
Fmnl3 |
A |
T |
15: 99,219,709 (GRCm39) |
C680S |
probably damaging |
Het |
Focad |
T |
C |
4: 88,275,778 (GRCm39) |
L1129P |
unknown |
Het |
Fzd3 |
G |
A |
14: 65,440,178 (GRCm39) |
T664I |
probably benign |
Het |
Glb1l3 |
T |
C |
9: 26,766,032 (GRCm39) |
I129V |
probably benign |
Het |
Heatr1 |
T |
C |
13: 12,449,352 (GRCm39) |
F1950S |
probably damaging |
Het |
Herc6 |
G |
A |
6: 57,623,188 (GRCm39) |
G597E |
probably benign |
Het |
Hmcn2 |
T |
A |
2: 31,286,151 (GRCm39) |
V2101D |
probably damaging |
Het |
Il17re |
T |
A |
6: 113,447,084 (GRCm39) |
C612S |
probably damaging |
Het |
Il36g |
T |
G |
2: 24,082,806 (GRCm39) |
*194E |
probably null |
Het |
Junb |
T |
C |
8: 85,704,505 (GRCm39) |
Y185C |
probably benign |
Het |
Lrriq1 |
G |
A |
10: 103,057,243 (GRCm39) |
Q186* |
probably null |
Het |
Lrrn2 |
T |
A |
1: 132,865,538 (GRCm39) |
V201E |
probably damaging |
Het |
Ly6l |
A |
T |
15: 75,323,027 (GRCm39) |
T68S |
probably benign |
Het |
Marchf1 |
G |
T |
8: 66,839,763 (GRCm39) |
R182L |
possibly damaging |
Het |
Megf6 |
A |
G |
4: 154,333,882 (GRCm39) |
|
probably null |
Het |
Mga |
T |
A |
2: 119,794,793 (GRCm39) |
S2708T |
probably benign |
Het |
Mx1 |
T |
C |
16: 97,252,933 (GRCm39) |
T396A |
probably benign |
Het |
Naip5 |
A |
C |
13: 100,359,209 (GRCm39) |
S676A |
probably benign |
Het |
Npepl1 |
G |
T |
2: 173,963,337 (GRCm39) |
W456C |
probably benign |
Het |
Ntrk2 |
A |
G |
13: 58,956,543 (GRCm39) |
M1V |
probably null |
Het |
Nufip1 |
T |
C |
14: 76,372,340 (GRCm39) |
*485Q |
probably null |
Het |
Ocln |
T |
G |
13: 100,642,687 (GRCm39) |
D216A |
possibly damaging |
Het |
Or10x1 |
A |
T |
1: 174,196,698 (GRCm39) |
T72S |
probably damaging |
Het |
Or1o11 |
C |
T |
17: 37,756,570 (GRCm39) |
L53F |
probably benign |
Het |
Or4f57 |
A |
G |
2: 111,791,175 (GRCm39) |
M81T |
probably damaging |
Het |
Or55b4 |
G |
A |
7: 102,133,586 (GRCm39) |
S247F |
probably damaging |
Het |
Ptprq |
A |
T |
10: 107,359,374 (GRCm39) |
M2243K |
probably damaging |
Het |
Rad51b |
C |
T |
12: 79,371,856 (GRCm39) |
Q190* |
probably null |
Het |
Resf1 |
C |
T |
6: 149,228,076 (GRCm39) |
T374I |
probably damaging |
Het |
Rfx8 |
T |
C |
1: 39,727,779 (GRCm39) |
Y182C |
probably benign |
Het |
Scube2 |
A |
G |
7: 109,430,931 (GRCm39) |
Y423H |
possibly damaging |
Het |
Sipa1l2 |
A |
T |
8: 126,195,312 (GRCm39) |
Y809N |
probably damaging |
Het |
Slc35f1 |
C |
A |
10: 52,809,317 (GRCm39) |
Y101* |
probably null |
Het |
Tbc1d22a |
A |
G |
15: 86,098,809 (GRCm39) |
K12E |
possibly damaging |
Het |
Tent2 |
T |
C |
13: 93,312,055 (GRCm39) |
D215G |
probably damaging |
Het |
Tmcc2 |
C |
T |
1: 132,285,429 (GRCm39) |
V646M |
probably damaging |
Het |
Tpp1 |
A |
T |
7: 105,398,587 (GRCm39) |
M243K |
probably damaging |
Het |
Trappc12 |
A |
G |
12: 28,741,513 (GRCm39) |
L732P |
probably damaging |
Het |
U2af2 |
A |
T |
7: 5,082,179 (GRCm39) |
|
probably null |
Het |
Utrn |
T |
A |
10: 12,540,795 (GRCm39) |
N1877Y |
probably damaging |
Het |
Vsir |
C |
T |
10: 60,193,816 (GRCm39) |
T93I |
probably damaging |
Het |
Zkscan5 |
T |
A |
5: 145,142,112 (GRCm39) |
M3K |
possibly damaging |
Het |
Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
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 |
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 |
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'- TACCACAGTAAAGACGGGCTC -3'
(R):5'- GAACCAGAGGCTGTTCAGAG -3'
Sequencing Primer
(F):5'- TAAAGACGGGCTCTGCTTAC -3'
(R):5'- AGAGGCTGTTCAGAGACTACCTC -3'
|
Posted On |
2017-02-28 |