Mutagenetix > Incidental Mutation

Incidental Mutation 'R4976:Rpgrip1l'

382673

Institutional Source

Beutler Lab

Gene Symbol

Rpgrip1l

Ensembl Gene

ENSMUSG00000033282

Gene Name

Rpgrip1-like

Synonyms

Nphp8, 1700047E16Rik, Ftm, fantom

MMRRC Submission

042571-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4976 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91943658-92039890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92007444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 382 (E382G)

Ref Sequence

ENSEMBL: ENSMUSP00000042702 (fasta)

Gene Model

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

AlphaFold

Q8CG73

Predicted Effect

probably damaging
Transcript: ENSMUST00000047783
AA Change: E382G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042702
Gene: ENSMUSG00000033282
AA Change: E382G

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

noncoding transcript
Transcript: ENSMUST00000136198

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

noncoding transcript
Transcript: ENSMUST00000211185

Meta Mutation Damage Score

0.1120

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 90.4%

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 61,001,387 (GRCm39)	Y113*	probably null	Het
Abcc2	C	T	19: 43,789,074 (GRCm39)	T243M	probably benign	Het
Actr6	A	T	10: 89,561,717 (GRCm39)	L143Q	probably damaging	Het
Adamts18	A	G	8: 114,425,642 (GRCm39)	Y1207H	probably benign	Het
Adamts2	A	G	11: 50,628,193 (GRCm39)	I298V	possibly damaging	Het
Adamts6	T	A	13: 104,433,998 (GRCm39)	S142R	probably damaging	Het
Adat2	A	T	10: 13,432,650 (GRCm39)	N51Y	probably damaging	Het
Alg6	G	A	4: 99,638,965 (GRCm39)		probably null	Het
Aoc3	T	A	11: 101,221,800 (GRCm39)	L12Q	probably damaging	Het
Aox3	G	A	1: 58,227,683 (GRCm39)		probably null	Het
Atp2b2	T	A	6: 113,736,122 (GRCm39)	I986F	probably damaging	Het
Axin1	G	T	17: 26,413,045 (GRCm39)	Q779H	probably benign	Het
Axin1	A	T	17: 26,413,044 (GRCm39)	Q779L	probably benign	Het
Bltp3a	T	C	17: 28,103,000 (GRCm39)	S345P	probably damaging	Het
Btaf1	T	C	19: 36,963,979 (GRCm39)	V850A	probably benign	Het
Camsap2	A	G	1: 136,232,124 (GRCm39)	V157A	probably damaging	Het
Ccdc191	T	C	16: 43,763,868 (GRCm39)	V443A	probably benign	Het
Cd1d1	T	A	3: 86,905,958 (GRCm39)	M106L	probably benign	Het
Cenpe	A	G	3: 134,940,637 (GRCm39)	D632G	probably damaging	Het
Cnih2	T	A	19: 5,143,957 (GRCm39)		probably null	Het
Crnkl1	G	T	2: 145,765,796 (GRCm39)	Q425K	possibly damaging	Het
Crnn	T	A	3: 93,055,990 (GRCm39)	S259T	probably benign	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Ctc1	G	T	11: 68,918,152 (GRCm39)	G425C	probably damaging	Het
