Incidental Mutation 'R0840:Pgap2'
ID 77110
Institutional Source Beutler Lab
Gene Symbol Pgap2
Ensembl Gene ENSMUSG00000030990
Gene Name post-GPI attachment to proteins 2
Synonyms 1810006G21Rik, clpex, Frag1
MMRRC Submission 039019-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0840 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 101859415-101887774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101886655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 226 (M226L)
Ref Sequence ENSEMBL: ENSMUSP00000113574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033292] [ENSMUST00000098230] [ENSMUST00000106923] [ENSMUST00000119816] [ENSMUST00000120119] [ENSMUST00000120879] [ENSMUST00000142873] [ENSMUST00000129340] [ENSMUST00000138753] [ENSMUST00000143541] [ENSMUST00000140058] [ENSMUST00000126914] [ENSMUST00000145352] [ENSMUST00000138479] [ENSMUST00000156529] [ENSMUST00000209968] [ENSMUST00000153020]
AlphaFold Q3TQR0
Predicted Effect possibly damaging
Transcript: ENSMUST00000033292
AA Change: M228L

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033292
Gene: ENSMUSG00000030990
AA Change: M228L

DomainStartEndE-ValueType
Pfam:Frag1 18 241 2e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098230
SMART Domains Protein: ENSMUSP00000095832
Gene: ENSMUSG00000073982

DomainStartEndE-ValueType
RHO 6 179 1.87e-133 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106923
SMART Domains Protein: ENSMUSP00000102536
Gene: ENSMUSG00000073982

DomainStartEndE-ValueType
RHO 6 179 1.87e-133 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119816
SMART Domains Protein: ENSMUSP00000113261
Gene: ENSMUSG00000030990

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120119
AA Change: M226L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113574
Gene: ENSMUSG00000030990
AA Change: M226L

DomainStartEndE-ValueType
Pfam:Frag1 16 239 1.6e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120879
AA Change: M224L

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114016
Gene: ENSMUSG00000030990
AA Change: M224L

DomainStartEndE-ValueType
Pfam:Frag1 18 237 7.2e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134621
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133311
Predicted Effect probably benign
Transcript: ENSMUST00000142873
SMART Domains Protein: ENSMUSP00000121988
Gene: ENSMUSG00000030990

DomainStartEndE-ValueType
Pfam:Frag1 18 136 3.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129340
SMART Domains Protein: ENSMUSP00000119692
Gene: ENSMUSG00000030990

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138753
SMART Domains Protein: ENSMUSP00000116858
Gene: ENSMUSG00000030990

DomainStartEndE-ValueType
Pfam:Frag1 18 123 9.1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143541
SMART Domains Protein: ENSMUSP00000117450
Gene: ENSMUSG00000030990

DomainStartEndE-ValueType
Pfam:Frag1 18 79 2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140058
SMART Domains Protein: ENSMUSP00000122482
Gene: ENSMUSG00000030990

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126914
SMART Domains Protein: ENSMUSP00000114853
Gene: ENSMUSG00000030990

DomainStartEndE-ValueType
Pfam:Frag1 18 101 6.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145352
SMART Domains Protein: ENSMUSP00000123523
Gene: ENSMUSG00000030990

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138479
SMART Domains Protein: ENSMUSP00000115590
Gene: ENSMUSG00000030990

DomainStartEndE-ValueType
Pfam:Frag1 18 209 5.9e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000156529
AA Change: M224L

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121521
Gene: ENSMUSG00000030990
AA Change: M224L

DomainStartEndE-ValueType
Pfam:Frag1 18 237 7.2e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150891
Predicted Effect probably benign
Transcript: ENSMUST00000209968
Predicted Effect probably benign
Transcript: ENSMUST00000153020
SMART Domains Protein: ENSMUSP00000123570
Gene: ENSMUSG00000030990

