Mutagenetix > Incidental Mutation

Incidental Mutation 'R8955:Rpgrip1l'

681936

Institutional Source

Beutler Lab

Gene Symbol

Rpgrip1l

Ensembl Gene

ENSMUSG00000033282

Gene Name

Rpgrip1-like

Synonyms

Nphp8, 1700047E16Rik, Ftm, fantom

MMRRC Submission

068791-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8955 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91943658-92039890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 92007456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 378 (W378L)

Ref Sequence

ENSEMBL: ENSMUSP00000042702 (fasta)

Gene Model

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

AlphaFold

Q8CG73

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047783
AA Change: W378L

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000042702
Gene: ENSMUSG00000033282
AA Change: W378L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	C	T	15: 64,576,554 (GRCm39)	V1003I	possibly damaging	Het
Adgra3	T	A	5: 50,118,731 (GRCm39)	Y939F	probably benign	Het
Adra2b	T	C	2: 127,205,504 (GRCm39)	V2A	probably benign	Het
Aga	T	A	8: 53,974,164 (GRCm39)	Y296N	possibly damaging	Het
Apc	A	G	18: 34,401,370 (GRCm39)	Q52R	probably damaging	Het
Arfgef1	A	T	1: 10,270,062 (GRCm39)	S362R	probably benign	Het
Arhgef7	C	T	8: 11,808,451 (GRCm39)		probably benign	Het
Bmp5	A	T	9: 75,805,835 (GRCm39)	M446L	probably damaging	Het
Carmil3	C	T	14: 55,733,534 (GRCm39)	T350I	probably damaging	Het
Cd44	T	A	2: 102,683,363 (GRCm39)	T224S	probably damaging	Het
Cep112	A	T	11: 108,643,260 (GRCm39)	I7F	possibly damaging	Het
Chrna2	G	A	14: 66,379,681 (GRCm39)	A7T	probably benign	Het
Cldn16	G	A	16: 26,301,270 (GRCm39)	V193I	probably benign	Het
Clec4a3	G	A	6: 122,943,479 (GRCm39)	E100K	possibly damaging	Het
Cntln	C	T	4: 84,986,110 (GRCm39)	T1026I	possibly damaging	Het
Cyp4v3	T	A	8: 45,761,564 (GRCm39)	I420F	probably benign	Het
Dcbld2	G	A	16: 58,271,125 (GRCm39)	A301T		Het
Dnah1	A	T	14: 31,007,950 (GRCm39)	D2152E	probably benign	Het
Dpy19l4	A	G	4: 11,290,195 (GRCm39)	V179A	probably benign	Het
Dusp4	T	A	8: 35,284,462 (GRCm39)	I259N	probably damaging	Het
Enpp1	T	A	10: 24,544,926 (GRCm39)	I318F	probably benign	Het
Entpd6	T	C	2: 150,595,005 (GRCm39)	V15A	possibly damaging	Het
Epb41l1	C	G	2: 156,363,923 (GRCm39)	Q811E	probably benign	Het
Epb41l5	T	C	1: 119,570,292 (GRCm39)	H32R	probably damaging	Het
Fam135b	C	T	15: 71,334,063 (GRCm39)	V1044I	possibly damaging	Het
Fat4	A	T	3: 39,037,778 (GRCm39)	H3810L	probably benign	Het
Fbxw28	T	A	9: 109,167,857 (GRCm39)		probably null	Het
Flnb	T	G	14: 7,892,874 (GRCm38)	V648G	probably damaging	Het
Flnb	T	A	14: 7,904,688 (GRCm38)	Y1030*	probably null	Het
Fndc3a	T	C	14: 72,794,410 (GRCm39)	T787A	probably benign	Het
Gli2	T	A	1: 118,783,187 (GRCm39)	H106L	probably damaging	Het
Gm10283	T	A	8: 60,954,390 (GRCm39)		probably null	Het
Gm3336	C	T	8: 71,174,545 (GRCm39)	R67*	probably null	Het
Gsr	T	G	8: 34,183,936 (GRCm39)	I399M	possibly damaging	Het
Gtf2ird2	T	A	5: 134,245,596 (GRCm39)	M618K	probably damaging	Het
Gtf3c3	T	A	1: 54,462,722 (GRCm39)	D347V	probably benign	Het
Hspa12a	T	C	19: 58,788,058 (GRCm39)	Y588C	probably damaging	Het
Il20ra	A	G	10: 19,635,160 (GRCm39)	E467G	possibly damaging	Het
