Incidental Mutation 'R2860:Pitpnm2'
ID 252827
Institutional Source Beutler Lab
Gene Symbol Pitpnm2
Ensembl Gene ENSMUSG00000029406
Gene Name phosphatidylinositol transfer protein, membrane-associated 2
Synonyms RDGBA2, NIR3, Rdgb2
MMRRC Submission 040450-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2860 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 124256753-124387823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 124259500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 1224 (H1224Q)
Ref Sequence ENSEMBL: ENSMUSP00000124740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031351] [ENSMUST00000086123] [ENSMUST00000122394] [ENSMUST00000145667] [ENSMUST00000149835] [ENSMUST00000161938] [ENSMUST00000161273] [ENSMUST00000162812] [ENSMUST00000196401]
AlphaFold Q6ZPQ6
Predicted Effect probably benign
Transcript: ENSMUST00000031351
SMART Domains Protein: ENSMUSP00000031351
Gene: ENSMUSG00000029404

DomainStartEndE-ValueType
Pfam:SR-25 7 227 2.7e-104 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000086123
AA Change: H1224Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
AA Change: H1224Q

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: ENSMUST00000122394
SMART Domains Protein: ENSMUSP00000112506
Gene: ENSMUSG00000029404

DomainStartEndE-ValueType
Pfam:SR-25 2 199 6.3e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145667
SMART Domains Protein: ENSMUSP00000122377
Gene: ENSMUSG00000029404

DomainStartEndE-ValueType
Pfam:SR-25 19 227 3e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149835
SMART Domains Protein: ENSMUSP00000116269
Gene: ENSMUSG00000029404

DomainStartEndE-ValueType
low complexity region 5 32 N/A INTRINSIC
SCOP:d1l9ha_ 58 84 7e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159010
Predicted Effect probably benign
Transcript: ENSMUST00000161938
AA Change: H1278Q

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
AA Change: H1278Q

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 noncoding transcript
Transcript: ENSMUST00000161479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159628
Predicted Effect probably benign
Transcript: ENSMUST00000161273
AA Change: H1274Q

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
AA Change: H1274Q

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 probably damaging
Transcript: ENSMUST00000162812
AA Change: H1224Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
AA Change: H1224Q

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: ENSMUST00000196401
SMART Domains Protein: ENSMUSP00000142496
Gene: ENSMUSG00000029404

