Incidental Mutation 'IGL02701:Cnrip1'
ID 304146
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnrip1
Ensembl Gene ENSMUSG00000044629
Gene Name cannabinoid receptor interacting protein 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL02701
Quality Score
Status
Chromosome 11
Chromosomal Location 17051586-17079371 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17078415 bp (GRCm38)
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

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik A G 5: 5,466,623 probably null Het
4833423E24Rik A G 2: 85,484,169 L480P probably damaging Het
Arhgap21 A G 2: 20,892,091 C125R probably damaging Het
Blmh A G 11: 76,971,910 D383G probably benign Het
Brca1 T C 11: 101,525,235 E691G probably damaging Het
Chrm3 G A 13: 9,878,464 R179* probably null Het
Csmd2 T C 4: 128,496,141 V2223A probably benign Het
Dalrd3 T A 9: 108,572,284 V143D possibly damaging Het
Ddx60 A T 8: 61,979,341 I886L probably damaging Het
Dennd4a T C 9: 64,897,353 F1325L possibly damaging Het
Dnmt3l A T 10: 78,055,022 T253S probably benign Het
Gde1 T A 7: 118,698,637 T9S probably damaging Het
Ggcx T A 6: 72,418,472 probably benign Het
Gm813 G A 16: 58,615,807 S51L probably benign Het
Hspg2 C T 4: 137,557,174 A3481V probably damaging Het
Igf1r T C 7: 68,201,249 Y931H possibly damaging Het
Ighv12-3 A C 12: 114,366,801 S25A probably damaging Het
Itga5 A C 15: 103,347,766 C920G probably damaging Het
Kmt5b A G 19: 3,796,681 D118G probably benign Het
Lrp1b T G 2: 41,246,017 N1647T possibly damaging Het
Lrrc71 T C 3: 87,741,772 E363G probably benign Het
Mapk1 A G 16: 17,015,906 Y41C probably benign Het
Mib1 T C 18: 10,747,357 V178A probably damaging Het
Olfr1022 A G 2: 85,869,458 I289V probably benign Het
Olfr159 A G 4: 43,770,366 I215T probably benign Het
Olfr472 A T 7: 107,903,442 T242S probably benign Het
Plb1 T C 5: 32,364,197 V1464A unknown Het
Plekhg5 T C 4: 152,103,022 S82P probably damaging Het
Plxna4 T C 6: 32,517,559 T41A probably benign Het
Ppip5k1 A C 2: 121,316,649 probably null Het
Rpl14 T C 9: 120,573,573 probably benign Het
Slc44a2 T C 9: 21,347,951 F554L probably benign Het
Slco1b2 T A 6: 141,685,545 V635E probably benign Het
Sv2a T A 3: 96,187,131 C261S probably damaging Het
Thbs2 T C 17: 14,683,361 I353V probably benign Het
Tspan4 G A 7: 141,492,028 V205M probably damaging Het
Vezf1 A T 11: 88,076,221 R93* probably null Het
Wwox T A 8: 114,706,368 V258D probably damaging Het
Zmynd12 G T 4: 119,444,755 probably benign Het
Other mutations in Cnrip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02188:Cnrip1 APN 11 17078398 critical splice acceptor site probably null
IGL02584:Cnrip1 APN 11 17078536 missense probably damaging 0.99
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
R8920:Cnrip1 UTSW 11 17055003 missense unknown
R9214:Cnrip1 UTSW 11 17054740 missense probably damaging 0.97
R9792:Cnrip1 UTSW 11 17054812 missense probably benign 0.01
Posted On 2015-04-16