Incidental Mutation 'R1625:Pitpnm2'
ID 174957
Institutional Source Beutler Lab
Gene Symbol Pitpnm2
Ensembl Gene ENSMUSG00000029406
Gene Name phosphatidylinositol transfer protein, membrane-associated 2
Synonyms RDGBA2, NIR3, Rdgb2
MMRRC Submission 039662-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1625 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 124256753-124387823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 124271496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 359 (D359V)
Ref Sequence ENSEMBL: ENSMUSP00000143269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086123] [ENSMUST00000159677] [ENSMUST00000161273] [ENSMUST00000161938] [ENSMUST00000162812]
AlphaFold Q6ZPQ6
Predicted Effect probably benign
Transcript: ENSMUST00000086123
AA Change: D359V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
AA Change: D359V

DomainStartEndE-ValueType
Pfam:IP_trans 1 253 6.1e-132 PFAM
low complexity region 298 319 N/A INTRINSIC
low complexity region 333 344 N/A INTRINSIC
low complexity region 507 515 N/A INTRINSIC
Blast:DDHD 548 570 6e-7 BLAST
low complexity region 571 589 N/A INTRINSIC
low complexity region 608 630 N/A INTRINSIC
low complexity region 682 689 N/A INTRINSIC
DDHD 701 895 1.66e-98 SMART
LNS2 1040 1171 3.22e-55 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159677
AA Change: D359V

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000143269
Gene: ENSMUSG00000029406
AA Change: D359V

DomainStartEndE-ValueType
Pfam:IP_trans 1 253 3.2e-130 PFAM
low complexity region 298 319 N/A INTRINSIC
low complexity region 333 344 N/A INTRINSIC
low complexity region 420 436 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161273
AA Change: D359V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
AA Change: D359V

DomainStartEndE-ValueType
Pfam:IP_trans 1 253 3.2e-129 PFAM
low complexity region 298 319 N/A INTRINSIC
low complexity region 333 344 N/A INTRINSIC
Blast:DDHD 422 670 2e-65 BLAST
low complexity region 682 689 N/A INTRINSIC
DDHD 701 945 7.5e-100 SMART
LNS2 1090 1221 3.1e-59 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161530
Predicted Effect probably benign
Transcript: ENSMUST00000161938
AA Change: D359V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
AA Change: D359V

DomainStartEndE-ValueType
Pfam:IP_trans 1 251 7.5e-116 PFAM
low complexity region 298 319 N/A INTRINSIC
low complexity region 333 344 N/A INTRINSIC
Blast:DDHD 422 670 2e-65 BLAST
low complexity region 682 689 N/A INTRINSIC
DDHD 701 949 8.37e-104 SMART
LNS2 1094 1225 3.22e-55 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162812
AA Change: D359V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
AA Change: D359V

