Incidental Mutation 'R8255:Gpaa1'
ID 640626
Institutional Source Beutler Lab
Gene Symbol Gpaa1
Ensembl Gene ENSMUSG00000022561
Gene Name GPI anchor attachment protein 1
Synonyms mGAA1
MMRRC Submission 067681-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8255 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 76215494-76219099 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76217438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 292 (L292P)
Ref Sequence ENSEMBL: ENSMUSP00000023221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023221] [ENSMUST00000059045] [ENSMUST00000164972] [ENSMUST00000169378] [ENSMUST00000170121] [ENSMUST00000172281]
AlphaFold Q9WTK3
Predicted Effect probably damaging
Transcript: ENSMUST00000023221
AA Change: L292P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023221
Gene: ENSMUSG00000022561
AA Change: L292P

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
low complexity region 68 81 N/A INTRINSIC
Pfam:Gaa1 125 615 3.8e-155 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000059045
SMART Domains Protein: ENSMUSP00000050940
Gene: ENSMUSG00000034259

DomainStartEndE-ValueType
Pfam:RNase_PH 21 152 5.1e-37 PFAM
Pfam:RNase_PH_C 155 220 1.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164972
SMART Domains Protein: ENSMUSP00000127108
Gene: ENSMUSG00000022561

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000168948
SMART Domains Protein: ENSMUSP00000126326
Gene: ENSMUSG00000022561

DomainStartEndE-ValueType
Pfam:Gaa1 1 129 1.9e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169378
SMART Domains Protein: ENSMUSP00000128507
Gene: ENSMUSG00000022561

DomainStartEndE-ValueType
low complexity region 19 32 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170121
SMART Domains Protein: ENSMUSP00000133173
Gene: ENSMUSG00000022561

DomainStartEndE-ValueType
low complexity region 9 22 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172281
AA Change: L232P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132986
Gene: ENSMUSG00000022561
AA Change: L232P

