Incidental Mutation 'R9366:Rpgrip1l'
ID |
708979 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpgrip1l
|
Ensembl Gene |
ENSMUSG00000033282 |
Gene Name |
Rpgrip1-like |
Synonyms |
Nphp8, 1700047E16Rik, Ftm, fantom |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9366 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
91943658-92039890 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 91996809 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 690
(Y690*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042702
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047783]
[ENSMUST00000139113]
[ENSMUST00000209616]
|
AlphaFold |
Q8CG73 |
Predicted Effect |
probably null
Transcript: ENSMUST00000047783
AA Change: Y690*
|
SMART Domains |
Protein: ENSMUSP00000042702 Gene: ENSMUSG00000033282 AA Change: Y690*
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 null
Transcript: ENSMUST00000209616
AA Change: Y88*
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
C |
T |
8: 71,914,328 (GRCm39) |
R100Q |
probably benign |
Het |
Acp5 |
C |
T |
9: 22,039,224 (GRCm39) |
C163Y |
probably damaging |
Het |
Ankrd17 |
C |
T |
5: 90,416,508 (GRCm39) |
R1108Q |
probably damaging |
Het |
Atp2b4 |
C |
A |
1: 133,642,920 (GRCm39) |
G1062C |
probably damaging |
Het |
Bicral |
A |
T |
17: 47,117,558 (GRCm39) |
M788K |
possibly damaging |
Het |
C1s2 |
C |
A |
6: 124,602,694 (GRCm39) |
A506S |
probably benign |
Het |
Capn9 |
C |
G |
8: 125,332,280 (GRCm39) |
T417S |
probably benign |
Het |
Cd109 |
T |
G |
9: 78,622,275 (GRCm39) |
S1422A |
probably benign |
Het |
Cd207 |
G |
T |
6: 83,648,779 (GRCm39) |
N294K |
probably damaging |
Het |
Cdc42bpa |
A |
G |
1: 179,921,675 (GRCm39) |
E605G |
probably damaging |
Het |
Cdhr1 |
C |
A |
14: 36,811,463 (GRCm39) |
G216V |
possibly damaging |
Het |
Ckap2 |
A |
T |
8: 22,658,988 (GRCm39) |
M585K |
possibly damaging |
Het |
Clp1 |
G |
T |
2: 84,556,473 (GRCm39) |
S2R |
probably benign |
Het |
Cngb3 |
G |
T |
4: 19,395,983 (GRCm39) |
V342F |
probably benign |
Het |
Col18a1 |
T |
C |
10: 76,932,258 (GRCm39) |
D65G |
unknown |
Het |
Col3a1 |
C |
T |
1: 45,380,391 (GRCm39) |
P972S |
unknown |
Het |
Cxcr5 |
C |
T |
9: 44,424,730 (GRCm39) |
C309Y |
possibly damaging |
Het |
Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
Dcc |
A |
T |
18: 71,708,281 (GRCm39) |
N478K |
probably damaging |
Het |
Emb |
G |
T |
13: 117,357,096 (GRCm39) |
|
probably benign |
Het |
Emsy |
A |
T |
7: 98,290,860 (GRCm39) |
N101K |
probably benign |
Het |
Epb41l5 |
A |
G |
1: 119,548,448 (GRCm39) |
Y137H |
probably damaging |
Het |
Etfdh |
C |
T |
3: 79,519,271 (GRCm39) |
G354D |
probably benign |
Het |
Fa2h |
A |
T |
8: 112,076,006 (GRCm39) |
Y206N |
probably benign |
Het |
Gabrr2 |
T |
C |
4: 33,085,771 (GRCm39) |
V217A |
|
Het |
Gimap4 |
A |
G |
6: 48,668,037 (GRCm39) |
K264R |
probably benign |
Het |
Gpr31b |
C |
A |
17: 13,270,375 (GRCm39) |
D265Y |
probably damaging |
Het |
Irx4 |
A |
G |
13: 73,417,025 (GRCm39) |
T474A |
probably benign |
Het |
Kif21a |
T |
C |
15: 90,843,951 (GRCm39) |
E1096G |
probably damaging |
Het |
Letm2 |
A |
T |
8: 26,084,165 (GRCm39) |
V22E |
probably damaging |
Het |
Lrrc45 |
A |
G |
11: 120,611,552 (GRCm39) |
E642G |
probably damaging |
Het |
Mark1 |
A |
T |
1: 184,653,792 (GRCm39) |
V170E |
probably damaging |
Het |
Mbd6 |
G |
A |
10: 127,122,304 (GRCm39) |
Q175* |
probably null |
Het |
Mrc1 |
T |
A |
2: 14,321,709 (GRCm39) |
D1067E |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,417,041 (GRCm39) |