DomainStartEndE-ValueType
Pfam:IP_trans 1 253 6.1e-132 PFAM
low complexity region 298 319 N/A INTRINSIC
low complexity region 333 344 N/A INTRINSIC
low complexity region 507 515 N/A INTRINSIC
Blast:DDHD 548 570 6e-7 BLAST
low complexity region 571 589 N/A INTRINSIC
low complexity region 608 630 N/A INTRINSIC
low complexity region 682 689 N/A INTRINSIC
DDHD 701 895 1.66e-98 SMART
LNS2 1040 1171 3.22e-55 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 89.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice are viable, fertile, and show no defects pertaining to photoreceptor function or survival. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,857,947 (GRCm39) M605L probably benign Het
Abcc5 A T 16: 20,184,567 (GRCm39) S1031T probably damaging Het
Acot7 T A 4: 152,270,748 (GRCm39) C31S probably benign Het
Acss3 A T 10: 106,773,263 (GRCm39) probably null Het
Adipor1 T C 1: 134,351,802 (GRCm39) F83S possibly damaging Het
Agrn G A 4: 156,257,317 (GRCm39) S1171L probably damaging Het
Aoc1l1 T A 6: 48,952,105 (GRCm39) L10Q probably damaging Het
Arhgap5 T A 12: 52,564,159 (GRCm39) C377S probably benign Het
Arid4b T A 13: 14,361,699 (GRCm39) V721D probably damaging Het
Aspm G A 1: 139,408,777 (GRCm39) A2555T probably benign Het
Atp6v0a1 T A 11: 100,946,380 (GRCm39) L791Q probably damaging Het
Car11 A G 7: 45,350,731 (GRCm39) K76E probably benign Het
Casp8ap2 T A 4: 32,648,068 (GRCm39) M1925K probably benign Het
Cc2d1a A T 8: 84,866,001 (GRCm39) L418Q probably damaging Het
Ccl9 G A 11: 83,466,736 (GRCm39) R64W probably damaging Het
Cfap20dc A G 14: 8,431,668 (GRCm38) Y655H probably damaging Het
Cfap43 T A 19: 47,739,527 (GRCm39) K1325N probably damaging Het
Dars2 G A 1: 160,881,614 (GRCm39) P305L possibly damaging Het
Ddx11 C T 17: 66,457,692 (GRCm39) T859I probably benign Het
Dock7 C T 4: 98,850,433 (GRCm39) probably null Het
Efcab6 A G 15: 83,831,839 (GRCm39) V570A probably benign Het
Fermt1 T A 2: 132,764,751 (GRCm39) I369F probably damaging Het
Fras1 A G 5: 96,861,849 (GRCm39) Y2161C probably damaging Het
Fras1 C A 5: 96,857,837 (GRCm39) P2044T possibly damaging Het
Gucy1a1 T C 3: 82,009,362 (GRCm39) I549V probably benign Het
Hspg2 G A 4: 137,246,282 (GRCm39) S1020N probably benign Het
Kif21a A G 15: 90,826,378 (GRCm39) S1360P probably damaging Het
Lrp3 T C 7: 34,903,350 (GRCm39) Y332C probably damaging Het
Ltc4s C A 11: 50,128,215 (GRCm39) A32S possibly damaging Het
Mgrn1 T C 16: 4,728,627 (GRCm39) L84P probably damaging Het
Muc2 C G 7: 141,283,405 (GRCm39) C672W probably damaging Het
Mvp A T 7: 126,600,845 (GRCm39) V52E probably damaging Het
Ndrg2 T C 14: 52,144,420 (GRCm39) T269A probably damaging Het
Notch2 T A 3: 98,018,891 (GRCm39) D684E probably damaging Het
Nup205 A G 6: 35,168,878 (GRCm39) D316G probably benign Het
Or12e7 T A 2: 87,288,016 (GRCm39) I169K probably damaging Het
Or2v2 T C 11: 49,004,071 (GRCm39) M161V probably benign Het
Or7d11 A G 9: 19,966,678 (GRCm39) L27P probably damaging Het
Pcsk1 A T 13: 75,274,971 (GRCm39) D520V probably benign Het
