Incidental Mutation 'R4952:Slc15a4'
ID 382051
Institutional Source Beutler Lab
Gene Symbol Slc15a4
Ensembl Gene ENSMUSG00000029416
Gene Name solute carrier family 15, member 4
Synonyms C130069N12Rik, PTR4, PHT1
MMRRC Submission 042549-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R4952 (G1)
Quality Score 119
Status Validated
Chromosome 5
Chromosomal Location 127672728-127709961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127680901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 72 (F72L)
Ref Sequence ENSEMBL: ENSMUSP00000116529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031367] [ENSMUST00000152727] [ENSMUST00000153832] [ENSMUST00000155321]
AlphaFold Q91W98
Predicted Effect probably damaging
Transcript: ENSMUST00000031367
AA Change: F373L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031367
Gene: ENSMUSG00000029416
AA Change: F373L

DomainStartEndE-ValueType
low complexity region 10 29 N/A INTRINSIC
Pfam:MFS_1 33 505 7.8e-13 PFAM
Pfam:PTR2 96 519 3.6e-127 PFAM
transmembrane domain 533 555 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124569
SMART Domains Protein: ENSMUSP00000121595
Gene: ENSMUSG00000029416

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:PTR2 49 242 8.1e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144603
SMART Domains Protein: ENSMUSP00000116420
Gene: ENSMUSG00000029416

DomainStartEndE-ValueType
Pfam:PTR2 7 127 2.2e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000152727
AA Change: F72L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116529
Gene: ENSMUSG00000029416
AA Change: F72L

DomainStartEndE-ValueType
Pfam:PTR2 1 81 3.9e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153832
SMART Domains Protein: ENSMUSP00000123116
Gene: ENSMUSG00000029416

DomainStartEndE-ValueType
low complexity region 10 29 N/A INTRINSIC
low complexity region 32 43 N/A INTRINSIC
transmembrane domain 67 89 N/A INTRINSIC
Pfam:PTR2 96 292 5e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155321
SMART Domains Protein: ENSMUSP00000117258
Gene: ENSMUSG00000029416