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Gaa1 64 560 3e-205 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,415,850 (GRCm39) T648S possibly damaging Het
Abca12 T A 1: 71,359,058 (GRCm39) I583F probably benign Het
Abca4 A T 3: 121,948,926 (GRCm39) M1732L probably benign Het
Ank2 A G 3: 126,740,398 (GRCm39) S1742P unknown Het
Birc6 G A 17: 74,969,775 (GRCm39) A4273T probably damaging Het
Chd5 A G 4: 152,463,880 (GRCm39) T1450A probably damaging Het
Dhx32 T C 7: 133,339,120 (GRCm39) N305S probably benign Het
Dnah7c T C 1: 46,698,589 (GRCm39) S2174P probably damaging Het
Fat2 T A 11: 55,161,101 (GRCm39) I3210F probably benign Het
Gm12888 A G 4: 121,181,994 (GRCm39) S33P probably damaging Het
Gzmg T A 14: 56,395,753 (GRCm39) R69W probably damaging Het
Hat1 A G 2: 71,239,347 (GRCm39) D40G probably damaging Het
Hcrtr2 T A 9: 76,140,203 (GRCm39) I362F probably damaging Het
Hmmr T C 11: 40,598,262 (GRCm39) E650G probably damaging Het
Ifi35 A T 11: 101,348,608 (GRCm39) M180L probably benign Het
Ifi44 A T 3: 151,451,619 (GRCm39) H162Q probably benign Het
Il1rl2 T C 1: 40,404,471 (GRCm39) F531L probably damaging Het
Ipcef1 T G 10: 6,870,007 (GRCm39) K182T probably benign Het
Med27 C A 2: 29,414,376 (GRCm39) probably null Het
Med31 G A 11: 72,106,294 (GRCm39) probably benign Het
Moxd1 A G 10: 24,099,700 (GRCm39) T67A probably benign Het
Myh3 A G 11: 66,985,848 (GRCm39) E1266G probably damaging Het
Nkx2-4 C A 2: 146,925,924 (GRCm39) E313* probably null Het
Nol6 G T 4: 41,120,168 (GRCm39) R487S probably benign Het
Or2v1 C A 11: 49,025,307 (GRCm39) A96D probably benign Het
Or2z8 T A 8: 72,811,607 (GRCm39) F28I possibly damaging Het
Or4k15c C T 14: 50,321,329 (GRCm39) V270I noncoding transcript Het
Or5p51 A G 7: 107,444,368 (GRCm39) S191P probably damaging Het
Rnf135 A G 11: 80,084,713 (GRCm39) D162G probably benign Het
Sdr42e1 G T 8: 118,390,502 (GRCm39) N46K probably benign Het
Skor2 T C 18: 76,946,664 (GRCm39) S129P unknown Het
Slc7a11 A T 3: 50,382,177 (GRCm39) I190N probably damaging Het
Smc5 A T 19: 23,186,290 (GRCm39) F1056I Het
Son A T 16: 91,461,824 (GRCm39) Q2243L unknown Het
Sult1a1 T A 7: 126,274,280 (GRCm39) I101F possibly damaging Het
Sult3a2 T C 10: 33,655,747 (GRCm39) I77M probably benign Het
Tas1r1 A T 4: 152,116,774 (GRCm39) S287T probably benign Het
Thbs3 A C 3: 89,132,565 (GRCm39) T836P probably benign Het
Tlcd3b G A 7: 126,423,275 (GRCm39) V6M probably benign Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tnfrsf8 A T 4: 145,041,653 (GRCm39) M1K probably null Het
Vmn1r121 T G 7: 20,831,679 (GRCm39) N254H probably benign Het
Vmn1r179 C T 7: 23,628,436 (GRCm39) A209V probably benign Het
Wdr31 A T 4: 62,381,634 (GRCm39) S66T probably benign Het
Zbtb18 T C 1: 177,275,003 (GRCm39) V121A probably damaging Het
Zfp30 T A 7: 29,488,826 (GRCm39) M82K probably benign Het
Zzef1 A G 11: 72,765,955 (GRCm39) Q1494R probably benign Het
Other mutations in Gpaa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01869:Gpaa1 APN 15 76,217,198 (GRCm39) missense probably benign
IGL02040:Gpaa1 APN 15 76,218,495 (GRCm39) missense probably benign 0.17
IGL02162:Gpaa1 APN 15 76,216,353 (GRCm39) unclassified probably benign
IGL02430:Gpaa1 APN 15 76,216,388 (GRCm39) missense possibly damaging 0.93
IGL02951:Gpaa1 APN 15 76,217,019 (GRCm39) unclassified probably benign
PIT4466001:Gpaa1 UTSW 15 76,218,940 (GRCm39) missense probably benign 0.03
PIT4472001:Gpaa1 UTSW 15 76,218,940 (GRCm39) missense probably benign 0.03
R0137:Gpaa1 UTSW 15 76,218,981 (GRCm39) missense probably damaging 1.00
R0458:Gpaa1 UTSW 15 76,216,233 (GRCm39) missense probably benign 0.06
R0760:Gpaa1 UTSW 15 76,216,119 (GRCm39) missense probably benign 0.01
R1681:Gpaa1 UTSW 15 76,215,653 (GRCm39) missense probably benign
R1691:Gpaa1 UTSW 15 76,216,416 (GRCm39) missense probably damaging 0.99
R2124:Gpaa1 UTSW 15 76,217,552 (GRCm39) missense probably damaging 1.00
R4165:Gpaa1 UTSW 15 76,216,667 (GRCm39) unclassified probably benign
R4166:Gpaa1 UTSW 15 76,216,667 (GRCm39) unclassified probably benign
R4775:Gpaa1 UTSW 15 76,218,891 (GRCm39) splice site probably null
R4844:Gpaa1 UTSW 15 76,216,508 (GRCm39) unclassified probably benign
R5007:Gpaa1 UTSW 15 76,215,868 (GRCm39) nonsense probably null
R5331:Gpaa1 UTSW 15 76,216,511 (GRCm39) unclassified probably benign
R5804:Gpaa1 UTSW 15 76,216,826 (GRCm39) missense probably damaging 1.00
R5828:Gpaa1 UTSW 15 76,216,471 (GRCm39) unclassified probably benign
R6221:Gpaa1 UTSW 15 76,218,032 (GRCm39) missense probably benign 0.00
R7408:Gpaa1 UTSW 15 76,217,193 (GRCm39) missense probably damaging 1.00
R8309:Gpaa1 UTSW 15 76,216,160 (GRCm39) missense possibly damaging 0.81
R9376:Gpaa1 UTSW 15 76,218,826 (GRCm39) missense possibly damaging 0.88
R9402:Gpaa1 UTSW 15 76,216,418 (GRCm39) missense probably benign 0.00
Z1088:Gpaa1 UTSW 15 76,216,742 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TCAGCTGCCCAACCTTGATC -3'
(R):5'- GCTAGACATGACCTTGAACACG -3'

Sequencing Primer
(F):5'- TTCCAGACCTTCTGCCAGAAAGG -3'
(R):5'- CTAGACATGACCTTGAACACGGAAAG -3'
Posted On 2020-07-28