DomainStartEndE-ValueType
Pfam:Frag1 18 209 5.9e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214560
Meta Mutation Damage Score 0.3595 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.1%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C G 12: 71,205,657 (GRCm39) Q434E probably benign Het
A930011G23Rik T C 5: 99,382,547 (GRCm39) T234A probably benign Het
Acot5 G A 12: 84,122,614 (GRCm39) W399* probably null Het
Adra1a A G 14: 66,965,159 (GRCm39) E383G possibly damaging Het
Ahnak T A 19: 8,982,427 (GRCm39) I1237N probably damaging Het
Bsg A G 10: 79,545,519 (GRCm39) T28A probably damaging Het
Cacna1i A T 15: 80,243,150 (GRCm39) I436F possibly damaging Het
Cd109 T C 9: 78,571,612 (GRCm39) I417T probably benign Het
Cep295 A T 9: 15,245,611 (GRCm39) D948E probably benign Het
Cfap92 G T 6: 87,657,260 (GRCm39) noncoding transcript Het
Clcn3 C A 8: 61,382,188 (GRCm39) V467F probably benign Het
Cntnap3 T C 13: 64,935,724 (GRCm39) S380G possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dll4 T A 2: 119,156,966 (GRCm39) N79K probably benign Het
Ep300 A T 15: 81,529,134 (GRCm39) N1558I unknown Het
Fblim1 A G 4: 141,308,320 (GRCm39) F330L possibly damaging Het
Fbxo46 T A 7: 18,871,073 (GRCm39) M564K possibly damaging Het
Fnip1 T A 11: 54,384,007 (GRCm39) probably benign Het
Foxl2 A T 9: 98,837,984 (GRCm39) K91* probably null Het
Gapvd1 C A 2: 34,619,125 (GRCm39) V83F probably benign Het
Guk1 G A 11: 59,075,921 (GRCm39) R146C probably damaging Het
Irf8 G A 8: 121,480,220 (GRCm39) G153S probably benign Het
Kcnu1 T A 8: 26,403,712 (GRCm39) M1K probably null Het
Krt32 G A 11: 99,972,068 (GRCm39) P427S probably benign Het
Lrp12 A G 15: 39,739,554 (GRCm39) S529P probably damaging Het
Mettl22 T C 16: 8,300,021 (GRCm39) V134A probably damaging Het
Morc2b G T 17: 33,355,086 (GRCm39) H895Q probably benign Het
Nrros T C 16: 31,962,241 (GRCm39) D556G probably damaging Het
Nrxn3 A G 12: 90,298,567 (GRCm39) S1367G possibly damaging Het
Or10al7 A G 17: 38,366,463 (GRCm39) F7S probably benign Het
Or56b1b A T 7: 108,164,823 (GRCm39) S60T probably benign Het
Pcnx3 T A 19: 5,735,729 (GRCm39) probably null Het
Pik3c2g A G 6: 139,841,798 (GRCm39) I616M probably damaging Het
Pisd A G 5: 32,894,656 (GRCm39) I380T probably damaging Het
Pkhd1 T C 1: 20,420,745 (GRCm39) I2454V probably damaging Het
Plpp2 A G 10: 79,363,378 (GRCm39) I151T probably benign Het
Polr3a G A 14: 24,502,268 (GRCm39) T1295I possibly damaging Het
Pot1a T C 6: 25,748,283 (GRCm39) probably benign Het
Prpf39 T G 12: 65,094,980 (GRCm39) N219K probably benign Het
Rnf17 T A 14: 56,712,904 (GRCm39) N790K probably damaging Het
Slit3 C T 11: 35,514,263 (GRCm39) probably benign Het
Stx1a T A 5: 135,070,088 (GRCm39) probably benign Het
Tenm3 C A 8: 48,788,777 (GRCm39) V690F probably damaging Het
Tmcc3 A G 10: 94,414,633 (GRCm39) I143V probably benign Het
Tmem41b G A 7: 109,580,256 (GRCm39) S36F probably damaging Het
Trim5 A T 7: 103,914,978 (GRCm39) W364R probably damaging Het
Ttn T C 2: 76,617,155 (GRCm39) Y16403C probably damaging Het
Vps8 T C 16: 21,275,071 (GRCm39) S210P probably damaging Het
Zbtb3 T A 19: 8,780,821 (GRCm39) S145T possibly damaging Het
Zfp882 T A 8: 72,668,530 (GRCm39) C452* probably null Het
Other mutations in Pgap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01073:Pgap2 APN 7 101,875,661 (GRCm39) splice site probably benign
IGL01363:Pgap2 APN 7 101,875,489 (GRCm39) start codon destroyed probably null 1.00
IGL02352:Pgap2 APN 7 101,885,346 (GRCm39) missense probably damaging 1.00
IGL02359:Pgap2 APN 7 101,885,346 (GRCm39) missense probably damaging 1.00
IGL02638:Pgap2 APN 7 101,886,629 (GRCm39) missense probably damaging 1.00
IGL03097:Pgap2 UTSW 7 101,885,434 (GRCm39) missense probably damaging 1.00
PIT4131001:Pgap2 UTSW 7 101,886,405 (GRCm39) missense possibly damaging 0.45
R0452:Pgap2 UTSW 7 101,885,669 (GRCm39) missense probably damaging 1.00
R0747:Pgap2 UTSW 7 101,886,343 (GRCm39) nonsense probably null
R4551:Pgap2 UTSW 7 101,875,674 (GRCm39) intron probably benign
R5122:Pgap2 UTSW 7 101,880,598 (GRCm39) missense probably damaging 1.00
R6440:Pgap2 UTSW 7 101,886,594 (GRCm39) splice site probably null
R7358:Pgap2 UTSW 7 101,859,774 (GRCm39) unclassified probably benign
R7363:Pgap2 UTSW 7 101,875,467 (GRCm39) splice site probably null
R7405:Pgap2 UTSW 7 101,880,595 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GAGTCTAAGATGGAAGCCCACCAAC -3'
(R):5'- AGGACCTTTCAGTGAATGGTGATGC -3'

Sequencing Primer
(F):5'- CTTTAGGATCGCAAGTCCTACAG -3'
(R):5'- TCTTGAAGATCCCCATGAGTG -3'
Posted On 2013-10-16