Incidental Mutation 'IGL02385:Gltpd2'
ID291483
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gltpd2
Ensembl Gene ENSMUSG00000046811
Gene Nameglycolipid transfer protein domain containing 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL02385
Quality Score
Status
Chromosome11
Chromosomal Location70519196-70520736 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 70519996 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 152 (F152I)
Ref Sequence ENSEMBL: ENSMUSP00000049732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057685] [ENSMUST00000179000]
Predicted Effect probably damaging
Transcript: ENSMUST00000057685
AA Change: F152I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000049732
Gene: ENSMUSG00000046811
AA Change: F152I

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 58 72 N/A INTRINSIC
Pfam:GLTP 129 283 6.6e-35 PFAM
low complexity region 286 302 N/A INTRINSIC
low complexity region 309 321 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122307
Predicted Effect probably damaging
Transcript: ENSMUST00000179000
AA Change: F38I

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136029
Gene: ENSMUSG00000046811
AA Change: F38I

DomainStartEndE-ValueType
Pfam:GLTP 13 171 2.3e-40 PFAM
low complexity region 172 188 N/A INTRINSIC
low complexity region 195 207 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,154,856 D351E probably damaging Het
4930452B06Rik A G 14: 8,510,920 V498A possibly damaging Het
Adad2 A G 8: 119,615,034 probably benign Het
Adamts8 A G 9: 30,961,730 N744D probably benign Het
Atad5 C T 11: 80,094,627 T180I probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Bcl9 A T 3: 97,209,278 I700K probably benign Het
Bcr T C 10: 75,145,403 S685P probably damaging Het
Cd36 A G 5: 17,814,719 V128A probably benign Het
Chd2 T C 7: 73,435,822 Y1688C probably damaging Het
Csmd1 A G 8: 15,903,275 V3402A probably benign Het
Dsg3 T C 18: 20,527,714 V370A probably damaging Het
Dus4l A G 12: 31,640,675 probably benign Het
Fcrlb A G 1: 170,907,599 S320P probably damaging Het
Fer1l4 T C 2: 156,045,428 D616G probably benign Het
Fxr2 C T 11: 69,652,269 R631C possibly damaging Het
Gpt2 T A 8: 85,516,153 probably null Het
Hsd3b6 A T 3: 98,806,572 I137K possibly damaging Het
Kcna6 A G 6: 126,738,954 V324A probably benign Het
Kcnu1 C T 8: 25,932,270 L188F probably damaging Het
Kdm1b A G 13: 47,068,506 I474V possibly damaging Het
Kifap3 C T 1: 163,865,444 Q602* probably null Het
Lrp4 T A 2: 91,474,720 C231S possibly damaging Het
Lrrc63 T C 14: 75,086,200 D528G probably benign Het
Nosip C A 7: 45,076,732 R240S possibly damaging Het
Olfr1287 A G 2: 111,449,350 D70G probably damaging Het
Olfr1308 G A 2: 111,960,258 P272S probably benign Het
Olfr742 T C 14: 50,515,443 S80P probably damaging Het
Orc5 A T 5: 22,526,440 D231E probably damaging Het
Poli A T 18: 70,526,574 M62K possibly damaging Het
Ppp1r13b A C 12: 111,835,043 S402R probably damaging Het
Prl3b1 T C 13: 27,249,383 S174P possibly damaging Het
Ptpra T C 2: 130,540,473 probably benign Het
Sfpq T A 4: 127,026,136 probably null Het
Sh3bp1 T A 15: 78,905,888 probably benign Het
Slc7a2 T G 8: 40,899,011 V37G probably damaging Het
Smc1a A T X: 152,037,659 E794D possibly damaging Het
Sox6 T C 7: 115,550,039 R366G possibly damaging Het
Spaca7 A G 8: 12,586,498 N108S possibly damaging Het
Spon1 T G 7: 113,766,330 M1R probably null Het
Sult6b2 T C 6: 142,801,772 R84G probably benign Het
Syt2 A G 1: 134,745,815 N299S probably benign Het
Syvn1 T C 19: 6,048,540 V104A probably damaging Het
Tbpl1 A G 10: 22,707,669 L134P probably damaging Het
Tex11 A T X: 100,876,529 probably benign Het
Tnfrsf21 A G 17: 43,040,051 S369G probably damaging Het
Tram1l1 T C 3: 124,322,058 V289A probably benign Het
Ttyh3 A T 5: 140,633,305 F277L probably benign Het
Vmn2r17 T G 5: 109,434,381 N545K probably damaging Het
Wdr20 A T 12: 110,793,223 H181L probably benign Het
Zscan20 A G 4: 128,604,599 M2T possibly damaging Het
Other mutations in Gltpd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02938:Gltpd2 APN 11 70519811 missense probably damaging 1.00
R0894:Gltpd2 UTSW 11 70519709 utr 5 prime probably benign
R4705:Gltpd2 UTSW 11 70520140 nonsense probably null
R4817:Gltpd2 UTSW 11 70519477 missense probably damaging 1.00
R5928:Gltpd2 UTSW 11 70519353 missense probably benign 0.01
R6971:Gltpd2 UTSW 11 70520464 missense probably damaging 1.00
R6983:Gltpd2 UTSW 11 70520284 missense probably damaging 1.00
R7576:Gltpd2 UTSW 11 70519480 critical splice donor site probably null
Posted On2015-04-16