Incidental Mutation 'R0331:Gdpd4'
ID 26053
Institutional Source Beutler Lab
Gene Symbol Gdpd4
Ensembl Gene ENSMUSG00000035582
Gene Name glycerophosphodiester phosphodiesterase domain containing 4
Synonyms
MMRRC Submission 038540-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R0331 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 97569162-97698870 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97622215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 231 (N231K)
Ref Sequence ENSEMBL: ENSMUSP00000131960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041860] [ENSMUST00000170049]
AlphaFold Q3TT99
Predicted Effect probably benign
Transcript: ENSMUST00000041860
AA Change: N231K

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000036772
Gene: ENSMUSG00000035582
AA Change: N231K

DomainStartEndE-ValueType
transmembrane domain 65 84 N/A INTRINSIC
transmembrane domain 104 135 N/A INTRINSIC
transmembrane domain 148 168 N/A INTRINSIC
transmembrane domain 183 205 N/A INTRINSIC
transmembrane domain 241 263 N/A INTRINSIC
Pfam:GDPD 281 440 1.4e-19 PFAM
transmembrane domain 543 565 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170049
AA Change: N231K

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000131960
Gene: ENSMUSG00000035582
AA Change: N231K

DomainStartEndE-ValueType
transmembrane domain 65 84 N/A INTRINSIC
transmembrane domain 104 135 N/A INTRINSIC
transmembrane domain 148 168 N/A INTRINSIC
transmembrane domain 183 205 N/A INTRINSIC
transmembrane domain 241 263 N/A INTRINSIC
Pfam:GDPD 281 439 3.4e-21 PFAM
transmembrane domain 543 565 N/A INTRINSIC
Meta Mutation Damage Score 0.1718 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.8%
  • 20x: 91.7%
Validation Efficiency 100% (81/81)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T A 8: 79,956,021 (GRCm39) T79S probably benign Het
Abtb1 T C 6: 88,817,684 (GRCm39) probably benign Het
Acot12 G A 13: 91,908,183 (GRCm39) probably null Het
Adamts4 T A 1: 171,078,541 (GRCm39) S54T probably benign Het
Adgrl4 T C 3: 151,203,577 (GRCm39) S96P probably benign Het
Aip G T 19: 4,168,247 (GRCm39) T40K probably damaging Het
Anapc4 A G 5: 53,012,984 (GRCm39) probably benign Het
Asz1 A G 6: 18,103,618 (GRCm39) probably benign Het
Atf7ip A G 6: 136,538,161 (GRCm39) T465A possibly damaging Het
Atp11a C T 8: 12,866,953 (GRCm39) Q127* probably null Het
Axin1 A G 17: 26,362,081 (GRCm39) R142G probably damaging Het
Bcat1 T A 6: 144,993,040 (GRCm39) E86V probably benign Het
Brd4 G A 17: 32,421,489 (GRCm39) P749L probably benign Het
C1ra G A 6: 124,496,394 (GRCm39) probably null Het
Capza2 A T 6: 17,665,102 (GRCm39) N237I probably benign Het
Cd2ap A T 17: 43,116,192 (GRCm39) V556E probably benign Het
Cfap65 G A 1: 74,968,460 (GRCm39) P124L probably damaging Het
Cfap65 G T 1: 74,968,461 (GRCm39) P124T probably damaging Het
Cftr T C 6: 18,235,225 (GRCm39) V488A possibly damaging Het
Ckmt1 A T 2: 121,193,337 (GRCm39) probably null Het
Cmya5 T G 13: 93,280,911 (GRCm39) E35A possibly damaging Het
Col7a1 A G 9: 108,796,570 (GRCm39) probably benign Het
Crmp1 C T 5: 37,422,657 (GRCm39) L155F possibly damaging Het
