Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02701:Cnrip1'

304146

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 #

IGL02701

Quality Score

Status

Chromosome

Chromosomal Location

17001859-17029372 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17028415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 116 (T116A)

Ref Sequence

ENSEMBL: ENSMUSP00000050036 (fasta)

Gene Model

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

AlphaFold

Q5M8N0

Predicted Effect

probably benign
Transcript: ENSMUST00000058159
AA Change: T116A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000050036
Gene: ENSMUSG00000044629
AA Change: T116A

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	A	G	2: 20,896,902 (GRCm39)	C125R	probably damaging	Het
Blmh	A	G	11: 76,862,736 (GRCm39)	D383G	probably benign	Het
Brca1	T	C	11: 101,416,061 (GRCm39)	E691G	probably damaging	Het
Chrm3	G	A	13: 9,928,500 (GRCm39)	R179*	probably null	Het
Csmd2	T	C	4: 128,389,934 (GRCm39)	V2223A	probably benign	Het
Dalrd3	T	A	9: 108,449,483 (GRCm39)	V143D	possibly damaging	Het
Ddx60	A	T	8: 62,432,375 (GRCm39)	I886L	probably damaging	Het
Dennd4a	T	C	9: 64,804,635 (GRCm39)	F1325L	possibly damaging	Het
Dnmt3l	A	T	10: 77,890,856 (GRCm39)	T253S	probably benign	Het
Fads2b	A	G	2: 85,314,513 (GRCm39)	L480P	probably damaging	Het
Ftdc1	G	A	16: 58,436,170 (GRCm39)	S51L	probably benign	Het
Gde1	T	A	7: 118,297,860 (GRCm39)	T9S	probably damaging	Het
Ggcx	T	A	6: 72,395,455 (GRCm39)		probably benign	Het
Hspg2	C	T	4: 137,284,485 (GRCm39)	A3481V	probably damaging	Het
Igf1r	T	C	7: 67,850,997 (GRCm39)	Y931H	possibly damaging	Het
Ighv12-3	A	C	12: 114,330,421 (GRCm39)	S25A	probably damaging	Het
Itga5	A	C	15: 103,256,193 (GRCm39)	C920G	probably damaging	Het
Kmt5b	A	G	19: 3,846,681 (GRCm39)	D118G	probably benign	Het
Lrp1b	T	G	2: 41,136,029 (GRCm39)	N1647T	possibly damaging	Het
Lrrc71	T	C	3: 87,649,079 (GRCm39)	E363G	probably benign	Het
Mapk1	A	G	16: 16,833,770 (GRCm39)	Y41C	probably benign	Het
Mib1	T	C	18: 10,747,357 (GRCm39)	V178A	probably damaging	Het
Or13c7d	A	G	4: 43,770,366 (GRCm39)	I215T	probably benign	Het
Or5m10b	A	G	2: 85,699,802 (GRCm39)	I289V	probably benign	Het
Or5p52	A	T	7: 107,502,649 (GRCm39)	T242S	probably benign	Het
Plb1	T	C	5: 32,521,541 (GRCm39)	V1464A	unknown	Het
Plekhg5	T	C	4: 152,187,479 (GRCm39)	S82P	probably damaging	Het
Plxna4	T	C	6: 32,494,494 (GRCm39)	T41A	probably benign	Het
Ppip5k1	A	C	2: 121,147,130 (GRCm39)		probably null	Het
Pttg1ip2	A	G	5: 5,516,623 (GRCm39)		probably null	Het
Rpl14	T	C	9: 120,402,639 (GRCm39)		probably benign	Het
Slc44a2	T	C	9: 21,259,247 (GRCm39)	F554L	probably benign	Het
Slco1b2	T	A	6: 141,631,271 (GRCm39)	V635E	probably benign	Het
Sv2a	T	A	3: 96,094,447 (GRCm39)	C261S	probably damaging	Het
Thbs2	T	C	17: 14,903,623 (GRCm39)	I353V	probably benign	Het
Tspan4	G	A	7: 141,071,941 (GRCm39)	V205M	probably damaging	Het
Vezf1	A	T	11: 87,967,047 (GRCm39)	R93*	probably null	Het
Wwox	T	A	8: 115,433,108 (GRCm39)	V258D	probably damaging	Het
Zmynd12	G	T	4: 119,301,952 (GRCm39)		probably benign	Het

Other mutations in Cnrip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02188:Cnrip1	APN	11	17,028,398 (GRCm39)	critical splice acceptor site	probably null
IGL02584:Cnrip1	APN	11	17,028,536 (GRCm39)	missense	probably damaging	0.99
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