Incidental Mutation 'RF003:Inpp4b'
ID 602633
Institutional Source Beutler Lab
Gene Symbol Inpp4b
Ensembl Gene ENSMUSG00000037940
Gene Name inositol polyphosphate-4-phosphatase, type II
Synonyms E130107I17Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # RF003 (G1)
Quality Score 109.008
Status Not validated
Chromosome 8
Chromosomal Location 81342556-82127914 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 81969521 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 361 (Y361*)
Ref Sequence ENSEMBL: ENSMUSP00000150520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042529] [ENSMUST00000109851] [ENSMUST00000109852] [ENSMUST00000169116] [ENSMUST00000169387] [ENSMUST00000170160] [ENSMUST00000172031] [ENSMUST00000213285] [ENSMUST00000215332] [ENSMUST00000217122]
AlphaFold Q6P1Y8
Predicted Effect probably null
Transcript: ENSMUST00000042529
AA Change: Y344*
SMART Domains Protein: ENSMUSP00000044466
Gene: ENSMUSG00000037940
AA Change: Y344*

DomainStartEndE-ValueType
C2 40 147 1.72e0 SMART
low complexity region 302 319 N/A INTRINSIC
low complexity region 425 434 N/A INTRINSIC
transmembrane domain 898 920 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000109851
AA Change: Y229*
SMART Domains Protein: ENSMUSP00000105477
Gene: ENSMUSG00000037940
AA Change: Y229*

DomainStartEndE-ValueType
low complexity region 22 35 N/A INTRINSIC
low complexity region 187 204 N/A INTRINSIC
low complexity region 310 319 N/A INTRINSIC
transmembrane domain 783 805 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000109852
AA Change: Y361*
SMART Domains Protein: ENSMUSP00000105478
Gene: ENSMUSG00000037940
AA Change: Y361*

DomainStartEndE-ValueType
C2 40 164 5.29e0 SMART
low complexity region 319 336 N/A INTRINSIC
low complexity region 442 451 N/A INTRINSIC
transmembrane domain 915 937 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000169116
AA Change: Y361*
SMART Domains Protein: ENSMUSP00000131947
Gene: ENSMUSG00000037940
AA Change: Y361*

DomainStartEndE-ValueType
C2 40 164 5.29e0 SMART
low complexity region 319 336 N/A INTRINSIC
low complexity region 442 451 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169387
Predicted Effect probably null
Transcript: ENSMUST00000170160
AA Change: Y176*
SMART Domains Protein: ENSMUSP00000132156
Gene: ENSMUSG00000037940
AA Change: Y176*

DomainStartEndE-ValueType
low complexity region 134 151 N/A INTRINSIC
low complexity region 257 266 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000172031
AA Change: Y361*
SMART Domains Protein: ENSMUSP00000131324
Gene: ENSMUSG00000037940
AA Change: Y361*

DomainStartEndE-ValueType
C2 40 164 5.29e0 SMART
low complexity region 319 336 N/A INTRINSIC
low complexity region 442 451 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000213285
AA Change: Y361*
Predicted Effect probably null
Transcript: ENSMUST00000215332
AA Change: Y361*
Predicted Effect probably null
Transcript: ENSMUST00000217122
