Incidental Mutation 'IGL02125:Pttg1ip2'
ID 280814
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pttg1ip2
Ensembl Gene ENSMUSG00000079666
Gene Name PTTG1IP family member 2
Synonyms LOC381716, 1700015F17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # IGL02125
Quality Score
Status
Chromosome 5
Chromosomal Location 5487827-5529143 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 5500644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 151 (*151W)
Ref Sequence ENSEMBL: ENSMUSP00000111107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115447] [ENSMUST00000128151] [ENSMUST00000156282]
AlphaFold D3YUK8
Predicted Effect probably null
Transcript: ENSMUST00000115447
AA Change: *151W
SMART Domains Protein: ENSMUSP00000111107
Gene: ENSMUSG00000079666
AA Change: *151W

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 30 41 N/A INTRINSIC
transmembrane domain 99 121 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000128151
AA Change: D55G
Predicted Effect probably benign
Transcript: ENSMUST00000156282
SMART Domains Protein: ENSMUSP00000122651
Gene: ENSMUSG00000079666

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
low complexity region 30 41 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 A T 8: 56,324,974 (GRCm39) C493* probably null Het
Aldh16a1 G A 7: 44,795,459 (GRCm39) P400L probably damaging Het
Ankrd12 A G 17: 66,277,139 (GRCm39) probably benign Het
Anxa5 G A 3: 36,506,413 (GRCm39) T213I probably damaging Het
Baz2b A G 2: 59,798,984 (GRCm39) L380S probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cacna2d2 C T 9: 107,391,103 (GRCm39) Q411* probably null Het
Cdh19 A G 1: 110,857,614 (GRCm39) V240A possibly damaging Het
Cltc A T 11: 86,595,636 (GRCm39) probably benign Het
Dclk3 T A 9: 111,298,175 (GRCm39) V573E probably damaging Het
Dhx29 T C 13: 113,091,834 (GRCm39) probably benign Het
Dip2b T C 15: 100,084,131 (GRCm39) L918P possibly damaging Het
Dzip3 A T 16: 48,747,959 (GRCm39) N1150K probably damaging Het
Fgf5 T C 5: 98,402,391 (GRCm39) S41P possibly damaging Het
Galc A T 12: 98,197,768 (GRCm39) Y120N probably damaging Het
Gldc T C 19: 30,124,641 (GRCm39) N219S probably benign Het
Gm11563 A T 11: 99,549,631 (GRCm39) V41E unknown Het
Gpatch11 T A 17: 79,147,538 (GRCm39) N106K probably benign Het
Gpx3 A G 11: 54,798,068 (GRCm39) N68S probably damaging Het
Ibtk T C 9: 85,617,123 (GRCm39) N150D probably damaging Het
Iglc2 G A 16: 19,017,462 (GRCm39) P48S probably benign Het
Itih5 G A 2: 10,245,798 (GRCm39) R629H probably benign Het
Kank1 T A 19: 25,388,067 (GRCm39) V552E possibly damaging Het
Kmt2a T A 9: 44,759,983 (GRCm39) H655L probably damaging Het
Mme A T 3: 63,256,070 (GRCm39) N510I probably damaging Het
Mrtfb A G 16: 13,218,047 (GRCm39) probably null Het
Obscn A G 11: 58,913,188 (GRCm39) I6943T probably damaging Het
Obscn G T 11: 58,984,152 (GRCm39) Q1768K possibly damaging Het
Or51k2 T A 7: 103,596,279 (GRCm39) C169S probably damaging Het
Or5ac25 T C 16: 59,181,879 (GRCm39) N234S probably benign Het