Dctn4	T	A	18: 60,689,464 (GRCm39)	I445N	probably benign	Het
Dnah7a	A	T	1: 53,737,851 (GRCm39)	D27E	probably benign	Het
Dock10	A	T	1: 80,545,711 (GRCm39)		probably null	Het
Dst	A	T	1: 34,235,050 (GRCm39)	K3710*	probably null	Het
Ecel1	T	A	1: 87,078,861 (GRCm39)	Y526F	probably benign	Het
Elp6	C	T	9: 110,143,141 (GRCm39)	P118L	probably damaging	Het
Enpp2	T	A	15: 54,733,701 (GRCm39)	R420*	probably null	Het
Ep400	A	G	5: 110,846,678 (GRCm39)	F1480L	unknown	Het
Ep400	T	C	5: 110,868,622 (GRCm39)	E934G	unknown	Het
Epb41	A	C	4: 131,664,747 (GRCm39)		probably benign	Het
Epha5	A	T	5: 84,232,683 (GRCm39)	V777E	probably damaging	Het
Erp44	A	T	4: 48,208,797 (GRCm39)	M221K	probably benign	Het
Esp36	T	C	17: 38,728,177 (GRCm39)	T35A	possibly damaging	Het
Flvcr1	T	C	1: 190,757,692 (GRCm39)	Q158R	probably damaging	Het
Fsip2	A	T	2: 82,818,535 (GRCm39)	D4756V	probably damaging	Het
Fzd10	T	A	5: 128,679,178 (GRCm39)	Y299*	probably null	Het
Gabrg1	C	A	5: 70,931,754 (GRCm39)	V330L	possibly damaging	Het
Gata4	A	T	14: 63,441,138 (GRCm39)	N87K	probably damaging	Het
Gdpd3	A	T	7: 126,366,454 (GRCm39)	N97I	probably damaging	Het
Gm28042	G	A	2: 119,865,124 (GRCm39)	A250T	probably damaging	Het
Golim4	T	C	3: 75,785,950 (GRCm39)		probably null	Het
Gpr183	G	T	14: 122,192,275 (GRCm39)	T82N	possibly damaging	Het
Hsd17b4	T	C	18: 50,293,202 (GRCm39)	L247S	probably damaging	Het
Hsdl1	T	A	8: 120,292,606 (GRCm39)	Y203F	possibly damaging	Het
Igkv17-121	A	G	6: 68,014,068 (GRCm39)	K40R	probably benign	Het
Igsf3	T	A	3: 101,346,677 (GRCm39)		probably null	Het
Ints1	C	A	5: 139,738,566 (GRCm39)	G110C	probably damaging	Het
Klhdc8b	A	T	9: 108,328,386 (GRCm39)	V22E	probably damaging	Het
Kmt2d	G	A	15: 98,745,075 (GRCm39)		probably benign	Het
Kpna2	C	T	11: 106,882,295 (GRCm39)	G204S	probably damaging	Het
Ktn1	G	A	14: 47,907,756 (GRCm39)		probably null	Het
Ldah	G	A	12: 8,277,237 (GRCm39)	A58T	probably benign	Het
Lmx1a	G	T	1: 167,619,123 (GRCm39)	A161S	possibly damaging	Het
Lrig1	T	C	6: 94,602,043 (GRCm39)	Y270C	probably damaging	Het
Lrrc24	T	C	15: 76,600,200 (GRCm39)	Q313R	probably benign	Het
Ltbp1	T	C	17: 75,628,090 (GRCm39)		probably null	Het
Luzp1	A	G	4: 136,270,708 (GRCm39)	D977G	possibly damaging	Het
Mbd4	T	C	6: 115,827,685 (GRCm39)	T43A	possibly damaging	Het
Meak7	A	C	8: 120,494,882 (GRCm39)	L292R	probably damaging	Het
Meltf	T	C	16: 31,713,532 (GRCm39)	S592P	probably benign	Het
Mrgpra4	A	G	7: 47,631,466 (GRCm39)	L45P	probably damaging	Het
Mrpl39	A	G	16: 84,531,293 (GRCm39)		probably null	Het
Myocd	T	C	11: 65,112,876 (GRCm39)	T79A	probably benign	Het
Myt1l	A	G	12: 29,882,302 (GRCm39)	E499G	unknown	Het
Ncan	C	T	8: 70,567,675 (GRCm39)	E146K	probably damaging	Het