AA Change: Y361*
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit osteoporosis, reduced long bone length, increased osteoclast numbers and size, increased osteoblast numbers, and increased bone resorption and resorption. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik AACC A 7: 40,993,055 (GRCm38) probably benign Het
A630073D07Rik A C 6: 132,627,443 (GRCm38) L13R unknown Het
Alg9 GGC GGCCGC 9: 50,775,427 (GRCm38) probably benign Het
Arc G C 15: 74,672,131 (GRCm38) T81S probably benign Het
Atad5 A T 11: 80,111,560 (GRCm38) K1059N probably damaging Het
Bdp1 C A 13: 100,060,449 (GRCm38) V1143F probably benign Het
Bdp1 C A 13: 100,060,450 (GRCm38) Q1142H probably benign Het
Ccdc33 T C 9: 58,058,291 (GRCm38) S583G probably benign Het
Cd109 TTAT TTATTTATTTATATAT 9: 78,712,531 (GRCm38) probably benign Het
Cep192 A T 18: 67,837,956 (GRCm38) R1009S probably benign Het
Clvs2 T A 10: 33,622,925 (GRCm38) H3L probably damaging Het
Cnot6 T C 11: 49,702,613 (GRCm38) M14V probably benign Het
Colec10 A G 15: 54,462,391 (GRCm38) R206G possibly damaging Het
Dennd6a T C 14: 26,629,534 (GRCm38) I598T probably damaging Het
Dmrt2 T C 19: 25,678,134 (GRCm38) S366P probably damaging Het
Dnmt1 AGTTCCTACCTCGTT AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT 9: 20,910,131 (GRCm38) probably null Het
Efhb T C 17: 53,400,891 (GRCm38) D748G probably damaging Het
Etl4 C T 2: 20,519,918 (GRCm38) Q21* probably null Het
Fam172a A T 13: 77,834,675 (GRCm38) I135L possibly damaging Het
Fam71e1 C CGGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTA 7: 44,500,527 (GRCm38) probably null Het
Flywch1 CCACTCCTGGTGT CCACTCCTGGTGTGGGGAGGCTACGTACTCACACACTCCTGGTGT 17: 23,762,166 (GRCm38) probably null Het
Fmn1 ACCTCC ACCTCCCCCTCC 2: 113,525,786 (GRCm38) probably benign Het
Fsip2 T A 2: 82,991,521 (GRCm38) M5866K probably benign Het
Gab3 CTT CTTATT X: 75,000,006 (GRCm38) probably null Het
Gnl2 T A 4: 125,043,725 (GRCm38) probably null Het
Grip2 C T 6: 91,783,593 (GRCm38) R341Q probably benign Het
Hmcn1 T A 1: 150,624,561 (GRCm38) H3960L probably damaging Het
Igkv6-25 T A 6: 70,215,778 (GRCm38) Y56* probably null Het
Il12a A T 3: 68,695,229 (GRCm38) T102S probably benign Het
Il1a T A 2: 129,302,932 (GRCm38) I189F possibly damaging Het
Iqcf4 CTTTTCCTTTTCCTTTT CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCATTTTCCTTTTCCTTTT 9: 106,570,607 (GRCm38) probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,850,378 (GRCm38) probably benign Het
Las1l AGTGG AGTGGTGG X: 95,940,816 (GRCm38) probably benign Het
Lrmp AGCACATTG AGCACATTGTGCACATTG 6: 145,173,783 (GRCm38) probably benign Het
Lrrc8d T C 5: 105,812,641 (GRCm38) Y306H probably damaging Het
Mamld1 AGC AGCCGC X: 71,118,820 (GRCm38) probably benign Het
Map1a CTCCAGCTCCAGCTCCAGCTCCA CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA 2: 121,306,296 (GRCm38) probably benign Het
Map1b G T 13: 99,430,750 (GRCm38) A1821E unknown Het
