Incidental Mutation 'IGL02584:Cnrip1'
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ID299473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnrip1
Ensembl Gene ENSMUSG00000044629
Gene Namecannabinoid receptor interacting protein 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL02584
Quality Score
Status
Chromosome11
Chromosomal Location17051586-17079371 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 17078536 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 156 (M156K)
Ref Sequence ENSEMBL: ENSMUSP00000050036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058159]
Predicted Effect probably damaging
Transcript: ENSMUST00000058159
AA Change: M156K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000050036
Gene: ENSMUSG00000044629
AA Change: M156K

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik A T 16: 89,174,856 Y22F unknown Het
Adgrb3 A G 1: 25,504,984 L312P probably damaging Het
Anpep T C 7: 79,825,393 probably benign Het
Arhgef6 T G X: 57,246,378 probably benign Het
Catsperg1 T C 7: 29,184,721 D989G probably damaging Het
Ccnj T A 19: 40,844,741 V121E probably benign Het
Cdyl T C 13: 35,683,786 L15P probably benign Het
Cryga T A 1: 65,103,016 S73C probably benign Het
Dennd4a A G 9: 64,851,298 T240A probably damaging Het
Eml6 A G 11: 29,749,387 S1789P probably damaging Het
Esr2 A T 12: 76,145,262 W331R probably damaging Het
Fbxo18 A T 2: 11,759,958 L455H probably benign Het
Gm21698 T A 5: 25,987,393 E65V probably damaging Het
Grm8 G T 6: 27,762,439 F262L probably benign Het
Haus3 A T 5: 34,166,258 L336* probably null Het
Hfm1 A C 5: 106,878,662 probably null Het
Hgfac T C 5: 35,043,961 probably benign Het
Ighv1-22 T C 12: 114,746,322 E101G probably benign Het
Impg2 A G 16: 56,265,011 E1027G probably damaging Het
Lypd5 A T 7: 24,353,568 T217S possibly damaging Het
Myrf A G 19: 10,212,223 probably benign Het
Mzf1 A G 7: 13,052,817 W109R probably damaging Het
Ndufb4 A T 16: 37,649,170 probably benign Het
Ntn1 A G 11: 68,277,530 V367A probably damaging Het
Olfr1029 C T 2: 85,975,875 L211F probably damaging Het
Oprk1 A G 1: 5,598,604 K91R probably damaging Het
Pdlim1 A G 19: 40,243,400 probably null Het
Ppp1r11 G A 17: 36,949,889 R61C probably damaging Het
Racgap1 T C 15: 99,623,634 D547G probably benign Het
Sema4b A G 7: 80,224,988 T709A probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Supt5 T C 7: 28,326,167 H218R probably benign Het
Tmem132c T A 5: 127,504,999 I426N probably damaging Het
Tpcn1 T C 5: 120,539,032 N696S probably damaging Het
Ttn T C 2: 76,736,162 N26383S possibly damaging Het
Vax2 A G 6: 83,711,513 T73A probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Cnrip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02188:Cnrip1 APN 11 17078398 critical splice acceptor site probably null
IGL02701:Cnrip1 APN 11 17078415 missense probably benign 0.00
Neighborly UTSW 11 17078539 nonsense probably null
R2093:Cnrip1 UTSW 11 17052237 missense probably damaging 0.99
R3791:Cnrip1 UTSW 11 17054845 intron probably benign
R4960:Cnrip1 UTSW 11 17052228 missense probably damaging 1.00
R5068:Cnrip1 UTSW 11 17054687 missense probably damaging 0.98
R6169:Cnrip1 UTSW 11 17054731 missense probably null 0.99
R6423:Cnrip1 UTSW 11 17052350 critical splice donor site probably null
R6520:Cnrip1 UTSW 11 17078536 missense probably damaging 0.99
R6562:Cnrip1 UTSW 11 17078539 nonsense probably null
R6897:Cnrip1 UTSW 11 17054705 missense probably damaging 1.00
R7338:Cnrip1 UTSW 11 17054657 missense probably damaging 0.98
Posted On2015-04-16