DomainStartEndE-ValueType
low complexity region 29 50 N/A INTRINSIC
Meta Mutation Damage Score 0.1095 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 100% (44/44)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,259,057 (GRCm39) S2928G probably damaging Het
Abcc9 C T 6: 142,571,736 (GRCm39) V1131M probably benign Het
Abcd1 T A X: 72,781,064 (GRCm39) L713H probably damaging Het
Actg1 T C 11: 120,237,627 (GRCm39) I52V probably benign Het
Ang G T 14: 51,339,275 (GRCm39) D139Y probably damaging Het
Ano1 C T 7: 144,143,749 (GRCm39) G1011E probably damaging Het
Apoe T C 7: 19,431,479 (GRCm39) Y46C probably damaging Het
Ash1l T C 3: 88,961,785 (GRCm39) W2386R probably damaging Het
Asph T C 4: 9,598,277 (GRCm39) D250G probably damaging Het
Atr A G 9: 95,756,296 (GRCm39) N836S probably benign Het
Bltp1 G A 3: 37,019,998 (GRCm39) S2079N probably damaging Het
Btg3 A G 16: 78,161,868 (GRCm39) V114A probably damaging Het
C2 T C 17: 35,082,854 (GRCm39) T471A possibly damaging Het
C4b T A 17: 34,953,732 (GRCm39) S959C probably damaging Het
Cap1 A T 4: 122,758,518 (GRCm39) S221T probably benign Het
Capn2 A T 1: 182,300,485 (GRCm39) probably benign Het
Cd38 A G 5: 44,058,775 (GRCm39) S130G probably damaging Het
Cd8b1 A G 6: 71,311,085 (GRCm39) R202G probably damaging Het
Col22a1 A G 15: 71,687,792 (GRCm39) probably null Het
Cps1 A T 1: 67,205,534 (GRCm39) E519V probably benign Het
Cyp2c38 G A 19: 39,449,138 (GRCm39) R72W probably benign Het
Cyp3a16 A T 5: 145,392,309 (GRCm39) Y215* probably null Het
Dennd10 T C 19: 60,803,232 (GRCm39) S80P probably benign Het
F5 A T 1: 164,012,533 (GRCm39) K482N probably damaging Het
Gab1 T C 8: 81,511,382 (GRCm39) M488V probably benign Het
Gabpb1 A G 2: 126,495,494 (GRCm39) I86T probably damaging Het
Gbx2 C T 1: 89,856,853 (GRCm39) R179Q probably damaging Het
Gm11938 C A 11: 99,493,972 (GRCm39) R41L probably damaging Het
Gpn1 A G 5: 31,654,664 (GRCm39) D72G probably damaging Het
Greb1 A G 12: 16,761,746 (GRCm39) S545P probably benign Het
Hsd3b7 T G 7: 127,401,442 (GRCm39) L189R probably damaging Het
Iglc1 T C 16: 18,880,660 (GRCm39) probably benign Het
Il18r1 T C 1: 40,537,717 (GRCm39) V494A possibly damaging Het
Inka1 T C 9: 107,861,603 (GRCm39) T238A probably benign Het
Itsn2 C A 12: 4,750,315 (GRCm39) probably benign Het
Kcnn1 T C 8: 71,299,179 (GRCm39) K487R probably benign Het
Kdf1 G A 4: 133,255,852 (GRCm39) E190K probably damaging Het
Lama3 G T 18: 12,586,807 (GRCm39) L723F probably damaging Het
Lama5 T C 2: 179,829,040 (GRCm39) T2034A probably benign Het
Maged1 G A X: 93,582,530 (GRCm39) P366S probably damaging Het
Med14 A G X: 12,585,936 (GRCm39) I521T probably benign Het
Mia2 A G 12: 59,201,196 (GRCm39) K841E probably damaging Het
Mrgbp G A 2: 180,225,203 (GRCm39) R53Q possibly damaging Het
Nmnat2 G A 1: 152,988,171 (GRCm39) V267I probably benign Het
Opn4 A G 14: 34,315,785 (GRCm39) probably null Het
Or2d2b T A 7: 106,705,675 (GRCm39) H131L probably benign Het
Or4f56 G T 2: 111,703,818 (GRCm39) C127* probably null Het
Or5p66 A G 7: 107,886,169 (GRCm39) S55P probably damaging Het
Or6k6 A G 1: 173,945,298 (GRCm39) Y95H probably damaging Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Parp16 G T 9: 65,141,086 (GRCm39) D219Y probably damaging Het
Pkd1 C T 17: 24,784,420 (GRCm39) T322I probably benign Het
Pkhd1l1 A C 15: 44,404,267 (GRCm39) T2299P probably damaging Het
Plin4 T C 17: 56,413,668 (GRCm39) D319G probably damaging Het
Ppp6r3 A C 19: 3,571,782 (GRCm39) S122R possibly damaging Het
Pum3 A T 19: 27,397,525 (GRCm39) probably benign Het
Pwwp3b G A X: 138,137,429 (GRCm39) G656S possibly damaging Het
Rims1 A T 1: 22,503,227 (GRCm39) F653I probably benign Het
Rnf113a1 A G X: 36,455,736 (GRCm39) E231G probably damaging Het
Rnf41 T C 10: 128,274,023 (GRCm39) L225P possibly damaging Het
Ryr2 T C 13: 11,607,979 (GRCm39) E876G probably damaging Het
Slc25a10 G A 11: 120,386,003 (GRCm39) V115M probably damaging Het
Snx13 T A 12: 35,188,116 (GRCm39) I798N probably benign Het
Sri A T 5: 8,117,540 (GRCm39) Q178L probably benign Het
Tex14 T G 11: 87,365,243 (GRCm39) D62E probably damaging Het
Tshz1 G T 18: 84,033,105 (GRCm39) H434Q probably damaging Het
Vegfd A G X: 163,168,879 (GRCm39) E57G probably damaging Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Vmn2r59 A G 7: 41,696,427 (GRCm39) I105T possibly damaging Het
Vmn2r6 G T 3: 64,454,760 (GRCm39) T513N probably benign Het
Vmn2r72 A T 7: 85,400,044 (GRCm39) I335N probably damaging Het
Wiz G T 17: 32,580,680 (GRCm39) T257K probably damaging Het
Xirp1 A G 9: 119,847,444 (GRCm39) S41P probably benign Het
Xirp1 T C 9: 119,848,881 (GRCm39) M1V probably null 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
R1625:Pitpnm2 UTSW 5 124,271,496 (GRCm39) missense probably benign 0.05
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
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'- TCCTGAGAGTGTCCTACTTGGG -3'
(R):5'- AAGGGCACACATTCCTTGG -3'

Sequencing Primer
(F):5'- AGTGTCCTACTTGGGTCCCG -3'
(R):5'- ACTTAACAGCCTGCCCCTG -3'
Posted On 2014-12-04