Maz A G 7: 127,025,497 (GRCm38) C284R probably damaging Het
Med23 A G 10: 24,903,785 (GRCm38) H920R probably damaging Het
Megf10 CCAGCAGCAGCAGCAGCAGCAG CCAGCAGCAGCAGCAGCAG 18: 57,294,027 (GRCm38) probably benign Het
Mmp14 C T 14: 54,439,014 (GRCm38) R339* probably null Het
Mroh9 T G 1: 163,058,061 (GRCm38) K334T probably damaging Het
Nab1 A T 1: 52,479,282 (GRCm38) C320S probably damaging Het
Noto T C 6: 85,424,210 (GRCm38) S74P probably benign Het
Nudt4 T C 10: 95,549,374 (GRCm38) N152D possibly damaging Het
Nup155 T TTTTG 15: 8,119,176 (GRCm38) probably benign Het
Nusap1 AGCTGAGA AGCTGAGATACACGTTAGCAGTGAGGAGCAGGCTGAGA 2: 119,627,603 (GRCm38) probably benign Het
Olfr118 A C 17: 37,672,858 (GRCm38) K278N probably damaging Het
Olfr330 CA C 11: 58,529,157 (GRCm38) probably null Het
Olfr461 T C 6: 40,544,362 (GRCm38) I206V probably benign Het
Olfr585 TTA TTAGTA 7: 103,098,306 (GRCm38) probably null Het
Olfr585 GTTAT GTTATTAT 7: 103,098,305 (GRCm38) Het
Olfr710 T A 7: 106,944,648 (GRCm38) M118L probably damaging Het
Olfr828 T C 9: 18,815,482 (GRCm38) T271A probably benign Het
Plxnc1 T C 10: 94,794,444 (GRCm38) Y1531C probably damaging Het
Pnmal2 TGA TGAAGA 7: 16,946,016 (GRCm38) probably benign Het
Rp1 A G 1: 4,344,694 (GRCm38) V2065A probably damaging Het
Sbp AAGATGCTGACAACA AAGATGCTGACAACAGAGATGCTGACAACA 17: 23,945,369 (GRCm38) probably benign Het
Sepsecs G A 5: 52,647,191 (GRCm38) T379M probably benign Het
Sfswap GGCC GGCCCACTCTGCC 5: 129,569,764 (GRCm38) probably benign Het
Six3 GCG GCGTCG 17: 85,621,370 (GRCm38) probably benign Het
Tfeb C T 17: 47,788,078 (GRCm38) T259I possibly damaging Het
Tgoln1 A AAACTCAG 6: 72,616,352 (GRCm38) probably null Het
Tmem94 G A 11: 115,796,132 (GRCm38) V1108M probably damaging Het
Usp35 T C 7: 97,322,096 (GRCm38) K297E possibly damaging Het
Vcpkmt T A 12: 69,582,824 (GRCm38) T55S possibly damaging Het
Zfp384 GCCCAGGCCCAG GCCCAGGCCCAGTCCCAGGCCCAG 6: 125,036,483 (GRCm38) probably benign Het
Zfp384 GGCCC GGCCCTGGCCCAAGCCC 6: 125,036,476 (GRCm38) probably benign Het
Zfp384 GCCCAGGCCCAGGCCCAGGCCCAG GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG 6: 125,036,471 (GRCm38) probably benign Het
Zfp407 A T 18: 84,209,563 (GRCm38) S1974T probably benign Het
Zfp677 T C 17: 21,397,442 (GRCm38) S254P probably damaging Het
Other mutations in Inpp4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Inpp4b APN 8 81,856,750 (GRCm38) missense probably damaging 1.00
IGL01481:Inpp4b APN 8 81,997,380 (GRCm38) missense probably damaging 1.00
IGL01509:Inpp4b APN 8 81,890,703 (GRCm38) splice site probably benign
IGL01515:Inpp4b APN 8 81,952,711 (GRCm38) missense possibly damaging 0.68
IGL01607:Inpp4b APN 8 82,010,663 (GRCm38) missense probably benign 0.03
IGL01643:Inpp4b APN 8 82,071,771 (GRCm38) missense probably damaging 0.97
IGL01736:Inpp4b APN 8 81,997,339 (GRCm38) missense probably benign 0.00
IGL02154:Inpp4b APN 8 81,969,501 (GRCm38) splice site probably benign