Otud3 A T 4: 138,624,025 (GRCm39) probably null Het
Parp4 A G 14: 56,827,959 (GRCm39) K237E probably benign Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Rbbp6 T C 7: 122,570,352 (GRCm39) probably null Het
Rdh16 G T 10: 127,647,188 (GRCm39) probably benign Het
Ropn1 A G 16: 34,487,147 (GRCm39) T28A probably benign Het
Sec24d T C 3: 123,152,607 (GRCm39) V873A probably damaging Het
Serpinb3b T A 1: 107,082,474 (GRCm39) L263F probably damaging Het
Shq1 T C 6: 100,607,967 (GRCm39) T315A probably benign Het
Slc13a4 T C 6: 35,255,223 (GRCm39) E355G probably benign Het
Slc26a9 T C 1: 131,687,175 (GRCm39) S445P probably damaging Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Slc4a10 A T 2: 62,098,515 (GRCm39) M550L probably benign Het
Spata31e5 T C 1: 28,815,419 (GRCm39) N871S possibly damaging Het
Syt17 T C 7: 118,009,197 (GRCm39) D341G probably benign Het
Tmem62 A G 2: 120,826,993 (GRCm39) Y430C probably benign Het
Upp1 A G 11: 9,075,650 (GRCm39) probably benign Het
Vmn1r91 T G 7: 19,835,429 (GRCm39) V116G probably damaging Het
Vmn2r101 A T 17: 19,809,963 (GRCm39) I250F possibly damaging Het
Vmn2r116 T G 17: 23,616,601 (GRCm39) probably benign Het
Vmn2r72 C T 7: 85,399,919 (GRCm39) V377I probably benign Het
Zfp592 G T 7: 80,687,932 (GRCm39) A953S probably benign Het
Other mutations in Pttg1ip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02701:Pttg1ip2 APN 5 5,516,623 (GRCm39) critical splice donor site probably null
IGL02821:Pttg1ip2 APN 5 5,502,039 (GRCm39) nonsense probably null
R1029:Pttg1ip2 UTSW 5 5,505,919 (GRCm39) missense probably benign 0.21
R1463:Pttg1ip2 UTSW 5 5,502,073 (GRCm39) splice site probably benign
R1525:Pttg1ip2 UTSW 5 5,502,019 (GRCm39) missense probably benign 0.00
R1550:Pttg1ip2 UTSW 5 5,502,019 (GRCm39) missense probably benign 0.00
R1764:Pttg1ip2 UTSW 5 5,528,943 (GRCm39) missense possibly damaging 0.83
R1911:Pttg1ip2 UTSW 5 5,502,019 (GRCm39) missense probably benign 0.00
R1912:Pttg1ip2 UTSW 5 5,502,019 (GRCm39) missense probably benign 0.00
R1930:Pttg1ip2 UTSW 5 5,502,019 (GRCm39) missense probably benign 0.00
R1931:Pttg1ip2 UTSW 5 5,502,019 (GRCm39) missense probably benign 0.00
R2013:Pttg1ip2 UTSW 5 5,505,964 (GRCm39) missense probably benign 0.00
R2014:Pttg1ip2 UTSW 5 5,505,964 (GRCm39) missense probably benign 0.00
R2015:Pttg1ip2 UTSW 5 5,505,964 (GRCm39) missense probably benign 0.00
R2151:Pttg1ip2 UTSW 5 5,528,875 (GRCm39) missense possibly damaging 0.46
R2420:Pttg1ip2 UTSW 5 5,505,912 (GRCm39) missense probably benign 0.00
R2421:Pttg1ip2 UTSW 5 5,505,912 (GRCm39) missense probably benign 0.00
R3056:Pttg1ip2 UTSW 5 5,507,283 (GRCm39) critical splice donor site probably null
R4012:Pttg1ip2 UTSW 5 5,528,955 (GRCm39) missense probably damaging 1.00
R7136:Pttg1ip2 UTSW 5 5,516,631 (GRCm39) missense possibly damaging 0.91
R7448:Pttg1ip2 UTSW 5 5,505,952 (GRCm39) missense probably benign 0.00
Z1177:Pttg1ip2 UTSW 5 5,507,284 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16