Incidental Mutation 'R2186:Itpripl2'
ID237766
Institutional Source Beutler Lab
Gene Symbol Itpripl2
Ensembl Gene ENSMUSG00000095115
Gene Nameinositol 1,4,5-triphosphate receptor interacting protein-like 2
Synonyms
MMRRC Submission 040188-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.141) question?
Stock #R2186 (G1)
Quality Score147
Status Validated
Chromosome7
Chromosomal Location118485111-118491975 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 118491277 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 20 (C20R)
Ref Sequence ENSEMBL: ENSMUSP00000136409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178344]
Predicted Effect probably damaging
Transcript: ENSMUST00000178344
AA Change: C20R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136409
Gene: ENSMUSG00000095115
AA Change: C20R

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
transmembrane domain 46 64 N/A INTRINSIC
Mab-21 161 501 1.58e-72 SMART
Meta Mutation Damage Score 0.2590 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,208,514 N29S probably damaging Het
4931409K22Rik C T 5: 24,554,526 G82E probably damaging Het
Ap1b1 T C 11: 5,015,737 V92A possibly damaging Het
Asgr1 G A 11: 70,056,249 R66Q probably benign Het
Atp8b4 T A 2: 126,358,860 Q796L probably damaging Het
Camk4 A C 18: 33,182,341 D307A probably damaging Het
Catsperb T A 12: 101,480,782 I223K probably benign Het
Ccdc80 A G 16: 45,118,105 Y725C probably damaging Het
Cep164 T A 9: 45,768,578 Q1119L probably damaging Het
Cep85l G A 10: 53,348,618 P292S probably damaging Het
Cfap53 A G 18: 74,329,505 probably null Het
Cts8 C A 13: 61,251,731 C138F probably damaging Het
Dis3l C A 9: 64,339,612 E54* probably null Het
Dnaja1 T A 4: 40,732,853 D367E probably benign Het
Duoxa2 T C 2: 122,299,174 I45T probably damaging Het
EU599041 C T 7: 43,225,909 noncoding transcript Het
Exoc5 T C 14: 49,015,479 M561V probably benign Het
Fam184a T C 10: 53,638,194 I296V probably damaging Het
Fbxl18 C T 5: 142,878,761 V686M probably damaging Het
Fryl A G 5: 73,064,975 S2088P probably damaging Het
Fus G A 7: 127,985,534 probably benign Het
Gm38394 A G 1: 133,658,079 S507P probably damaging Het
Gpr183 T A 14: 121,954,315 I265L probably benign Het
Herc1 T G 9: 66,439,901 L2013V probably benign Het
Ick C T 9: 78,131,487 T6M probably benign Het
Iqca T C 1: 90,081,344 K430R probably benign Het
Kmt2c C A 5: 25,287,112 C852F probably damaging Het
Lamb1 A T 12: 31,318,467 K1199* probably null Het
Lrba A G 3: 86,304,336 Y421C probably damaging Het
Lrig2 A G 3: 104,468,598 L96P probably benign Het
Mcc A G 18: 44,812,078 F29S possibly damaging Het
Mlh1 T C 9: 111,258,566 probably benign Het
Mpp5 T C 12: 78,819,371 probably benign Het
Rbm33 A G 5: 28,394,230 T867A unknown Het
Sdk1 T A 5: 142,046,292 S1041T probably benign Het
Serpinb2 A G 1: 107,523,964 probably null Het
Serpinb9d A G 13: 33,203,047 N366S possibly damaging Het
Sf3b1 A G 1: 55,007,633 S251P probably benign Het
Slc45a1 T C 4: 150,638,251 Y392C probably benign Het
Tlr4 T A 4: 66,839,983 C338S possibly damaging Het
Trio A G 15: 27,823,975 probably null Het
Vnn1 A T 10: 23,897,401 I109L probably benign Het
Wnk1 A G 6: 119,948,567 V1312A probably benign Het
Zfp28 A G 7: 6,394,498 H644R probably damaging Het
Zfp286 A G 11: 62,780,461 V262A probably damaging Het
Zfp292 A T 4: 34,807,962 M1694K probably benign Het
Other mutations in Itpripl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02397:Itpripl2 APN 7 118490296 missense probably damaging 1.00
R0633:Itpripl2 UTSW 7 118490256 missense probably benign 0.01
R2154:Itpripl2 UTSW 7 118489884 missense probably damaging 0.99
R2237:Itpripl2 UTSW 7 118490071 missense probably benign
R4830:Itpripl2 UTSW 7 118491057 missense probably benign
R5571:Itpripl2 UTSW 7 118489869 missense probably damaging 0.99
R5583:Itpripl2 UTSW 7 118489878 missense probably benign 0.01
R5753:Itpripl2 UTSW 7 118491009 missense probably damaging 0.96
R5833:Itpripl2 UTSW 7 118489971 missense probably benign 0.32
R6913:Itpripl2 UTSW 7 118491109 missense possibly damaging 0.49
R7079:Itpripl2 UTSW 7 118490869 missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- GCTGAGAAGTTGGCATGACC -3'
(R):5'- CTTGAGCTAAGAGTGGAGGC -3'

Sequencing Primer
(F):5'- CGGGAAGAGCCTGGCAAC -3'
(R):5'- CTAAGAGTGGAGGCAGAGCAGC -3'
Posted On2014-10-02