Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02034:Rpgrip1l'

184471

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) question?

Stock #

IGL02034

Quality Score

Status

Chromosome

Chromosomal Location

91943658-92039890 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 91977776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000042702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047783] [ENSMUST00000139113] [ENSMUST00000209616]

AlphaFold

Q8CG73

Predicted Effect

probably null
Transcript: ENSMUST00000047783

SMART Domains

Protein: ENSMUSP00000042702
Gene: ENSMUSG00000033282

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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcor	A	G	X: 11,905,498 (GRCm39)	S1556P	possibly damaging	Het
Brd10	A	G	19: 29,694,259 (GRCm39)	S1745P	possibly damaging	Het
Ccdc6	T	A	10: 70,004,978 (GRCm39)	I241N	probably benign	Het
Cd81	T	C	7: 142,619,986 (GRCm39)	I48T	probably damaging	Het
Cfap52	A	G	11: 67,837,118 (GRCm39)		probably null	Het
Cfap54	T	C	10: 92,897,347 (GRCm39)	M264V	probably damaging	Het
Cmya5	G	A	13: 93,221,043 (GRCm39)		probably benign	Het
Csn2	A	G	5: 87,843,941 (GRCm39)		probably benign	Het
Cyfip1	G	A	7: 55,548,101 (GRCm39)	R567Q	probably damaging	Het
Ehbp1	A	G	11: 22,235,486 (GRCm39)		probably null	Het
Ermp1	G	A	19: 29,623,359 (GRCm39)		probably benign	Het
Erv3	C	T	2: 131,697,934 (GRCm39)	V142I	possibly damaging	Het
Fzd2	A	G	11: 102,495,730 (GRCm39)	N58S	probably damaging	Het
Gcm2	G	A	13: 41,259,269 (GRCm39)	R67C	probably damaging	Het
Gm17019	A	G	5: 15,080,266 (GRCm39)	I182T	possibly damaging	Het
Gpr45	T	C	1: 43,072,478 (GRCm39)	*374Q	probably null	Het
Haus8	T	C	8: 71,708,202 (GRCm39)	N165S	probably damaging	Het
Hoxd4	T	A	2: 74,558,750 (GRCm39)	L191Q	probably damaging	Het
I830077J02Rik	A	G	3: 105,834,565 (GRCm39)		probably benign	Het
Lpl	T	C	8: 69,333,424 (GRCm39)	L7P	possibly damaging	Het
Lrp1b	T	A	2: 41,158,382 (GRCm39)	K1612*	probably null	Het
Myh14	G	T	7: 44,265,717 (GRCm39)	A1546D	possibly damaging	Het
Nbea	A	G	3: 55,875,577 (GRCm39)	S1698P	probably damaging	Het
Or10p22	A	T	10: 128,826,570 (GRCm39)	Q263L	probably benign	Het
Or4c112	C	T	2: 88,854,015 (GRCm39)	V111M	probably benign	Het
Or52e7	C	A	7: 104,684,597 (GRCm39)	T64N	probably benign	Het
Or5p51	G	A	7: 107,444,385 (GRCm39)	T185I	probably benign	Het
Otog	A	T	7: 45,945,417 (GRCm39)	K40*	probably null	Het
Rgma	C	A	7: 73,067,181 (GRCm39)	H145Q	probably damaging	Het
Ssxb2	T	A	X: 8,324,743 (GRCm39)		probably benign	Het
Tmem175	C	T	5: 108,790,002 (GRCm39)	T118I	probably damaging	Het
Wdhd1	A	G	14: 47,498,808 (GRCm39)	V542A	probably benign	Het
Zfp977	G	A	7: 42,230,136 (GRCm39)	P130S	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
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
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

2014-05-07