Incidental Mutation 'R7243:Rpgrip1l'
ID |
563364 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpgrip1l
|
Ensembl Gene |
ENSMUSG00000033282 |
Gene Name |
Rpgrip1-like |
Synonyms |
Nphp8, 1700047E16Rik, Ftm, fantom |
MMRRC Submission |
045307-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7243 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
91943658-92039890 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 91996751 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 710
(I710V)
|
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: I710V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000042702 Gene: ENSMUSG00000033282 AA Change: I710V
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
AA Change: I108V
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (73/74) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
G |
A |
11: 69,781,297 (GRCm39) |
H103Y |
probably benign |
Het |
Adamdec1 |
A |
G |
14: 68,809,203 (GRCm39) |
M253T |
probably benign |
Het |
Alox15 |
C |
A |
11: 70,241,540 (GRCm39) |
G114C |
probably null |
Het |
Aox3 |
G |
T |
1: 58,177,466 (GRCm39) |
G227V |
unknown |
Het |
Atp8a2 |
A |
T |
14: 59,885,291 (GRCm39) |
N1144K |
probably benign |
Het |
Cacna1c |
C |
T |
6: 118,614,690 (GRCm39) |
|
probably null |
Het |
Cog6 |
A |
T |
3: 52,909,736 (GRCm39) |
W314R |
probably damaging |
Het |
Col5a2 |
A |
G |
1: 45,415,320 (GRCm39) |
I1473T |
probably benign |
Het |
Csmd1 |
T |
A |
8: 15,965,357 (GRCm39) |
D3218V |
probably damaging |
Het |
Cyp3a11 |
A |
G |
5: 145,795,613 (GRCm39) |
M446T |
probably damaging |
Het |
Dhps |
A |
G |
8: 85,801,567 (GRCm39) |
Y340C |
probably benign |
Het |
Dnah7b |
A |
G |
1: 46,122,914 (GRCm39) |
N108S |
probably benign |
Het |
Dnajb1 |
C |
T |
8: 84,337,393 (GRCm39) |
P323L |
probably damaging |
Het |
Dspp |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
5: 104,326,227 (GRCm39) |
|
probably benign |
Het |
Dync2h1 |
G |
T |
9: 7,102,405 (GRCm39) |
T2665K |
possibly damaging |
Het |
Etv1 |
C |
T |
12: 38,907,045 (GRCm39) |
S349L |
probably benign |
Het |
Fam171a1 |
A |
T |
2: 3,119,653 (GRCm39) |
T21S |
probably benign |
Het |
Fbh1 |
T |
A |
2: 11,756,336 (GRCm39) |
T749S |
probably benign |
Het |
Fcho2 |
T |
C |
13: 98,891,724 (GRCm39) |
D346G |
possibly damaging |
Het |
Fcrl5 |
A |
G |
3: 87,349,552 (GRCm39) |
H109R |
probably benign |
Het |
Fstl1 |
A |
G |
16: 37,647,088 (GRCm39) |
S153G |
probably benign |
Het |
Fyb1 |
T |
C |
15: 6,673,180 (GRCm39) |
F605L |
probably benign |
Het |
Gcat |
T |
A |
15: 78,921,063 (GRCm39) |
M363K |
possibly damaging |
Het |
Gm10604 |
T |
C |
4: 11,980,113 (GRCm39) |
T64A |
unknown |
Het |
Grin2d |
A |
G |
7: 45,515,552 (GRCm39) |
L147P |
probably damaging |
Het |
Ift88 |
A |
T |
14: 57,667,993 (GRCm39) |
|
probably null |
Het |
Ighg1 |
A |
T |
12: 113,294,066 (GRCm39) |
C26S |
|
Het |
Ing2 |
A |
G |
8: 48,127,574 (GRCm39) |
S48P |
probably damaging |
Het |
Kat6a |
C |
T |
8: 23,428,791 (GRCm39) |
T1382I |
probably benign |
Het |
Kdm1a |
A |
G |
4: 136,279,265 (GRCm39) |
V765A |
probably damaging |
Het |
Klk1b26 |
T |
C |
7: 43,665,691 (GRCm39) |
S168P |
not run |
Het |
Klk1b26 |
A |
G |
7: 43,666,337 (GRCm39) |
N260S |
probably damaging |
Het |
Lama3 |
G |
A |
18: 12,552,902 (GRCm39) |
G438D |
probably damaging |
Het |
Larp6 |
T |
A |
9: 60,620,569 (GRCm39) |
D27E |
