Incidental Mutation 'R9549:Plekhb2'
ID 720284
Institutional Source Beutler Lab
Gene Symbol Plekhb2
Ensembl Gene ENSMUSG00000026123
Gene Name pleckstrin homology domain containing, family B (evectins) member 2
Synonyms Phdc, evt-2, 2310009M15Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R9549 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 34889057-34918661 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34902552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 64 (D64G)
Ref Sequence ENSEMBL: ENSMUSP00000027297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027297] [ENSMUST00000152654] [ENSMUST00000156687]
AlphaFold Q9QZC7
PDB Structure Solution structure of the PH domain of Evectin-2 from mouse [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000027297
AA Change: D64G

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000027297
Gene: ENSMUSG00000026123
AA Change: D64G

DomainStartEndE-ValueType
PH 3 111 3.65e-7 SMART
low complexity region 126 140 N/A INTRINSIC
low complexity region 143 155 N/A INTRINSIC
low complexity region 164 183 N/A INTRINSIC
low complexity region 200 215 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152654
AA Change: D64G

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000116777
Gene: ENSMUSG00000026123
AA Change: D64G

DomainStartEndE-ValueType
Pfam:PH 3 63 1.2e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000156687
AA Change: D64G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140475
Gene: ENSMUSG00000026123
AA Change: D64G

DomainStartEndE-ValueType
PH 3 111 3.65e-7 SMART
low complexity region 126 140 N/A INTRINSIC
low complexity region 143 155 N/A INTRINSIC
low complexity region 165 176 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,742,076 (GRCm39) Y491C probably damaging Het
B3gnt6 G T 7: 97,843,656 (GRCm39) D101E possibly damaging Het
Bnip5 A T 17: 29,124,647 (GRCm39) H9Q Het
Ccnt1 A G 15: 98,441,574 (GRCm39) S565P probably damaging Het
Crebbp T C 16: 3,903,111 (GRCm39) M2043V probably benign Het
Ehbp1 T G 11: 22,012,788 (GRCm39) D941A probably benign Het
Fam171b G T 2: 83,643,199 (GRCm39) R36L probably damaging Het
Fam83c T A 2: 155,676,672 (GRCm39) I33L Het
Fbxo15 T C 18: 84,980,805 (GRCm39) V260A possibly damaging Het
Fez1 G A 9: 36,780,211 (GRCm39) G336E possibly damaging Het
Gm7579 CTGTGTG CTGTG 7: 141,765,736 (GRCm39) probably null Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Isoc2a A G 7: 4,895,058 (GRCm39) E162G probably damaging Het
Lrig2 A G 3: 104,398,191 (GRCm39) S313P probably damaging Het
Lrrd1 T A 5: 3,901,473 (GRCm39) S593T probably benign Het
Lrrn1 A G 6: 107,545,978 (GRCm39) Y592C probably damaging Het
Map3k9 T C 12: 81,771,255 (GRCm39) T778A probably benign Het
Mapk14 T A 17: 28,934,415 (GRCm39) V102E probably damaging Het
Maz A G 7: 126,625,578 (GRCm39) F5S unknown Het
Meioc C T 11: 102,556,550 (GRCm39) probably benign Het
Mlec A G 5: 115,288,271 (GRCm39) V195A probably benign Het
Mlh3 T C 12: 85,313,249 (GRCm39) D979G probably benign Het
Mto1 G A 9: 78,368,961 (GRCm39) S541N probably benign Het
Mug1 G A 6: 121,858,762 (GRCm39) G1160E probably damaging Het
Nfkb2 T A 19: 46,298,111 (GRCm39) I496N probably damaging Het
Nr1h5 T C 3: 102,848,337 (GRCm39) D456G probably benign Het
Or5an11 T A 19: 12,246,408 (GRCm39) F271L probably benign Het
Paqr5 A T 9: 61,863,543 (GRCm39) C260S possibly damaging Het
Pip5k1b C A 19: 24,356,413 (GRCm39) C175F probably damaging Het
Pkn1 T C 8: 84,419,474 (GRCm39) E43G probably damaging Het
Pld1 G A 3: 28,125,381 (GRCm39) E432K possibly damaging Het
Plekhh3 T A 11: 101,056,015 (GRCm39) probably null Het
Prex2 A T 1: 11,256,915 (GRCm39) H1209L probably damaging Het
Rlf T C 4: 121,005,320 (GRCm39) Y1330C probably damaging Het
Rmdn2 T G 17: 79,935,339 (GRCm39) S151A Het
Sdk1 A C 5: 141,940,657 (GRCm39) D475A possibly damaging Het
Serpina1e A T 12: 103,917,243 (GRCm39) L142Q possibly damaging Het
Setbp1 T A 18: 78,902,629 (GRCm39) D346V probably benign Het
Smg1 A G 7: 117,795,254 (GRCm39) L431P unknown Het
St13 G A 15: 81,259,063 (GRCm39) A207V possibly damaging Het
Thra T C 11: 98,653,772 (GRCm39) I201T probably benign Het
Trim41 TTCCTCCTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCCTCCTCC 11: 48,707,084 (GRCm39) probably benign Het
Trpm6 C T 19: 18,853,394 (GRCm39) Q1805* probably null Het
Uxs1 A T 1: 43,810,892 (GRCm39) Y231* probably null Het
Vash1 A T 12: 86,735,870 (GRCm39) D252V probably damaging Het
Vmn1r61 A C 7: 5,614,185 (GRCm39) V43G probably damaging Het
Vmn2r1 A G 3: 63,997,493 (GRCm39) H383R probably benign Het
Vmn2r105 T C 17: 20,448,023 (GRCm39) N267S probably benign Het
Zfp445 T C 9: 122,685,844 (GRCm39) E232G probably damaging Het
Other mutations in Plekhb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01665:Plekhb2 APN 1 34,908,411 (GRCm39) missense probably damaging 0.98
IGL02530:Plekhb2 APN 1 34,916,022 (GRCm39) missense possibly damaging 0.83
IGL02721:Plekhb2 APN 1 34,908,445 (GRCm39) missense probably benign 0.00
IGL02942:Plekhb2 APN 1 34,916,073 (GRCm39) missense probably damaging 0.96
R0022:Plekhb2 UTSW 1 34,905,320 (GRCm39) splice site probably benign
R0379:Plekhb2 UTSW 1 34,902,195 (GRCm39) missense probably damaging 1.00
R4151:Plekhb2 UTSW 1 34,903,564 (GRCm39) missense probably benign 0.00
R6449:Plekhb2 UTSW 1 34,903,564 (GRCm39) missense probably benign
R6927:Plekhb2 UTSW 1 34,915,982 (GRCm39) splice site probably null
R9015:Plekhb2 UTSW 1 34,916,046 (GRCm39) missense probably benign 0.00
Z1177:Plekhb2 UTSW 1 34,902,237 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- CTTCCCCACACTGGAGTTAG -3'
(R):5'- AAGAAAAGCCCCTGTTGCG -3'

Sequencing Primer
(F):5'- ACACTGGAGTTAGGTCCCG -3'
(R):5'- GTTGCGCTTCTCCCAGAG -3'
Posted On 2022-07-18