Pik3cg A T 12: 32,244,741 (GRCm39) D904E probably damaging Het
Ppih T C 4: 119,175,779 (GRCm39) I69V probably damaging Het
Rab11fip3 T C 17: 26,287,865 (GRCm39) E96G possibly damaging Het
Retreg3 C A 11: 100,992,875 (GRCm39) M1I probably null Het
Rfpl4 C T 7: 5,118,409 (GRCm39) V54I possibly damaging Het
Rif1 T C 2: 51,993,652 (GRCm39) I855T probably benign Het
Rrm1 T A 7: 102,117,554 (GRCm39) I748N probably damaging Het
Sap130 T A 18: 31,807,517 (GRCm39) N441K probably damaging Het
Sf3b1 T A 1: 55,058,536 (GRCm39) I18F probably damaging Het
Skor2 A G 18: 76,946,499 (GRCm39) N74D unknown Het
Slc17a6 C A 7: 51,311,208 (GRCm39) F307L probably benign Het
Slc25a13 G A 6: 6,096,675 (GRCm39) L410F probably damaging Het
Slc47a1 A T 11: 61,262,625 (GRCm39) V38E probably damaging Het
Slc8a1 T A 17: 81,956,670 (GRCm39) T123S probably damaging Het
Slc9a5 C A 8: 106,094,755 (GRCm39) T782K possibly damaging Het
Spmip7 C A 11: 11,438,644 (GRCm39) probably benign Het
Sppl2c C A 11: 104,077,995 (GRCm39) T265K probably damaging Het
Srfbp1 A G 18: 52,621,788 (GRCm39) K283R probably benign Het
Ssr1 C T 13: 38,173,479 (GRCm39) probably null Het
Stard3nl T C 13: 19,556,754 (GRCm39) probably null Het
Timeless G T 10: 128,076,493 (GRCm39) S134I probably damaging Het
Tll1 A G 8: 64,494,476 (GRCm39) F760L probably damaging Het
Tspear A G 10: 77,706,333 (GRCm39) I368V probably benign Het
Txnrd2 G T 16: 18,257,116 (GRCm39) W144L probably damaging Het
Unc5d T C 8: 29,173,234 (GRCm39) E668G probably damaging Het
Urb1 C T 16: 90,570,936 (GRCm39) probably null Het
Uts2r A G 11: 121,052,033 (GRCm39) Y299C probably damaging Het
Vmn1r66 G T 7: 10,008,316 (GRCm39) T239K probably benign Het
Vps39 C T 2: 120,154,106 (GRCm39) V630M probably damaging Het
Wrn T C 8: 33,819,158 (GRCm39) T22A probably benign Het
Zfp7 T A 15: 76,765,374 (GRCm39) D22E probably damaging Het
Other mutations in Pitpnm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00930:Pitpnm2 APN 5 124,259,726 (GRCm39) unclassified probably benign
IGL01660:Pitpnm2 APN 5 124,261,257 (GRCm39) missense probably damaging 1.00
IGL02328:Pitpnm2 APN 5 124,259,477 (GRCm39) missense probably damaging 0.99
IGL02340:Pitpnm2 APN 5 124,268,676 (GRCm39) missense probably damaging 1.00
IGL02399:Pitpnm2 APN 5 124,278,821 (GRCm39) splice site probably benign
IGL02719:Pitpnm2 APN 5 124,278,665 (GRCm39) missense probably damaging 1.00
IGL03053:Pitpnm2 APN 5 124,281,664 (GRCm39) missense probably damaging 1.00
IGL03083:Pitpnm2 APN 5 124,271,445 (GRCm39) missense possibly damaging 0.92
PIT4131001:Pitpnm2 UTSW 5 124,269,178 (GRCm39) missense probably benign 0.01
R0058:Pitpnm2 UTSW 5 124,262,093 (GRCm39) missense probably damaging 1.00
R0437:Pitpnm2 UTSW 5 124,269,152 (GRCm39) splice site probably benign
R0530:Pitpnm2 UTSW 5 124,269,264 (GRCm39) missense probably damaging 1.00
R0568:Pitpnm2 UTSW 5 124,278,580 (GRCm39) splice site probably benign
R0926:Pitpnm2 UTSW 5 124,269,272 (GRCm39) missense probably benign 0.10