Cyp2d10 T A 15: 82,291,227 (GRCm39) T33S probably benign Het
Dhdh T C 7: 45,137,544 (GRCm39) K48E probably benign Het
Dlst T C 12: 85,165,586 (GRCm39) V103A probably damaging Het
Dohh C T 10: 81,223,646 (GRCm39) T233I probably benign Het
Dvl2 C A 11: 69,897,043 (GRCm39) probably benign Het
Eipr1 C T 12: 28,914,703 (GRCm39) Q286* probably null Het
Enpp6 C A 8: 47,535,484 (GRCm39) T343K probably damaging Het
Fbxw11 T A 11: 32,661,895 (GRCm39) F112I probably damaging Het
Gm6370 A T 5: 146,430,576 (GRCm39) T254S probably benign Het
Hapln4 G T 8: 70,537,159 (GRCm39) Q31H probably damaging Het
Hic1 T A 11: 75,056,316 (GRCm39) T858S possibly damaging Het
Isg20l2 T C 3: 87,839,092 (GRCm39) L101P probably damaging Het
Itga10 T C 3: 96,559,799 (GRCm39) Y485H probably damaging Het
Itgal T A 7: 126,905,853 (GRCm39) probably null Het
Itln1 T C 1: 171,359,117 (GRCm39) N62S probably damaging Het
Kdm4b T C 17: 56,693,289 (GRCm39) probably benign Het
Lct T C 1: 128,226,479 (GRCm39) probably benign Het
Lman2 A T 13: 55,500,829 (GRCm39) H123Q probably damaging Het
Lztr1 T A 16: 17,342,101 (GRCm39) probably benign Het
Myo3b G T 2: 69,925,605 (GRCm39) G24V probably damaging Het
Nacad T A 11: 6,549,441 (GRCm39) Q1250L possibly damaging Het
Ncor2 A T 5: 125,161,981 (GRCm39) M431K unknown Het
Nek9 T A 12: 85,374,149 (GRCm39) probably benign Het
Neu1 C A 17: 35,153,146 (GRCm39) N255K possibly damaging Het
Nf2 T A 11: 4,744,914 (GRCm39) T75S probably benign Het
Nipal4 T A 11: 46,041,040 (GRCm39) D385V probably damaging Het
Olah T A 2: 3,343,511 (GRCm39) N245I probably damaging Het
Or5p54 G T 7: 107,554,077 (GRCm39) L76F probably benign Het
Pag1 T A 3: 9,767,030 (GRCm39) T90S probably benign Het
Pald1 A G 10: 61,176,708 (GRCm39) probably null Het
Parva A G 7: 112,144,005 (GRCm39) M98V probably benign Het
Paxbp1 T A 16: 90,834,255 (GRCm39) D177V possibly damaging Het
Paxip1 A G 5: 27,970,230 (GRCm39) I587T probably damaging Het
Pclo T C 5: 14,730,390 (GRCm39) probably benign Het
Pdgfra T A 5: 75,355,713 (GRCm39) D1074E probably damaging Het
Pef1 A T 4: 130,021,241 (GRCm39) D265V probably damaging Het
Plekhh2 G A 17: 84,893,794 (GRCm39) E870K possibly damaging Het
Plscr4 G A 9: 92,364,695 (GRCm39) G40D probably damaging Het
Psg18 A G 7: 18,087,233 (GRCm39) Y142H probably benign Het
Ptchd3 A T 11: 121,733,017 (GRCm39) M636L probably benign Het
Rab2a A G 4: 8,572,559 (GRCm39) D51G probably benign Het
Rnf139 T A 15: 58,771,755 (GRCm39) D593E probably benign Het
Septin7 A G 9: 25,217,552 (GRCm39) N422S probably benign Het
Shprh T C 10: 11,069,914 (GRCm39) probably benign Het
Slc7a6os A G 8: 106,937,199 (GRCm39) I87T probably damaging Het
Slc7a7 A G 14: 54,615,381 (GRCm39) probably benign Het
Spc24 G T 9: 21,668,609 (GRCm39) N129K possibly damaging Het
Strip2 C T 6: 29,926,559 (GRCm39) T148I probably benign Het
Tmem150c A C 5: 100,234,132 (GRCm39) probably null Het
Trav13-5 A G 14: 54,033,205 (GRCm39) N38S probably benign Het
Ttn G T 2: 76,641,364 (GRCm39) Y11801* probably null Het
Usp37 A T 1: 74,493,223 (GRCm39) L688* probably null Het
Usp38 T C 8: 81,722,469 (GRCm39) I351V probably benign Het
