Incidental Mutation 'IGL01347:Pja2'
ID75094
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pja2
Ensembl Gene ENSMUSG00000024083
Gene Namepraja ring finger ubiquitin ligase 2
SynonymsNeurodap1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01347
Quality Score
Status
Chromosome17
Chromosomal Location64281005-64331916 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 64313028 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 2 (S2A)
Ref Sequence ENSEMBL: ENSMUSP00000134380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024888] [ENSMUST00000024889] [ENSMUST00000172733] [ENSMUST00000172818]
Predicted Effect probably benign
Transcript: ENSMUST00000024888
AA Change: S2A

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000024888
Gene: ENSMUSG00000024083
AA Change: S2A

DomainStartEndE-ValueType
low complexity region 532 548 N/A INTRINSIC
RING 633 673 3.84e-6 SMART
low complexity region 678 703 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000024889
AA Change: S2A

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000024889
Gene: ENSMUSG00000024083
AA Change: S2A

DomainStartEndE-ValueType
low complexity region 470 486 N/A INTRINSIC
RING 571 611 3.84e-6 SMART
low complexity region 616 641 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172733
AA Change: S2A

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133730
Gene: ENSMUSG00000024083
AA Change: S2A

DomainStartEndE-ValueType
low complexity region 470 486 N/A INTRINSIC
RING 571 611 3.84e-6 SMART
low complexity region 616 641 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172818
AA Change: S2A

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134380
Gene: ENSMUSG00000024083
AA Change: S2A