Inf2	A	G	12: 112,576,998 (GRCm39)	I991V	unknown	Het
Irag2	A	T	6: 145,117,390 (GRCm39)	M376L	probably benign	Het
Irx6	T	C	8: 93,405,040 (GRCm39)	C303R	probably damaging	Het
Kcnmb4	T	A	10: 116,309,381 (GRCm39)	K16*	probably null	Het
Kirrel3	T	C	9: 34,855,738 (GRCm39)	L86P	probably damaging	Het
Lipo5	A	C	19: 33,450,530 (GRCm39)	F21V		Het
Lrrc31	T	A	3: 30,733,267 (GRCm39)	R482S	probably benign	Het
Lrrc3b	C	T	14: 15,358,159 (GRCm38)	C149Y	probably damaging	Het
Lrrk1	A	G	7: 65,919,573 (GRCm39)	M446T	probably benign	Het
Macroh2a2	A	T	10: 61,593,610 (GRCm39)	I22N	probably damaging	Het
Mettl14	C	T	3: 123,167,693 (GRCm39)	D222N	probably benign	Het
Mfsd4b3-ps	G	A	10: 39,824,072 (GRCm39)	H63Y	probably benign	Het
Myo16	T	C	8: 10,426,175 (GRCm39)	W311R	probably damaging	Het
Nccrp1	A	T	7: 28,245,628 (GRCm39)	N151K	probably benign	Het
Obsl1	T	C	1: 75,480,493 (GRCm39)	D377G	probably damaging	Het
Or5b97	T	A	19: 12,878,578 (GRCm39)	T189S	probably benign	Het
Or5p80	T	A	7: 108,229,506 (GRCm39)	C102*	probably null	Het
Or7c19	T	A	8: 85,957,913 (GRCm39)	I263N	probably benign	Het
Or7c70	G	T	10: 78,683,576 (GRCm39)	P58T	probably damaging	Het
Pigb	T	C	9: 72,945,983 (GRCm39)	N63S	probably damaging	Het
Plch2	T	C	4: 155,077,023 (GRCm39)	E577G	probably benign	Het
Prkab2	T	C	3: 97,573,943 (GRCm39)	V194A	probably benign	Het
Psd3	T	C	8: 68,416,461 (GRCm39)	I479V	probably benign	Het
Ralgapb	C	A	2: 158,279,264 (GRCm39)	P117T	probably benign	Het
Ralgapb	C	G	2: 158,337,389 (GRCm39)	T1116R	probably damaging	Het
Rpap2	T	A	5: 107,768,361 (GRCm39)	S400T	possibly damaging	Het
Rps20	T	A	4: 3,834,617 (GRCm39)	M82L	probably benign	Het
Rps5	T	C	7: 12,659,440 (GRCm39)	M77T	possibly damaging	Het
Scaf11	A	G	15: 96,318,371 (GRCm39)	S398P	probably damaging	Het
Sdf2	T	A	11: 78,145,763 (GRCm39)	D153E	probably benign	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc12a9	T	C	5: 137,329,270 (GRCm39)	N128S	probably damaging	Het
Slc25a32	C	A	15: 38,960,946 (GRCm39)	G246C	probably damaging	Het
Slc38a4	C	T	15: 96,914,662 (GRCm39)	A64T	probably benign	Het
Slit3	T	C	11: 35,589,207 (GRCm39)	V1254A	probably damaging	Het
Slx4	T	C	16: 3,808,111 (GRCm39)	K481R	probably benign	Het
Tcea1	A	G	1: 4,959,732 (GRCm39)	T136A	probably benign	Het
Thra	A	G	11: 98,644,449 (GRCm39)	D13G	possibly damaging	Het
Tmed9	G	A	13: 55,744,775 (GRCm39)	S227N	probably benign	Het
Trim80	C	A	11: 115,331,538 (GRCm39)	T20K	probably benign	Het
Trmt61a	G	T	12: 111,649,256 (GRCm39)	V276L	probably benign	Het
Trpc4ap	T	C	2: 155,508,171 (GRCm39)	D160G	possibly damaging	Het
Ubr5	C	T	15: 38,029,825 (GRCm39)	E467K		Het
Vars2	C	A	17: 35,972,541 (GRCm39)	G26W	probably damaging	Het
Vmn1r226	G	T	17: 20,908,287 (GRCm39)	R173L	possibly damaging	Het
Vmn1r29	G	T	6: 58,284,284 (GRCm39)	M1I	probably null	Het
Vmn2r3	G	T	3: 64,168,803 (GRCm39)	P578Q	possibly damaging	Het
Vmn2r57	A	T	7: 41,049,571 (GRCm39)	I726N	possibly damaging	Het
Zfp39	A	T	11: 58,780,946 (GRCm39)	Y605*	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
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'- GGGAATCTGAGAAACAATTCTTTTGGC -3'
(R):5'- CAGCAGCAGACCAGCATATG -3'

Sequencing Primer
(F):5'- GGCATACATGAAGTATTGGCTGACTC -3'
(R):5'- GCAGCAGACCAGCATATGTTTAC -3'

Posted On

2021-08-31