Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02188:Cnrip1'

283759

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cnrip1

Ensembl Gene

ENSMUSG00000044629

Gene Name

cannabinoid receptor interacting protein 1

Synonyms

1500041B16Rik, 3110054C06Rik, 5330437A18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL02188

Quality Score

Status

Chromosome

Chromosomal Location

17001859-17029372 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 17028398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000050036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058159] [ENSMUST00000058159] [ENSMUST00000058159]

AlphaFold

Q5M8N0

Predicted Effect

probably null
Transcript: ENSMUST00000058159

SMART Domains

Protein: ENSMUSP00000050036
Gene: ENSMUSG00000044629

Domain	Start	End	E-Value	Type
Pfam:CNRIP1	1	164	2.3e-80	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000058159

SMART Domains

Protein: ENSMUSP00000050036
Gene: ENSMUSG00000044629

Domain	Start	End	E-Value	Type
Pfam:CNRIP1	1	164	2.3e-80	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000058159

SMART Domains

Protein: ENSMUSP00000050036
Gene: ENSMUSG00000044629

Domain	Start	End	E-Value	Type
Pfam:CNRIP1	1	164	2.3e-80	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the C-terminal tail of cannabinoid receptor 1. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1	A	G	5: 36,093,421 (GRCm39)	N56S	probably benign	Het
Asb18	A	G	1: 89,924,021 (GRCm39)	C81R	probably benign	Het
Ccl25	A	C	8: 4,398,552 (GRCm39)		probably benign	Het
Cdh13	A	G	8: 119,578,500 (GRCm39)	T176A	probably benign	Het
Dnmt1	A	T	9: 20,853,034 (GRCm39)	C62*	probably null	Het
Eepd1	T	C	9: 25,493,188 (GRCm39)	F311L	probably benign	Het
Extl3	A	G	14: 65,313,154 (GRCm39)	L676P	probably damaging	Het
F13a1	A	G	13: 37,090,035 (GRCm39)		probably benign	Het
Galnt12	C	T	4: 47,122,521 (GRCm39)	R267W	probably damaging	Het
Gm5150	T	A	3: 16,017,826 (GRCm39)	K148N	possibly damaging	Het
Haus8	G	T	8: 71,710,059 (GRCm39)	A51E	probably damaging	Het
Hyal5	T	C	6: 24,877,035 (GRCm39)	Y303H	probably damaging	Het
Itga5	C	T	15: 103,256,144 (GRCm39)	R936H	probably benign	Het
Itgb4	A	G	11: 115,894,213 (GRCm39)	N1282S	probably benign	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Matn4	C	T	2: 164,242,786 (GRCm39)	R104H	probably benign	Het
Mideas	T	C	12: 84,209,100 (GRCm39)	I667M	probably benign	Het
Myg1	T	C	15: 102,245,876 (GRCm39)	I238T	probably benign	Het
Myo7a	C	T	7: 97,740,234 (GRCm39)	A598T	probably damaging	Het
Nbea	T	A	3: 55,891,258 (GRCm39)	I1604L	probably benign	Het
Nfx1	G	A	4: 40,993,827 (GRCm39)	G547R	probably damaging	Het
Or5b113	A	T	19: 13,342,396 (GRCm39)	M135L	probably benign	Het
Or5b113	A	T	19: 13,342,643 (GRCm39)	Y217F	probably damaging	Het
Pelp1	T	A	11: 70,300,718 (GRCm39)	I41F	unknown	Het
Pla2g2f	T	C	4: 138,479,518 (GRCm39)		probably benign	Het
Rab19	T	A	6: 39,360,968 (GRCm39)	S39T	probably benign	Het
Samd8	T	C	14: 21,833,866 (GRCm39)		probably null	Het
Sec16a	T	C	2: 26,326,020 (GRCm39)	D1219G	probably damaging	Het
Slc2a4	C	T	11: 69,837,156 (GRCm39)	M1I	probably null	Het
Slc44a1	T	C	4: 53,541,361 (GRCm39)	V273A	probably benign	Het
Spata31f1e	T	A	4: 42,791,994 (GRCm39)		probably null	Het
Svep1	T	C	4: 58,068,382 (GRCm39)	T3135A	possibly damaging	Het
Tnnc1	T	C	14: 30,932,617 (GRCm39)	L100P	possibly damaging	Het
Ubr3	C	T	2: 69,789,955 (GRCm39)	R870*	probably null	Het
Usp28	T	C	9: 48,935,309 (GRCm39)	S87P	probably benign	Het
Xylt1	T	A	7: 117,233,964 (GRCm39)	V497E	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Cnrip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02584:Cnrip1	APN	11	17,028,536 (GRCm39)	missense	probably damaging	0.99
IGL02701:Cnrip1	APN	11	17,028,415 (GRCm39)	missense	probably benign	0.00
Neighborly	UTSW	11	17,028,539 (GRCm39)	nonsense	probably null
R2093:Cnrip1	UTSW	11	17,002,237 (GRCm39)	missense	probably damaging	0.99
R3791:Cnrip1	UTSW	11	17,004,845 (GRCm39)	intron	probably benign
R4960:Cnrip1	UTSW	11	17,002,228 (GRCm39)	missense	probably damaging	1.00
R5068:Cnrip1	UTSW	11	17,004,687 (GRCm39)	missense	probably damaging	0.98
R6169:Cnrip1	UTSW	11	17,004,731 (GRCm39)	missense	probably null	0.99
R6423:Cnrip1	UTSW	11	17,002,350 (GRCm39)	critical splice donor site	probably null
R6520:Cnrip1	UTSW	11	17,028,536 (GRCm39)	missense	probably damaging	0.99
R6562:Cnrip1	UTSW	11	17,028,539 (GRCm39)	nonsense	probably null
R6897:Cnrip1	UTSW	11	17,004,705 (GRCm39)	missense	probably damaging	1.00
R7338:Cnrip1	UTSW	11	17,004,657 (GRCm39)	missense	probably damaging	0.98
R8920:Cnrip1	UTSW	11	17,005,003 (GRCm39)	missense	unknown
R9214:Cnrip1	UTSW	11	17,004,740 (GRCm39)	missense	probably damaging	0.97
R9792:Cnrip1	UTSW	11	17,004,812 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16