IGL02327:Inpp4b APN 8 82,041,962 (GRCm38) missense probably benign 0.01
IGL02413:Inpp4b APN 8 82,033,171 (GRCm38) missense probably benign
IGL02652:Inpp4b APN 8 81,770,800 (GRCm38) splice site probably benign
IGL02678:Inpp4b APN 8 81,856,744 (GRCm38) missense probably damaging 1.00
IGL03146:Inpp4b APN 8 81,743,781 (GRCm38) missense possibly damaging 0.61
LCD18:Inpp4b UTSW 8 81,693,010 (GRCm38) intron probably benign
PIT4280001:Inpp4b UTSW 8 82,034,417 (GRCm38) missense probably benign 0.00
PIT4480001:Inpp4b UTSW 8 82,046,267 (GRCm38) missense probably damaging 1.00
PIT4504001:Inpp4b UTSW 8 82,041,935 (GRCm38) missense probably damaging 1.00
R0083:Inpp4b UTSW 8 81,741,462 (GRCm38) missense possibly damaging 0.77
R0212:Inpp4b UTSW 8 81,770,917 (GRCm38) missense probably benign 0.00
R0285:Inpp4b UTSW 8 82,034,516 (GRCm38) splice site probably benign
R0363:Inpp4b UTSW 8 81,884,257 (GRCm38) splice site probably benign
R0364:Inpp4b UTSW 8 81,997,314 (GRCm38) missense probably benign 0.09
R0471:Inpp4b UTSW 8 82,041,899 (GRCm38) missense possibly damaging 0.94
R0550:Inpp4b UTSW 8 81,997,337 (GRCm38) missense probably benign 0.00
R0562:Inpp4b UTSW 8 81,768,151 (GRCm38) missense possibly damaging 0.88
R0661:Inpp4b UTSW 8 81,741,462 (GRCm38) missense possibly damaging 0.77
R0693:Inpp4b UTSW 8 81,997,314 (GRCm38) missense probably benign 0.09
R1081:Inpp4b UTSW 8 82,069,024 (GRCm38) missense probably damaging 0.97
R1251:Inpp4b UTSW 8 81,890,753 (GRCm38) missense probably benign 0.01
R1374:Inpp4b UTSW 8 81,743,816 (GRCm38) critical splice donor site probably null
R1445:Inpp4b UTSW 8 81,952,834 (GRCm38) splice site probably null
R1465:Inpp4b UTSW 8 81,768,157 (GRCm38) missense probably damaging 1.00
R1465:Inpp4b UTSW 8 81,768,157 (GRCm38) missense probably damaging 1.00
R1647:Inpp4b UTSW 8 81,856,774 (GRCm38) splice site probably benign
R1754:Inpp4b UTSW 8 81,770,811 (GRCm38) missense probably damaging 1.00
R1759:Inpp4b UTSW 8 81,768,103 (GRCm38) missense probably benign 0.06
R2085:Inpp4b UTSW 8 81,952,274 (GRCm38) missense probably damaging 1.00
R2156:Inpp4b UTSW 8 82,048,489 (GRCm38) missense probably damaging 1.00
R2160:Inpp4b UTSW 8 82,121,375 (GRCm38) nonsense probably null
R2175:Inpp4b UTSW 8 81,856,699 (GRCm38) missense probably damaging 1.00
R2191:Inpp4b UTSW 8 81,997,302 (GRCm38) missense probably damaging 1.00
R2401:Inpp4b UTSW 8 81,997,339 (GRCm38) missense probably benign 0.00
R2475:Inpp4b UTSW 8 82,041,978 (GRCm38) missense probably benign 0.09
R2512:Inpp4b UTSW 8 82,010,550 (GRCm38) missense probably damaging 1.00
R2919:Inpp4b UTSW 8 81,985,329 (GRCm38) missense possibly damaging 0.93
R3021:Inpp4b UTSW 8 81,902,838 (GRCm38) missense possibly damaging 0.47
R3423:Inpp4b UTSW 8 81,952,261 (GRCm38) missense possibly damaging 0.63
R3777:Inpp4b UTSW 8 82,041,992 (GRCm38) missense possibly damaging 0.89
R3778:Inpp4b UTSW 8 82,041,992 (GRCm38) missense possibly damaging 0.89
