Incidental Mutation 'R2877:Itpripl1'
ID260588
Institutional Source Beutler Lab
Gene Symbol Itpripl1
Ensembl Gene ENSMUSG00000074825
Gene Nameinositol 1,4,5-triphosphate receptor interacting protein-like 1
Synonyms
MMRRC Submission 040465-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #R2877 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location127138772-127143442 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 127141614 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 196 (V196A)
Ref Sequence ENSEMBL: ENSMUSP00000122289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110386] [ENSMUST00000132773] [ENSMUST00000154021]
Predicted Effect probably benign
Transcript: ENSMUST00000110386
AA Change: V196A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106016
Gene: ENSMUSG00000074825
AA Change: V196A

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
coiled coil region 32 66 N/A INTRINSIC
low complexity region 131 140 N/A INTRINSIC
Mab-21 214 533 1.66e-66 SMART
Predicted Effect unknown
Transcript: ENSMUST00000132773
AA Change: C114R
SMART Domains Protein: ENSMUSP00000118487
Gene: ENSMUSG00000074825
AA Change: C114R

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
coiled coil region 32 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154021
AA Change: V196A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122289
Gene: ENSMUSG00000074825
AA Change: V196A

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
coiled coil region 32 66 N/A INTRINSIC
low complexity region 131 140 N/A INTRINSIC
Mab-21 214 533 1.66e-66 SMART
Meta Mutation Damage Score 0.0590 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 96% (66/69)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A C 5: 109,738,945 probably benign Het
Abca13 C T 11: 9,291,889 L1251F possibly damaging Het
Accsl A T 2: 93,859,410 M384K probably damaging Het
Adssl1 A C 12: 112,634,189 K197N probably damaging Het
Alg11 A G 8: 22,065,358 N170D possibly damaging Het
Ambn T C 5: 88,460,700 probably benign Het
Anapc7 T C 5: 122,428,156 Y43H probably benign Het
Anxa10 T A 8: 62,060,339 I255F probably damaging Het
Atg2b A T 12: 105,664,009 Y374* probably null Het
Axl T A 7: 25,766,524 M563L probably damaging Het
Carmil2 A G 8: 105,695,423 E1108G probably damaging Het
Casp1 T C 9: 5,303,110 M188T probably damaging Het
Chd3 A T 11: 69,361,172 C87* probably null Het
Col6a3 G A 1: 90,775,599 T2475I unknown Het
Creb3l4 A T 3: 90,242,308 S83R probably damaging Het
Cyp2a4 G A 7: 26,312,187 E278K possibly damaging Het
Dync1li2 A C 8: 104,429,415 Y265D probably damaging Het
Eif3f G A 7: 108,934,812 probably null Het
Eipr1 C T 12: 28,760,092 T22I possibly damaging Het
Fbxo48 A G 11: 16,953,382 K3E possibly damaging Het
Fbxw13 A G 9: 109,181,466 F368S probably damaging Het
Fbxw19 A T 9: 109,485,970 W175R probably damaging Het
Fibcd1 G A 2: 31,838,666 P60S probably benign Het
Foxa3 A T 7: 19,014,880 M107K probably benign Het
Foxj2 G A 6: 122,842,832 D560N probably damaging Het
Gfm2 A G 13: 97,153,249 R181G possibly damaging Het
Gpr25 C T 1: 136,260,815 G20D possibly damaging Het
Grin1 A G 2: 25,297,629 V594A probably damaging Het
Kcns1 A G 2: 164,164,762 I427T probably damaging Het
Kiz T C 2: 146,889,556 V322A possibly damaging Het
Mslnl G A 17: 25,742,934 V128M probably damaging Het
Muc19 T A 15: 91,893,006 noncoding transcript Het
Naa16 A G 14: 79,343,298 M592T probably benign Het
Nat6 A T 9: 107,583,168 E87D possibly damaging Het
Ncapd3 T A 9: 27,044,487 probably null Het
Nebl C A 2: 17,434,929 D178Y probably damaging Het
Nedd1 T A 10: 92,714,126 N99I possibly damaging Het
Nuak1 T C 10: 84,375,345 D293G possibly damaging Het
Olfr1036 T C 2: 86,075,331 M197T possibly damaging Het
Olfr1487 A T 19: 13,619,632 I157F probably damaging Het
Palb2 A G 7: 122,114,429 V877A probably damaging Het
Rassf6 C T 5: 90,606,805 V205I probably damaging Het
Rbak A G 5: 143,174,105 Y398H probably damaging Het
Rcbtb1 A G 14: 59,210,592 probably benign Het
Robo4 CGG CG 9: 37,411,490 probably null Het
Smpdl3a C A 10: 57,809,085 T317K probably damaging Het
Speer4e C T 5: 14,937,116 V92M probably damaging Het
Syne2 A G 12: 76,000,831 I4009V probably benign Het
Tarbp1 G A 8: 126,427,832 L1474F probably damaging Het
Tchh A G 3: 93,444,228 E325G unknown Het
Trpc4 T C 3: 54,291,340 S562P probably damaging Het
Ttn T C 2: 76,737,065 D27828G probably damaging Het
Ulk4 T C 9: 121,260,039 D258G probably benign Het
Vmn1r215 A G 13: 23,076,561 H257R probably benign Het
Vmn2r56 A C 7: 12,711,027 M433R probably benign Het
Vmn2r76 C A 7: 86,225,993 C592F probably benign Het
Zcchc8 C T 5: 123,700,703 V591I probably benign Het
Znhit6 G C 3: 145,576,654 G96A probably benign Het
Other mutations in Itpripl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02444:Itpripl1 APN 2 127141701 missense possibly damaging 0.87
IGL02978:Itpripl1 APN 2 127141012 missense probably damaging 1.00
R0328:Itpripl1 UTSW 2 127142004 missense possibly damaging 0.94
R0579:Itpripl1 UTSW 2 127141091 nonsense probably null
R1178:Itpripl1 UTSW 2 127141899 missense probably benign 0.05
R1623:Itpripl1 UTSW 2 127141635 missense possibly damaging 0.78
R1956:Itpripl1 UTSW 2 127142007 missense probably damaging 0.98
R2878:Itpripl1 UTSW 2 127141614 missense probably benign 0.00
R4949:Itpripl1 UTSW 2 127141407 missense probably benign 0.13
R5161:Itpripl1 UTSW 2 127141857 missense probably damaging 1.00
R5236:Itpripl1 UTSW 2 127141850 missense probably damaging 1.00
R5364:Itpripl1 UTSW 2 127141819 missense possibly damaging 0.60
R5637:Itpripl1 UTSW 2 127142124 missense probably damaging 1.00
R5715:Itpripl1 UTSW 2 127142007 missense probably damaging 0.98
R7545:Itpripl1 UTSW 2 127141661 nonsense probably null
R8409:Itpripl1 UTSW 2 127140766 missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- TGCACTCAGAGTCCACCTTC -3'
(R):5'- AGCTCCTACGACAGAGCATG -3'

Sequencing Primer
(F):5'- TCAGAGTCCACCTTCACACAG -3'
(R):5'- TTTGAGTCCAGCAGCGAG -3'
Posted On2015-01-23