DomainStartEndE-ValueType
low complexity region 532 548 N/A INTRINSIC
RING 633 673 3.84e-6 SMART
low complexity region 678 703 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,932,543 Y574F probably benign Het
Apc C T 18: 34,317,670 P2506S probably damaging Het
Bdp1 T A 13: 100,070,203 K610N possibly damaging Het
Bri3bp T G 5: 125,454,517 C176G probably damaging Het
Carnmt1 A G 19: 18,691,454 I248V probably benign Het
Ccdc88b A G 19: 6,845,086 L1475P probably damaging Het
Cfap100 C T 6: 90,406,121 V511M possibly damaging Het
Chchd3 T C 6: 32,803,903 N78S probably benign Het
Cnnm4 G A 1: 36,498,034 E480K possibly damaging Het
Cyp2d34 T A 15: 82,616,777 I385F possibly damaging Het
D930048N14Rik T A 11: 51,654,788 probably benign Het
Dgkg A T 16: 22,600,590 D53E probably benign Het
Dlx3 T A 11: 95,120,533 L71H probably damaging Het
Egln2 A C 7: 27,160,292 V332G probably null Het
Entpd2 A G 2: 25,398,734 Q250R probably benign Het
Epyc A G 10: 97,674,731 D132G probably damaging Het
Fxr2 A G 11: 69,652,288 D637G probably benign Het
Gapvd1 A G 2: 34,706,696 probably null Het
Gbp11 G A 5: 105,331,328 probably benign Het
Gm17175 A T 14: 51,570,850 C162S probably damaging Het
Gm5499 C T 17: 87,078,911 noncoding transcript Het
Gm5724 A T 6: 141,754,466 Y113* probably null Het
Gps1 T C 11: 120,788,260 V378A probably benign Het
Grik1 C T 16: 87,957,593 R368Q probably benign Het
Gsap A G 5: 21,226,320 E214G probably benign Het
Hist1h2bl A G 13: 21,715,894 Y84H probably damaging Het
Jdp2 T C 12: 85,608,246 S28P probably benign Het
Kif26b T C 1: 178,870,675 F577S probably damaging Het
Kl G A 5: 150,980,665 G294D probably damaging Het
Lgsn T A 1: 31,203,960 D374E probably damaging Het
Lman1 T C 18: 65,991,610 I353V probably damaging Het
Lmna T C 3: 88,484,963 H374R probably benign Het
Lrrc57 A G 2: 120,608,805 S31P probably benign Het
Lum T A 10: 97,568,685 N147K probably damaging Het
Olfr430 T C 1: 174,070,066 I256T probably benign Het
Olfr57 A G 10: 79,035,611 T272A probably benign Het
P4ha3 C A 7: 100,305,933 L332I probably damaging Het
Pelp1 A G 11: 70,395,679 I541T probably damaging Het
Rhbdl3 T C 11: 80,353,442 L325P probably damaging Het
Robo2 T C 16: 74,352,856 D28G probably damaging Het
Rpa1 A G 11: 75,307,285 Y470H probably damaging Het
Rtn3 T C 19: 7,457,280 N430S probably benign Het
Scg2 T A 1: 79,436,821 I62L probably benign Het
Scn5a T A 9: 119,562,441 K62* probably null Het
Sec23ip T C 7: 128,762,405 V469A probably benign Het
Shank1 A G 7: 44,342,120 T663A unknown Het
Stab2 G T 10: 86,901,703 probably null Het
Tmcc3 T C 10: 94,582,285 L305P probably damaging Het
Tmem145 A G 7: 25,314,835 N458S probably damaging Het
Tpr G A 1: 150,426,987 R1412Q probably damaging Het
Wdr1 A T 5: 38,545,715 F173I possibly damaging Het
Wdr17 C T 8: 54,651,345 V898I probably benign Het
Wdr64 A T 1: 175,720,333 L145F probably benign Het
Wnt10b A G 15: 98,776,945 probably benign Het
Zfyve26 A T 12: 79,252,183 probably null Het
Other mutations in Pja2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Pja2 APN 17 64283531 missense probably damaging 1.00
IGL00945:Pja2 APN 17 64309396 missense probably benign 0.00
IGL01831:Pja2 APN 17 64309407 missense probably benign 0.02
IGL01977:Pja2 APN 17 64297826 missense probably benign 0.02
IGL02812:Pja2 APN 17 64297794 missense probably damaging 1.00
H8441:Pja2 UTSW 17 64311197 missense probably damaging 1.00
R0062:Pja2 UTSW 17 64308971 missense probably damaging 1.00
R0062:Pja2 UTSW 17 64308971 missense probably damaging 1.00
R0411:Pja2 UTSW 17 64287521 splice site probably benign
R1240:Pja2 UTSW 17 64309618 missense probably benign 0.00
R1528:Pja2 UTSW 17 64309222 missense possibly damaging 0.75
R1996:Pja2 UTSW 17 64287644 critical splice acceptor site probably null
R2111:Pja2 UTSW 17 64290036 missense probably damaging 1.00
R2162:Pja2 UTSW 17 64309402 missense probably benign 0.00
R2201:Pja2 UTSW 17 64311167 splice site probably benign
R2276:Pja2 UTSW 17 64292870 missense probably damaging 1.00
R2278:Pja2 UTSW 17 64292870 missense probably damaging 1.00
R3831:Pja2 UTSW 17 64309402 missense probably benign 0.00
R3833:Pja2 UTSW 17 64309402 missense probably benign 0.00
R4598:Pja2 UTSW 17 64313030 start codon destroyed probably null 0.69
R4801:Pja2 UTSW 17 64292862 missense probably damaging 1.00
R4802:Pja2 UTSW 17 64292862 missense probably damaging 1.00
R4983:Pja2 UTSW 17 64309058 missense probably benign 0.00
R5634:Pja2 UTSW 17 64292867 missense probably damaging 1.00
R5862:Pja2 UTSW 17 64297826 missense probably benign 0.02
R5905:Pja2 UTSW 17 64309090 missense probably benign 0.26
R6028:Pja2 UTSW 17 64309090 missense probably benign 0.26
R6382:Pja2 UTSW 17 64309615 missense probably benign 0.07
R6650:Pja2 UTSW 17 64292941 missense probably damaging 1.00
R6725:Pja2 UTSW 17 64289967 missense probably damaging 1.00
R6976:Pja2 UTSW 17 64308959 missense probably damaging 1.00
R7250:Pja2 UTSW 17 64309456 missense probably benign 0.01
R7389:Pja2 UTSW 17 64297727 missense probably damaging 1.00
R7477:Pja2 UTSW 17 64309645 missense possibly damaging 0.87
R7549:Pja2 UTSW 17 64309415 missense probably damaging 0.98
R8405:Pja2 UTSW 17 64309510 missense possibly damaging 0.87
R8458:Pja2 UTSW 17 64292848 missense probably damaging 1.00
Z1176:Pja2 UTSW 17 64292869 missense probably damaging 1.00
Posted On2013-10-07