R2008:Pitpnm2 UTSW 5 124,290,684 (GRCm39) start codon destroyed probably damaging 0.99
R2120:Pitpnm2 UTSW 5 124,265,332 (GRCm39) missense probably damaging 1.00
R2354:Pitpnm2 UTSW 5 124,260,982 (GRCm39) missense probably damaging 0.99
R2448:Pitpnm2 UTSW 5 124,262,057 (GRCm39) missense probably damaging 1.00
R2509:Pitpnm2 UTSW 5 124,274,389 (GRCm39) missense probably damaging 0.99
R2510:Pitpnm2 UTSW 5 124,274,389 (GRCm39) missense probably damaging 0.99
R2511:Pitpnm2 UTSW 5 124,274,389 (GRCm39) missense probably damaging 0.99
R2520:Pitpnm2 UTSW 5 124,267,464 (GRCm39) missense probably damaging 0.96
R2860:Pitpnm2 UTSW 5 124,259,500 (GRCm39) missense probably damaging 1.00
R2861:Pitpnm2 UTSW 5 124,259,500 (GRCm39) missense probably damaging 1.00
R4407:Pitpnm2 UTSW 5 124,290,678 (GRCm39) missense possibly damaging 0.57
R4417:Pitpnm2 UTSW 5 124,261,632 (GRCm39) missense probably damaging 1.00
R4426:Pitpnm2 UTSW 5 124,280,186 (GRCm39) missense probably benign 0.32
R4458:Pitpnm2 UTSW 5 124,259,439 (GRCm39) missense probably benign 0.00
R4610:Pitpnm2 UTSW 5 124,263,434 (GRCm39) missense probably damaging 0.99
R4786:Pitpnm2 UTSW 5 124,259,806 (GRCm39) nonsense probably null
R4903:Pitpnm2 UTSW 5 124,290,668 (GRCm39) missense probably damaging 1.00
R5151:Pitpnm2 UTSW 5 124,274,449 (GRCm39) missense probably damaging 1.00
R5315:Pitpnm2 UTSW 5 124,259,996 (GRCm39) missense probably benign 0.18
R5592:Pitpnm2 UTSW 5 124,280,212 (GRCm39) missense probably damaging 1.00
R5792:Pitpnm2 UTSW 5 124,268,384 (GRCm39) nonsense probably null
R6846:Pitpnm2 UTSW 5 124,269,234 (GRCm39) missense probably benign 0.00
R6983:Pitpnm2 UTSW 5 124,271,469 (GRCm39) missense probably damaging 1.00
R7096:Pitpnm2 UTSW 5 124,267,324 (GRCm39) missense possibly damaging 0.69
R7188:Pitpnm2 UTSW 5 124,259,366 (GRCm39) missense probably benign 0.31
R7203:Pitpnm2 UTSW 5 124,259,522 (GRCm39) missense probably damaging 0.96
R7237:Pitpnm2 UTSW 5 124,263,360 (GRCm39) critical splice donor site probably null
R7257:Pitpnm2 UTSW 5 124,263,419 (GRCm39) missense possibly damaging 0.88
R7622:Pitpnm2 UTSW 5 124,260,090 (GRCm39) missense probably benign 0.39
R7677:Pitpnm2 UTSW 5 124,261,632 (GRCm39) missense probably damaging 1.00
R7736:Pitpnm2 UTSW 5 124,261,093 (GRCm39) missense possibly damaging 0.47
R7745:Pitpnm2 UTSW 5 124,266,768 (GRCm39) missense probably benign 0.19
R8041:Pitpnm2 UTSW 5 124,259,519 (GRCm39) missense probably damaging 1.00
R9070:Pitpnm2 UTSW 5 124,259,375 (GRCm39) missense probably damaging 1.00
R9218:Pitpnm2 UTSW 5 124,265,344 (GRCm39) missense probably damaging 0.97
R9423:Pitpnm2 UTSW 5 124,271,469 (GRCm39) missense probably benign 0.05
R9438:Pitpnm2 UTSW 5 124,269,342 (GRCm39) missense probably damaging 0.99
R9439:Pitpnm2 UTSW 5 124,278,659 (GRCm39) missense probably damaging 1.00
R9439:Pitpnm2 UTSW 5 124,274,189 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGAATGCTACAAGTCCCCGTGTC -3'
(R):5'- GCCTCAAGGAGAACAACTCATGCTG -3'

Sequencing Primer
(F):5'- CGTGTCCCACCACTGTG -3'
(R):5'- gctacggggtttacattcagg -3'
Posted On 2014-04-24