Incidental Mutation 'R6177:Jdp2'
ID 512271
Institutional Source Beutler Lab
Gene Symbol Jdp2
Ensembl Gene ENSMUSG00000034271
Gene Name Jun dimerization protein 2
Synonyms Jundm2, TIF
MMRRC Submission 044319-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.199) question?
Stock # R6177 (G1)
Quality Score 65.0073
Status Validated
Chromosome 12
Chromosomal Location 85645801-85686652 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 85685614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 125 (R125L)
Ref Sequence ENSEMBL: ENSMUSP00000136823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050687] [ENSMUST00000171754] [ENSMUST00000177587]
AlphaFold P97875
Predicted Effect probably benign
Transcript: ENSMUST00000050687
AA Change: R125L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000059724
Gene: ENSMUSG00000034271
AA Change: R125L

DomainStartEndE-ValueType
low complexity region 12 30 N/A INTRINSIC
BRLZ 70 134 6.61e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171754
AA Change: R125L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000129985
Gene: ENSMUSG00000034271
AA Change: R125L

DomainStartEndE-ValueType
low complexity region 12 30 N/A INTRINSIC
BRLZ 70 134 6.61e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177587
AA Change: R125L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136823
Gene: ENSMUSG00000034271
AA Change: R125L

DomainStartEndE-ValueType
low complexity region 12 30 N/A INTRINSIC
BRLZ 70 134 6.61e-15 SMART
Meta Mutation Damage Score 0.1625 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.7%
Validation Efficiency 100% (65/65)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit increased white adipose tissue differentiation, short tail, and enhanced would healing due to increased cell proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T C 15: 91,074,896 (GRCm39) I306V probably damaging Het
Actrt3 A T 3: 30,652,316 (GRCm39) Y259* probably null Het
Ankfy1 G A 11: 72,645,285 (GRCm39) C788Y probably benign Het
Ano1 T A 7: 144,232,478 (GRCm39) M25L possibly damaging Het
Apol10b A T 15: 77,469,987 (GRCm39) D63E possibly damaging Het
Atp6v1c1 C A 15: 38,674,172 (GRCm39) S55* probably null Het
C1s2 T G 6: 124,606,960 (GRCm39) D296A probably damaging Het
Cabs1 C T 5: 88,127,613 (GRCm39) T88I possibly damaging Het
Cadm4 G A 7: 24,202,186 (GRCm39) V342M possibly damaging Het
Cat T C 2: 103,303,420 (GRCm39) E119G probably damaging Het
Cavin2 G T 1: 51,328,654 (GRCm39) S37I probably damaging Het
Cdhr18 T C 14: 13,868,002 (GRCm38) D229G probably benign Het
Cdk5rap2 G A 4: 70,199,719 (GRCm39) R802C probably damaging Het
Clip1 A G 5: 123,751,897 (GRCm39) probably benign Het
Dhx57 T C 17: 80,580,395 (GRCm39) N519S possibly damaging Het
Dpep2 T C 8: 106,712,831 (GRCm39) D260G probably damaging Het
Edem1 T A 6: 108,828,159 (GRCm39) probably null Het
Epb41l4a A T 18: 33,931,868 (GRCm39) probably null Het
Esp1 T C 17: 41,039,723 (GRCm39) S3P possibly damaging Het
Fam111a A G 19: 12,564,746 (GRCm39) Y165C probably damaging Het
Fstl4 A G 11: 53,059,031 (GRCm39) T497A probably benign Het
Gstcd T C 3: 132,787,834 (GRCm39) D288G probably damaging Het
Hmcn2 T A 2: 31,310,118 (GRCm39) L3264* probably null Het
Hyal4 T A 6: 24,766,089 (GRCm39) L481* probably null Het
Ighv2-7 A G 12: 113,771,055 (GRCm39) Y77H possibly damaging Het
Lrp1b A T 2: 41,013,748 (GRCm39) probably null Het
Lrp2 AC A 2: 69,340,763 (GRCm39) probably null Het
Marveld2 C T 13: 100,733,886 (GRCm39) D250N probably damaging Het
Mast3 A G 8: 71,242,662 (GRCm39) S53P probably damaging Het
Ms4a20 A G 19: 11,083,114 (GRCm39) I102T possibly damaging Het
Myo3b T C 2: 70,143,707 (GRCm39) V1041A probably benign Het
Nkpd1 T A 7: 19,257,009 (GRCm39) F113I probably damaging Het
Obscn A G 11: 58,923,490 (GRCm39) S6470P probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or4a73 T C 2: 89,420,661 (GRCm39) D266G possibly damaging Het
Or9g4b C T 2: 85,616,004 (GRCm39) R50C probably damaging Het
Pdcd11 G T 19: 47,108,722 (GRCm39) G1246V probably damaging Het
Phc3 A T 3: 30,996,714 (GRCm39) S219T probably damaging Het
Plxnb1 C T 9: 108,931,993 (GRCm39) probably null Het
Polh T C 17: 46,495,670 (GRCm39) D276G possibly damaging Het
Polq T A 16: 36,892,071 (GRCm39) V1991E probably damaging Het
Polr2g G A 19: 8,771,541 (GRCm39) R144C probably damaging Het
Pramel16 G A 4: 143,675,576 (GRCm39) H417Y possibly damaging Het
Prex2 A C 1: 11,207,001 (GRCm39) T520P possibly damaging Het
Psg21 T A 7: 18,386,279 (GRCm39) T236S possibly damaging Het
Ptpru A T 4: 131,520,836 (GRCm39) S761R probably benign Het
Rapgef6 G A 11: 54,510,842 (GRCm39) R253Q probably damaging Het
Rc3h2 C T 2: 37,279,658 (GRCm39) V524I probably benign Het
Sde2 T C 1: 180,685,784 (GRCm39) V112A probably damaging Het
Septin7 T C 9: 25,205,100 (GRCm39) probably null Het
Spef2 A G 15: 9,727,618 (GRCm39) V155A possibly damaging Het
St7 T C 6: 17,819,333 (GRCm39) probably null Het
Tmcc3 A T 10: 94,418,249 (GRCm39) Y339F probably damaging Het
Tmed6 T C 8: 107,792,083 (GRCm39) E54G probably damaging Het
Tnks1bp1 C T 2: 84,889,624 (GRCm39) probably benign Het
Trim43c T C 9: 88,722,600 (GRCm39) L82P possibly damaging Het
Txndc2 T C 17: 65,945,466 (GRCm39) D237G probably benign Het
Vmn1r91 T A 7: 19,835,404 (GRCm39) C108S possibly damaging Het
Vtn A T 11: 78,390,836 (GRCm39) D165V probably damaging Het
Wdr3 A T 3: 100,068,468 (GRCm39) S13R probably damaging Het
Zdhhc16 A G 19: 41,926,198 (GRCm39) Y31C probably benign Het
Zfp39 A T 11: 58,781,887 (GRCm39) W292R probably benign Het
Zfp612 A T 8: 110,816,606 (GRCm39) L604F probably damaging Het
Other mutations in Jdp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:Jdp2 APN 12 85,655,020 (GRCm39) missense probably benign 0.22
PIT4305001:Jdp2 UTSW 12 85,685,626 (GRCm39) missense probably damaging 1.00
R6435:Jdp2 UTSW 12 85,655,132 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCATGCCAGCAGTACAGG -3'
(R):5'- TCATAGAGTTTGTCACGTGCC -3'

Sequencing Primer
(F):5'- TACAGGTGCCAGCCATAATG -3'
(R):5'- TGTCACGTGCCTGGGAG -3'
Posted On 2018-04-19