Vav2 T A 2: 27,186,187 (GRCm39) M223L probably benign Het
Wdr36 A G 18: 32,985,968 (GRCm39) I557M possibly damaging Het
Wwc2 A T 8: 48,333,239 (GRCm39) M259K probably benign Het
Znfx1 G A 2: 166,888,898 (GRCm39) S770L probably benign Het
Other mutations in Gdpd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Gdpd4 APN 7 97,653,478 (GRCm39) missense probably damaging 1.00
IGL01292:Gdpd4 APN 7 97,664,161 (GRCm39) splice site probably benign
IGL01317:Gdpd4 APN 7 97,647,465 (GRCm39) missense possibly damaging 0.74
IGL02678:Gdpd4 APN 7 97,623,584 (GRCm39) splice site probably benign
IGL02822:Gdpd4 APN 7 97,621,131 (GRCm39) missense possibly damaging 0.82
IGL02987:Gdpd4 APN 7 97,610,758 (GRCm39) splice site probably benign
R0022:Gdpd4 UTSW 7 97,632,082 (GRCm39) missense probably damaging 1.00
R0882:Gdpd4 UTSW 7 97,615,505 (GRCm39) missense probably damaging 1.00
R1425:Gdpd4 UTSW 7 97,623,219 (GRCm39) missense probably benign 0.03
R1469:Gdpd4 UTSW 7 97,623,673 (GRCm39) splice site probably null
R1469:Gdpd4 UTSW 7 97,623,673 (GRCm39) splice site probably null
R1870:Gdpd4 UTSW 7 97,622,162 (GRCm39) missense probably benign 0.00
R4747:Gdpd4 UTSW 7 97,610,840 (GRCm39) missense possibly damaging 0.80
R5017:Gdpd4 UTSW 7 97,653,482 (GRCm39) nonsense probably null
R5208:Gdpd4 UTSW 7 97,664,118 (GRCm39) missense probably benign 0.11
R5290:Gdpd4 UTSW 7 97,615,543 (GRCm39) missense possibly damaging 0.94
R5398:Gdpd4 UTSW 7 97,621,185 (GRCm39) missense probably benign 0.00
R5605:Gdpd4 UTSW 7 97,655,507 (GRCm39) missense probably benign 0.41
R5715:Gdpd4 UTSW 7 97,610,804 (GRCm39) missense probably benign 0.00
R5990:Gdpd4 UTSW 7 97,690,137 (GRCm39) missense probably benign 0.00
R6269:Gdpd4 UTSW 7 97,623,669 (GRCm39) missense probably damaging 1.00
R6314:Gdpd4 UTSW 7 97,623,160 (GRCm39) missense probably damaging 0.98
R6817:Gdpd4 UTSW 7 97,607,037 (GRCm39) missense probably benign 0.00
R6884:Gdpd4 UTSW 7 97,621,382 (GRCm39) missense probably damaging 1.00
R7054:Gdpd4 UTSW 7 97,623,136 (GRCm39) missense probably damaging 0.99
R7575:Gdpd4 UTSW 7 97,647,448 (GRCm39) missense probably benign 0.00
R7582:Gdpd4 UTSW 7 97,607,012 (GRCm39) critical splice acceptor site probably null
R7694:Gdpd4 UTSW 7 97,621,146 (GRCm39) missense probably benign 0.24
R7867:Gdpd4 UTSW 7 97,623,185 (GRCm39) nonsense probably null
R8145:Gdpd4 UTSW 7 97,690,077 (GRCm39) missense probably benign 0.00
R8169:Gdpd4 UTSW 7 97,621,335 (GRCm39) missense probably benign 0.03
R8692:Gdpd4 UTSW 7 97,690,140 (GRCm39) missense probably benign 0.00
R9211:Gdpd4 UTSW 7 97,615,466 (GRCm39) missense possibly damaging 0.74
R9286:Gdpd4 UTSW 7 97,647,639 (GRCm39) missense probably damaging 1.00
R9417:Gdpd4 UTSW 7 97,607,074 (GRCm39) missense probably benign 0.00
R9529:Gdpd4 UTSW 7 97,610,793 (GRCm39) missense possibly damaging 0.94
R9563:Gdpd4 UTSW 7 97,649,369 (GRCm39) missense probably damaging 1.00
Z1088:Gdpd4 UTSW 7 97,615,516 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGACACTTGCTTCCTAGCTTGTGG -3'
(R):5'- TCTGTCTGGCAGCTAACACTGCTC -3'

Sequencing Primer
(F):5'- TGGTGCTGgtgtgtgtg -3'
(R):5'- CTCACAGAGGTGGTGCAAC -3'
Posted On 2013-04-16