Ncoa3	T	A	2: 165,889,820 (GRCm39)	D68E	probably damaging	Het
Nt5m	T	A	11: 59,765,381 (GRCm39)	Y136*	probably null	Het
Or10h5	C	T	17: 33,434,728 (GRCm39)	A200T	probably benign	Het
Or4c12	A	T	2: 89,774,147 (GRCm39)	I104N	possibly damaging	Het
Or51m1	A	T	7: 103,578,944 (GRCm39)	I305F	probably benign	Het
Or5p66	A	C	7: 107,885,818 (GRCm39)	C172G	probably damaging	Het
Or7g21	G	A	9: 19,032,797 (GRCm39)	C179Y	probably damaging	Het
Pak6	A	T	2: 118,525,029 (GRCm39)	I552F	probably damaging	Het
Pcyox1	T	A	6: 86,365,708 (GRCm39)	K502M	probably damaging	Het
Phyhipl	A	T	10: 70,404,904 (GRCm39)	D56E	probably damaging	Het
Ppp2r2a	A	T	14: 67,254,086 (GRCm39)	S361T	possibly damaging	Het
Prim1	A	T	10: 127,851,131 (GRCm39)	D5V	probably damaging	Het
Prl7a1	A	T	13: 27,817,564 (GRCm39)	H233Q	possibly damaging	Het
Prpf40a	A	G	2: 53,034,861 (GRCm39)	F776L	probably damaging	Het
Psmb1	T	C	17: 15,718,524 (GRCm39)	M1V	probably null	Het
Reln	T	A	5: 22,176,868 (GRCm39)	N1933Y	probably benign	Het
Retsat	T	A	6: 72,578,609 (GRCm39)	M107K	probably damaging	Het
Rhbdl1	C	T	17: 26,054,002 (GRCm39)	W289*	probably null	Het
Rlf	G	A	4: 121,004,652 (GRCm39)	H1443Y	probably damaging	Het
Rprd2	T	A	3: 95,673,661 (GRCm39)	T497S	probably damaging	Het
Rps6kc1	T	C	1: 190,530,924 (GRCm39)	T936A	probably damaging	Het
Scgb1b10	A	G	7: 31,800,609 (GRCm39)	Q66R	possibly damaging	Het
Scrib	C	T	15: 75,923,602 (GRCm39)		probably null	Het
Setbp1	T	A	18: 79,129,927 (GRCm39)	T102S	probably damaging	Het
Shox2	T	C	3: 66,881,008 (GRCm39)		probably benign	Het
Skp1	C	A	11: 52,134,458 (GRCm39)	T63N	probably benign	Het
Slc10a6	C	T	5: 103,754,470 (GRCm39)	V354M	probably benign	Het
Slc35f3	T	C	8: 127,116,020 (GRCm39)		probably null	Het
Slc8b1	T	A	5: 120,663,740 (GRCm39)	L320*	probably null	Het
Snap29	T	A	16: 17,237,132 (GRCm39)	L81Q	probably damaging	Het
Sorl1	A	G	9: 41,894,299 (GRCm39)	I1837T	probably benign	Het
Spmip4	T	A	6: 50,566,164 (GRCm39)		probably null	Het
Tacr3	A	G	3: 134,638,033 (GRCm39)	T397A	probably benign	Het
Tcte1	T	C	17: 45,845,854 (GRCm39)	F153L	probably damaging	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Tmprss4	A	G	9: 45,084,706 (GRCm39)	S433P	possibly damaging	Het
Tpcn1	T	C	5: 120,698,387 (GRCm39)	H45R	probably benign	Het
Vps13d	A	G	4: 144,832,468 (GRCm39)	S2813P	possibly damaging	Het
Wdfy3	C	T	5: 102,090,985 (GRCm39)	D532N	probably benign	Het
Zbed6	T	C	1: 133,585,832 (GRCm39)	T502A	probably benign	Het
Zfp277	A	G	12: 40,378,687 (GRCm39)	V390A	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GGGAATCTGAGAAACAATTCTTTTGGC -3'
(R):5'- GGTTTCAACAGCAGCAGACC -3'

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

Posted On

2016-04-27