probably benign |
Het |
Lrba |
T |
A |
3: 86,658,823 (GRCm39) |
|
probably null |
Het |
Lrig2 |
A |
T |
3: 104,404,883 (GRCm39) |
|
probably null |
Het |
Megf9 |
T |
C |
4: 70,353,708 (GRCm39) |
E366G |
probably benign |
Het |
Mob1b |
T |
A |
5: 88,891,304 (GRCm39) |
D52E |
probably damaging |
Het |
Ndufb3 |
A |
T |
1: 58,630,282 (GRCm39) |
H11L |
unknown |
Het |
Odc1 |
T |
G |
12: 17,600,058 (GRCm39) |
Y407* |
probably null |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Opa1 |
A |
G |
16: 29,405,814 (GRCm39) |
I126M |
probably benign |
Het |
Or2t47 |
T |
C |
11: 58,442,227 (GRCm39) |
I279M |
probably damaging |
Het |
Or3a1b |
T |
A |
11: 74,012,559 (GRCm39) |
V148E |
probably damaging |
Het |
Or51a10 |
A |
G |
7: 103,698,962 (GRCm39) |
Y200H |
probably damaging |
Het |
Or51f5 |
A |
T |
7: 102,430,865 (GRCm39) |
T61S |
probably benign |
Het |
Pcca |
A |
G |
14: 123,114,186 (GRCm39) |
H633R |
probably benign |
Het |
Pcdhb22 |
A |
G |
18: 37,653,685 (GRCm39) |
R461G |
probably benign |
Het |
Pcf11 |
A |
T |
7: 92,309,268 (GRCm39) |
D647E |
probably damaging |
Het |
Plscr1l1 |
A |
G |
9: 92,225,726 (GRCm39) |
Y16C |
probably damaging |
Het |
Plxnd1 |
T |
A |
6: 115,949,468 (GRCm39) |
I773F |
probably benign |
Het |
Prl8a1 |
A |
T |
13: 27,766,086 (GRCm39) |
L3Q |
probably damaging |
Het |
Psg17 |
C |
A |
7: 18,552,640 (GRCm39) |
G212C |
probably damaging |
Het |
Ptbp2 |
G |
T |
3: 119,546,761 (GRCm39) |
N40K |
possibly damaging |
Het |
Ptprj |
T |
C |
2: 90,276,765 (GRCm39) |
H1102R |
probably damaging |
Het |
Rbfox3 |
T |
C |
11: 118,404,100 (GRCm39) |
Y33C |
probably damaging |
Het |
Ros1 |
T |
A |
10: 51,999,477 (GRCm39) |
N1158Y |
probably damaging |
Het |
Scn9a |
A |
G |
2: 66,370,874 (GRCm39) |
F569L |
probably damaging |
Het |
Slc12a4 |
A |
T |
8: 106,680,552 (GRCm39) |
M190K |
probably damaging |
Het |
Slc22a20 |
G |
A |
19: 6,021,599 (GRCm39) |
R468C |
probably damaging |
Het |
Slc45a2 |
T |
A |
15: 11,023,436 (GRCm39) |
Y347N |
possibly damaging |
Het |
Slc4a10 |
A |
G |
2: 62,134,206 (GRCm39) |
Y974C |
probably damaging |
Het |
Snap47 |
A |
G |
11: 59,319,548 (GRCm39) |
S197P |
probably benign |
Het |
Snph |
T |
C |
2: 151,436,173 (GRCm39) |
S252G |
probably damaging |
Het |
Spns2 |
A |
T |
11: 72,347,686 (GRCm39) |
W335R |
probably damaging |
Het |
Thnsl1 |
A |
G |
2: 21,217,658 (GRCm39) |
I471V |
probably damaging |
Het |
Tmprss11f |
C |
A |
5: 86,677,975 (GRCm39) |
G265C |
probably damaging |
Het |
Tnn |
C |
T |
1: 159,934,687 (GRCm39) |
R1242H |
probably benign |
Het |
Tsc2 |
T |
C |
17: 24,818,604 (GRCm39) |
R1412G |
probably benign |
Het |
Tsc22d2 |
G |
T |
3: 58,323,884 (GRCm39) |
V259F |
unknown |
Het |
Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
Wls |
A |
T |
3: 159,615,402 (GRCm39) |
I306F |
possibly damaging |
Het |
Zfp566 |
A |
G |
7: 29,777,701 (GRCm39) |
V160A |
probably benign |
Het |
Zfyve28 |
T |
C |
5: 34,356,219 (GRCm39) |
T761A |
probably damaging |
Het |
Zswim8 |
G |
A |
14: 20,764,436 (GRCm39) |
R602Q |
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 |
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 |
|
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'- TTGCACCATCATTCATGACAC -3'
(R):5'- GAACTGCAGACTACTCCCATAGTG -3'
Sequencing Primer
(F):5'- CACTAAAGAGAGTTCAGTCACTTGTG -3'
(R):5'- GAGGCCTTTACCCGGAGTATAAC -3'
|
Posted On |
2019-06-26 |