Incidental Mutation 'R3056:Pttg1ip2'
ID 265174
Institutional Source Beutler Lab
Gene Symbol Pttg1ip2
Ensembl Gene ENSMUSG00000079666
Gene Name PTTG1IP family member 2
Synonyms LOC381716, 1700015F17Rik
MMRRC Submission 040565-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R3056 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 5487827-5529143 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 5507283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115447] [ENSMUST00000128151] [ENSMUST00000128151] [ENSMUST00000156282]
AlphaFold D3YUK8
Predicted Effect probably null
Transcript: ENSMUST00000115447
SMART Domains Protein: ENSMUSP00000111107
Gene: ENSMUSG00000079666

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 probably null
Transcript: ENSMUST00000128151
Predicted Effect probably null
Transcript: ENSMUST00000128151
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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A G 4: 144,401,268 (GRCm39) I72T probably benign Het
Abca1 A T 4: 53,127,626 (GRCm39) M131K probably benign Het
Agbl1 C T 7: 76,416,232 (GRCm39) T751M possibly damaging Het
Asb14 A G 14: 26,636,146 (GRCm39) I510V possibly damaging Het
Bard1 A G 1: 71,127,390 (GRCm39) V73A possibly damaging Het
C6 T C 15: 4,769,355 (GRCm39) I187T probably damaging Het
Catsper3 T C 13: 55,956,709 (GRCm39) S376P unknown Het
Ccdc150 A G 1: 54,328,001 (GRCm39) N361S possibly damaging Het
Cntn5 A G 9: 10,419,076 (GRCm39) L7P probably benign Het
Cplane1 T C 15: 8,280,491 (GRCm39) S2805P unknown Het
Cxcr6 A T 9: 123,639,529 (GRCm39) I177F probably damaging Het
Dnah7b A G 1: 46,307,869 (GRCm39) D3061G possibly damaging Het
Epas1 T C 17: 87,138,409 (GRCm39) F835S probably damaging Het
Fat3 C T 9: 15,871,792 (GRCm39) R3533H probably benign Het
Fxr1 A G 3: 34,103,333 (GRCm39) E221G probably damaging Het
Gpatch11 A G 17: 79,151,272 (GRCm39) T228A probably damaging Het
Greb1 G T 12: 16,738,592 (GRCm39) T1457K probably damaging Het
Ighm T A 12: 113,382,596 (GRCm39) probably benign Het
Ints12 G A 3: 132,815,126 (GRCm39) M444I possibly damaging Het
Lmx1b G A 2: 33,457,297 (GRCm39) Q168* probably null Het
Ltbp3 C A 19: 5,801,434 (GRCm39) N659K probably benign Het
Micos13 A G 17: 56,915,889 (GRCm39) F55S probably damaging Het
Mrpl20 G T 4: 155,888,329 (GRCm39) V43F possibly damaging Het
Nlgn1 T C 3: 25,487,860 (GRCm39) N825S possibly damaging Het
Or5d36 T A 2: 87,901,583 (GRCm39) T48S probably benign Het
Or5p67 A T 7: 107,922,757 (GRCm39) V42E possibly damaging Het
Or8k3b C A 2: 86,520,896 (GRCm39) C141F possibly damaging Het
Pccb C T 9: 100,912,250 (GRCm39) R79Q probably damaging Het
Peg10 G A 6: 4,755,029 (GRCm39) R270H possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc4a4 T C 5: 89,373,807 (GRCm39) V971A probably damaging Het
Timm29 T C 9: 21,504,887 (GRCm39) M185T probably damaging Het
Tmem92 C T 11: 94,669,873 (GRCm39) C86Y probably benign Het
Tnfrsf8 C T 4: 145,011,895 (GRCm39) probably null Het
Tnks1bp1 T A 2: 84,900,344 (GRCm39) C1433* probably null Het
Utp14b T A 1: 78,642,442 (GRCm39) D113E possibly damaging Het
Vmn2r110 T A 17: 20,803,360 (GRCm39) Y405F probably damaging Het
Wiz A G 17: 32,576,671 (GRCm39) S628P probably benign Het
Xrcc4 T C 13: 90,210,196 (GRCm39) T83A probably benign Het
Other mutations in Pttg1ip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02125:Pttg1ip2 APN 5 5,500,644 (GRCm39) makesense probably null
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
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
Predicted Primers PCR Primer
(F):5'- AGGTAAGAGCTCTACCTGACTC -3'
(R):5'- TGGCATCTACAGACCACCAATG -3'

Sequencing Primer
(F):5'- GAGCTCTACCTGACTCAACTTATATC -3'
(R):5'- GTATTTGGTGCCGAGAAG -3'
Posted On 2015-02-05