Incidental Mutation 'R2391:Gm2888'
ID 247772
Institutional Source Beutler Lab
Gene Symbol Gm2888
Ensembl Gene ENSMUSG00000090487
Gene Name predicted gene 2888
Synonyms
MMRRC Submission 040359-MU
Accession Numbers
Essential gene? Not available question?
Stock # R2391 (G1)
Quality Score 138
Status Not validated
Chromosome 14
Chromosomal Location 19432106-19439855 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3037656 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 216 (D216V)
Ref Sequence ENSEMBL: ENSMUSP00000132602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170521] [ENSMUST00000178577]
AlphaFold K7N746
Predicted Effect possibly damaging
Transcript: ENSMUST00000170521
AA Change: D216V

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132602
Gene: ENSMUSG00000090487
AA Change: D216V

DomainStartEndE-ValueType
Pfam:Takusan 48 128 3e-22 PFAM
transmembrane domain 240 262 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178577
SMART Domains Protein: ENSMUSP00000137316
Gene: ENSMUSG00000090487

DomainStartEndE-ValueType
Pfam:Takusan 46 129 5.7e-32 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik T A 7: 115,703,461 (GRCm39) D24E probably damaging Het
Abca4 A G 3: 121,952,071 (GRCm39) H689R probably benign Het
Acss3 T G 10: 106,959,348 (GRCm39) T33P probably benign Het
BC005537 T A 13: 24,993,898 (GRCm39) Y124* probably null Het
Capn2 T C 1: 182,306,174 (GRCm39) D524G probably benign Het
Catsperb A G 12: 101,590,965 (GRCm39) Y1011C probably damaging Het
Cdk18 G T 1: 132,043,212 (GRCm39) Q438K probably benign Het
Cimap1d A T 10: 79,481,484 (GRCm39) V15E probably benign Het
Ckap5 A G 2: 91,416,214 (GRCm39) M1047V possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dmbt1 T A 7: 130,708,198 (GRCm39) I1306N probably damaging Het
Emp2 A T 16: 10,102,452 (GRCm39) I120N probably damaging Het
Naa16 T A 14: 79,607,489 (GRCm39) H287L probably benign Het
Olfm5 A G 7: 103,810,041 (GRCm39) S107P probably benign Het
Or10q3 G T 19: 11,848,180 (GRCm39) Y133* probably null Het
Or51e2 C A 7: 102,391,581 (GRCm39) V210F possibly damaging Het
Or6k8-ps1 T C 1: 173,979,664 (GRCm39) V194A probably benign Het
Ptpn2 A T 18: 67,808,959 (GRCm39) probably null Het
Serpinb8 A G 1: 107,534,799 (GRCm39) D290G probably damaging Het
Sfmbt2 T C 2: 10,450,504 (GRCm39) Y260H possibly damaging Het
Slc6a20a A T 9: 123,493,686 (GRCm39) V65E probably damaging Het
Spon1 C T 7: 113,486,080 (GRCm39) T210M probably damaging Het
Sugp1 T C 8: 70,512,061 (GRCm39) probably null Het
Tas2r143 C A 6: 42,377,810 (GRCm39) H213Q probably damaging Het
Terf1 C A 1: 15,875,963 (GRCm39) S21* probably null Het
Trim12a T C 7: 103,956,138 (GRCm39) E134G probably damaging Het
Trip12 TATACATACATACATACATACATACATACATAC TATACATACATACATACATACATACATACATACATAC 1: 84,792,511 (GRCm39) probably null Het
Tssk5 T C 15: 76,258,751 (GRCm39) Y45C probably benign Het
Usp29 T A 7: 6,966,770 (GRCm39) probably null Het
Wdfy4 A T 14: 32,884,764 (GRCm39) M46K possibly damaging Het
Wdr90 G A 17: 26,070,429 (GRCm39) P1104L probably damaging Het
Znhit6 T C 3: 145,300,413 (GRCm39) S230P probably damaging Het
Other mutations in Gm2888
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01474:Gm2888 APN 14 3,032,041 (GRCm38) missense probably damaging 1.00
R6553:Gm2888 UTSW 14 3,037,722 (GRCm38) missense possibly damaging 0.95
R8118:Gm2888 UTSW 14 3,037,628 (GRCm38) missense probably benign 0.08
R9135:Gm2888 UTSW 14 3,032,106 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTATGACACTTGGGATGCACG -3'
(R):5'- CAGCTCTTGATGTGTCTCAGC -3'

Sequencing Primer
(F):5'- GATGCACGTTATGATCTCAGC -3'
(R):5'- AAATGTGCACTCTTCCTGGG -3'
Posted On 2014-11-11