H3329R |
probably benign |
Het |
Myh1 |
A |
T |
11: 67,110,114 (GRCm39) |
D1434V |
probably damaging |
Het |
Myo5a |
T |
A |
9: 75,124,800 (GRCm39) |
L1785Q |
probably damaging |
Het |
Myrfl |
A |
G |
10: 116,670,358 (GRCm39) |
I295T |
possibly damaging |
Het |
Nav3 |
C |
A |
10: 109,659,364 (GRCm39) |
R751L |
probably damaging |
Het |
Neb |
T |
C |
2: 52,172,699 (GRCm39) |
K1536R |
probably benign |
Het |
Nynrin |
T |
G |
14: 56,100,587 (GRCm39) |
S126A |
probably damaging |
Het |
Or13p3 |
A |
T |
4: 118,566,831 (GRCm39) |
T76S |
probably damaging |
Het |
Or5m8 |
A |
G |
2: 85,822,731 (GRCm39) |
D190G |
possibly damaging |
Het |
Or6c69c |
A |
T |
10: 129,911,067 (GRCm39) |
K263* |
probably null |
Het |
Parp14 |
A |
C |
16: 35,659,630 (GRCm39) |
|
probably null |
Het |
Phldb1 |
G |
T |
9: 44,622,546 (GRCm39) |
L36M |
possibly damaging |
Het |
Pin1 |
C |
A |
9: 20,566,841 (GRCm39) |
T81N |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,410,308 (GRCm39) |
I2605T |
probably benign |
Het |
Plcb3 |
A |
G |
19: 6,937,658 (GRCm39) |
|
probably null |
Het |
Proser3 |
G |
A |
7: 30,248,478 (GRCm39) |
S72L |
probably damaging |
Het |
Pum2 |
T |
A |
12: 8,783,344 (GRCm39) |
S598T |
probably benign |
Het |
Pwp1 |
T |
A |
10: 85,717,870 (GRCm39) |
N269K |
probably damaging |
Het |
Qsox1 |
A |
G |
1: 155,665,162 (GRCm39) |
S260P |
probably benign |
Het |
Ric3 |
A |
G |
7: 108,653,644 (GRCm39) |
L149P |
probably damaging |
Het |
Rif1 |
A |
G |
2: 52,010,356 (GRCm39) |
T707A |
|
Het |
Rnf213 |
A |
C |
11: 119,327,057 (GRCm39) |
R1682S |
|
Het |
Slc29a2 |
A |
G |
19: 5,074,609 (GRCm39) |
T34A |
probably damaging |
Het |
Slc6a1 |
A |
G |
6: 114,280,974 (GRCm39) |
N176S |
possibly damaging |
Het |
Slco1b2 |
T |
A |
6: 141,602,552 (GRCm39) |
Y168* |
probably null |
Het |
Snca |
C |
A |
6: 60,792,675 (GRCm39) |
A78S |
probably benign |
Het |
Snrnp200 |
T |
A |
2: 127,058,010 (GRCm39) |
D257E |
probably benign |
Het |
Srebf2 |
T |
C |
15: 82,083,837 (GRCm39) |
V959A |
probably benign |
Het |
Stk3 |
A |
C |
15: 35,072,634 (GRCm39) |
I209S |
probably damaging |
Het |
Thsd7a |
A |
T |
6: 12,555,480 (GRCm39) |
C135S |
|
Het |
Tlnrd1 |
G |
T |
7: 83,531,582 (GRCm39) |
A283E |
probably benign |
Het |
Tomm70a |
A |
T |
16: 56,970,259 (GRCm39) |
K546* |
probably null |
Het |
Trak1 |
C |
T |
9: 121,301,578 (GRCm39) |
T778I |
probably damaging |
Het |
Trappc9 |
T |
C |
15: 72,808,937 (GRCm39) |
I709V |
probably benign |
Het |
Trgc3 |
A |
G |
13: 19,446,825 (GRCm39) |
T115A |
probably benign |
Het |
Trp53rkb |
T |
C |
2: 166,637,700 (GRCm39) |
S219P |
possibly damaging |
Het |
Ubqlnl |
G |
C |
7: 103,798,592 (GRCm39) |
L302V |
possibly damaging |
Het |
Uqcc1 |
C |
A |
2: 155,771,995 (GRCm39) |
|
probably benign |
Het |
Vps13a |
G |
A |
19: 16,672,894 (GRCm39) |
R1293W |
probably damaging |
Het |
Vps9d1 |
G |
T |
8: 123,974,486 (GRCm39) |
S267* |
probably null |
Het |
Vwa5b1 |
A |
T |
4: 138,318,229 (GRCm39) |
I546N |
probably damaging |
Het |
Zbtb8b |
A |
T |
4: 129,326,151 (GRCm39) |
M338K |
probably benign |
Het |
Zfp652 |
C |
T |
11: 95,643,833 (GRCm39) |
R344* |
probably null |
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 |
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 |
|
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'- ACCCAAAATGCCCTTAATGTG -3'
(R):5'- TGAAGTCCTTCGGGCATCTG -3'
Sequencing Primer
(F):5'- AATGCCCTTAATGTGTGAGATAAG -3'
(R):5'- GGCATCTGGTGATAAAGAACTTGTC -3'
|
Posted On |
2022-04-18 |