Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01781:Rpgrip1l'

153914

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 #

IGL01781

Quality Score

Status

Chromosome

Chromosomal Location

91943658-92039890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91996846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 76 (V76A)

Ref Sequence

ENSEMBL: ENSMUSP00000147300 (fasta)

Gene Model

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

AlphaFold

Q8CG73

Predicted Effect

probably benign
Transcript: ENSMUST00000047783
AA Change: V678A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000042702
Gene: ENSMUSG00000033282
AA Change: V678A

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

probably benign
Transcript: ENSMUST00000209616
AA Change: V76A

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

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
Abca13	T	A	11: 9,349,280 (GRCm39)	I3618N	probably damaging	Het
Acss1	A	G	2: 150,479,792 (GRCm39)	L305P	probably damaging	Het
Alox12e	A	T	11: 70,212,282 (GRCm39)	L132Q	probably damaging	Het
Atp6v0a4	T	C	6: 38,051,095 (GRCm39)	N428D	possibly damaging	Het
Ccdc80	C	T	16: 44,946,493 (GRCm39)	H811Y	probably damaging	Het
Cgn	T	C	3: 94,680,515 (GRCm39)	M596V	probably benign	Het
Cpn1	T	A	19: 43,954,657 (GRCm39)	E323V	possibly damaging	Het
Cul9	A	G	17: 46,850,230 (GRCm39)	S447P	probably benign	Het
Cyp2f2	A	T	7: 26,829,846 (GRCm39)	Y182F	probably benign	Het
Dnajc13	T	C	9: 104,039,558 (GRCm39)	M2104V	possibly damaging	Het
Eri3	T	C	4: 117,421,874 (GRCm39)	F51L	probably benign	Het
Fgd5	A	G	6: 91,965,698 (GRCm39)	S486G	possibly damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Ifna4	T	C	4: 88,760,389 (GRCm39)	S98P	probably damaging	Het
Impg2	A	G	16: 56,072,588 (GRCm39)	K340R	probably benign	Het
Man2b2	T	C	5: 36,971,089 (GRCm39)	N759S	possibly damaging	Het
Mfsd1	A	G	3: 67,495,244 (GRCm39)		probably benign	Het
Or2d36	T	A	7: 106,746,903 (GRCm39)	C127S	probably damaging	Het
Pdcd6ip	G	T	9: 113,520,566 (GRCm39)	N139K	probably damaging	Het
Peak1	A	T	9: 56,167,349 (GRCm39)	I193N	possibly damaging	Het
Pip4p2	T	C	4: 14,893,566 (GRCm39)	L143S	probably damaging	Het
Pramel28	C	A	4: 143,692,299 (GRCm39)	C234F	probably benign	Het
Psg27	T	A	7: 18,298,989 (GRCm39)	T111S	probably damaging	Het
Ptprs	G	A	17: 56,742,676 (GRCm39)	L489F	probably damaging	Het
Scd1	A	T	19: 44,388,787 (GRCm39)	M221K	possibly damaging	Het
Slc38a7	A	G	8: 96,570,386 (GRCm39)		probably null	Het
Spon2	T	C	5: 33,372,904 (GRCm39)	D266G	probably benign	Het
Spry4	C	T	18: 38,723,478 (GRCm39)	G95D	probably damaging	Het
Supt20	A	G	3: 54,602,626 (GRCm39)	M1V	probably null	Het
Trappc11	A	C	8: 47,967,163 (GRCm39)	F404V	possibly damaging	Het
Vmn1r178	C	A	7: 23,593,434 (GRCm39)	Q161K	probably damaging	Het
Vmn2r25	T	C	6: 123,816,324 (GRCm39)	E419G	possibly damaging	Het
Vstm5	A	G	9: 15,168,968 (GRCm39)	H146R	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
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
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

2014-02-04