R3794:Inpp4b UTSW 8 82,033,216 (GRCm38) missense probably damaging 1.00
R3795:Inpp4b UTSW 8 82,033,216 (GRCm38) missense probably damaging 1.00
R4590:Inpp4b UTSW 8 81,741,411 (GRCm38) start codon destroyed probably null 1.00
R4602:Inpp4b UTSW 8 81,969,535 (GRCm38) missense probably damaging 0.99
R4691:Inpp4b UTSW 8 82,122,653 (GRCm38) missense probably damaging 1.00
R4924:Inpp4b UTSW 8 82,122,624 (GRCm38) missense probably damaging 1.00
R4992:Inpp4b UTSW 8 82,033,208 (GRCm38) missense probably damaging 1.00
R5219:Inpp4b UTSW 8 81,884,156 (GRCm38) missense probably benign 0.01
R5228:Inpp4b UTSW 8 81,768,115 (GRCm38) missense probably damaging 0.99
R5557:Inpp4b UTSW 8 81,952,259 (GRCm38) missense probably damaging 0.99
R5627:Inpp4b UTSW 8 81,743,816 (GRCm38) critical splice donor site probably benign
R5691:Inpp4b UTSW 8 81,890,694 (GRCm38) intron probably benign
R6186:Inpp4b UTSW 8 82,046,234 (GRCm38) missense probably damaging 0.99
R6213:Inpp4b UTSW 8 81,997,390 (GRCm38) missense probably damaging 1.00
R6232:Inpp4b UTSW 8 81,952,184 (GRCm38) missense probably damaging 1.00
R6283:Inpp4b UTSW 8 81,770,833 (GRCm38) missense probably damaging 1.00
R6302:Inpp4b UTSW 8 81,768,177 (GRCm38) missense probably benign 0.00
R6309:Inpp4b UTSW 8 82,041,917 (GRCm38) missense probably damaging 1.00
R6360:Inpp4b UTSW 8 81,902,852 (GRCm38) missense probably benign 0.20
R6477:Inpp4b UTSW 8 81,844,714 (GRCm38) splice site probably null
R6773:Inpp4b UTSW 8 81,856,620 (GRCm38) intron probably benign
R6968:Inpp4b UTSW 8 81,844,457 (GRCm38) missense probably benign 0.18
R7147:Inpp4b UTSW 8 81,902,771 (GRCm38) missense probably damaging 1.00
R7318:Inpp4b UTSW 8 82,071,745 (GRCm38) missense probably damaging 1.00
R7409:Inpp4b UTSW 8 81,952,685 (GRCm38) splice site probably null
R7455:Inpp4b UTSW 8 82,071,703 (GRCm38) missense probably damaging 0.99
R7632:Inpp4b UTSW 8 82,046,339 (GRCm38) missense probably damaging 1.00
R7844:Inpp4b UTSW 8 81,741,320 (GRCm38) start gained probably benign
R7958:Inpp4b UTSW 8 81,969,589 (GRCm38) missense probably damaging 1.00
R8440:Inpp4b UTSW 8 82,041,895 (GRCm38) missense probably damaging 1.00
R9160:Inpp4b UTSW 8 81,884,153 (GRCm38) missense possibly damaging 0.55
R9303:Inpp4b UTSW 8 82,033,129 (GRCm38) missense probably damaging 1.00
R9390:Inpp4b UTSW 8 81,770,893 (GRCm38) missense probably damaging 1.00
R9583:Inpp4b UTSW 8 81,770,926 (GRCm38) critical splice donor site probably null
R9705:Inpp4b UTSW 8 82,046,261 (GRCm38) missense probably benign 0.14
R9778:Inpp4b UTSW 8 82,048,531 (GRCm38) missense probably benign
Z1088:Inpp4b UTSW 8 82,068,931 (GRCm38) critical splice acceptor site probably null
Z1176:Inpp4b UTSW 8 82,069,001 (GRCm38) missense possibly damaging 0.60
Predicted Primers PCR Primer
(F):5'- GCACAGGTGGCTTTTAGAAAGATTG -3'
(R):5'- ATTCATTGGGATAGACTGGTCTCC -3'

Sequencing Primer
(F):5'- AAAGATTGATTAGTTCTTCTTGCCCC -3'
(R):5'- GATAGACTGGTCTCCAAAGTATTAAC -3'
Posted On 2019-12-04