DomainStartEndE-ValueType
Pfam:PTR2 7 105 1e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199810
Predicted Effect unknown
Transcript: ENSMUST00000198486
AA Change: F82L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200212
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198727
Meta Mutation Damage Score 0.5032 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 99% (93/94)
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced mutation display abrogation of both Toll-like receptor (TLR)-induced type I IFN and proinflammatory cytokine production by plasmacytoid dendritic cells. Conventional dendritic cells respond normally to TLR ligands. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,887,063 (GRCm39) probably null Het
4933421I07Rik T C 7: 42,097,083 (GRCm39) Y76C possibly damaging Het
Adcy4 C T 14: 56,016,486 (GRCm39) D322N probably damaging Het
Ak9 A G 10: 41,296,585 (GRCm39) M1444V probably benign Het
Amfr A G 8: 94,699,787 (GRCm39) probably benign Het
Ankef1 A G 2: 136,392,449 (GRCm39) E546G probably damaging Het
Ankrd24 A G 10: 81,482,982 (GRCm39) M977V probably benign Het
Ap3m1 A T 14: 21,090,134 (GRCm39) S5T probably benign Het
Aqr C A 2: 113,940,418 (GRCm39) D1243Y probably damaging Het
Arhgef2 T C 3: 88,549,769 (GRCm39) L591P probably damaging Het
Arid4a C A 12: 71,070,299 (GRCm39) T70K possibly damaging Het
Asphd1 C T 7: 126,547,857 (GRCm39) A149T probably benign Het
Avpr1a T A 10: 122,285,659 (GRCm39) M317K probably damaging Het
Birc2 T C 9: 7,836,741 (GRCm39) I109V probably damaging Het
Catsperd A G 17: 56,939,303 (GRCm39) Y44C probably damaging Het
Crygb T G 1: 65,121,268 (GRCm39) S20R probably benign Het
Cyp3a25 T C 5: 145,928,334 (GRCm39) N237S probably benign Het
Dkk3 C T 7: 111,717,558 (GRCm39) A304T probably benign Het
Dst T C 1: 34,310,503 (GRCm39) L4101S probably damaging Het
Dysf A G 6: 84,126,968 (GRCm39) N1407S possibly damaging Het
Epb41 A G 4: 131,727,581 (GRCm39) V265A probably damaging Het
Faim2 C T 15: 99,419,109 (GRCm39) E75K possibly damaging Het
Fam237b T A 5: 5,625,387 (GRCm39) F28I probably benign Het
Fbn1 T A 2: 125,159,454 (GRCm39) D2208V probably damaging Het
Fbxo28 A G 1: 182,153,950 (GRCm39) S129P probably damaging Het
Fbxw14 T A 9: 109,105,269 (GRCm39) I299L probably benign Het
Fras1 C T 5: 96,795,357 (GRCm39) A1050V probably benign Het
Fyb1 C A 15: 6,668,292 (GRCm39) T495K probably damaging Het
Ghdc A T 11: 100,659,977 (GRCm39) W257R probably damaging Het
Gm10719 T C 9: 3,018,962 (GRCm39) L69S probably benign Het
Gm12250 G T 11: 58,079,210 (GRCm39) noncoding transcript Het
Gm4846 A T 1: 166,311,503 (GRCm39) F452Y probably damaging Het
Gpbp1 T C 13: 111,577,284 (GRCm39) D202G probably damaging Het
Gpd2 C A 2: 57,197,025 (GRCm39) Y193* probably null Het
Grhl2 G T 15: 37,287,493 (GRCm39) R229L probably benign Het
Gtf2a1 A G 12: 91,542,523 (GRCm39) F59L possibly damaging Het
Heatr1 G T 13: 12,425,480 (GRCm39) W640L probably benign Het
Kalrn A T 16: 34,177,785 (GRCm39) probably null Het
Keap1 T C 9: 21,148,582 (GRCm39) T142A probably damaging Het
Kpna2 G A 11: 106,882,061 (GRCm39) T255M probably damaging Het
Kpna3 A G 14: 61,607,838 (GRCm39) C456R probably damaging Het
Lama1 G A 17: 68,074,561 (GRCm39) probably null Het
Lrrc37 T C 11: 103,505,033 (GRCm39) T2312A possibly damaging Het
Mag C A 7: 30,608,581 (GRCm39) E178* probably null Het
Map3k13 A G 16: 21,729,769 (GRCm39) I467V probably benign Het
Mga A G 2: 119,733,782 (GRCm39) E210G probably damaging Het
Msi2 C T 11: 88,257,610 (GRCm39) probably null Het
Naa16 A T 14: 79,582,525 (GRCm39) D521E probably damaging Het
Nav2 C T 7: 48,954,288 (GRCm39) probably benign Het
Nek10 T A 14: 14,860,986 (GRCm38) L513M possibly damaging Het
Nek5 T C 8: 22,586,815 (GRCm39) K332R probably benign Het
Nek5 T A 8: 22,569,104 (GRCm39) I573L probably benign Het
Ntn1 CCTTCTTCT CCTTCT 11: 68,103,852 (GRCm39) probably benign Het
Odad1 A C 7: 45,591,615 (GRCm39) E293A probably damaging Het
Or2w1 G A 13: 21,317,514 (GRCm39) V190I probably benign Het
Or5v1b A T 17: 37,841,641 (GRCm39) T258S possibly damaging Het
Or6c204 T A 10: 129,022,466 (GRCm39) T275S probably benign Het
Or8b12b T A 9: 37,684,360 (GRCm39) M135K probably damaging Het
Orai1 T G 5: 123,167,313 (GRCm39) V162G probably damaging Het
P2rx6 T C 16: 17,385,308 (GRCm39) S134P probably damaging Het
Pappa2 G A 1: 158,684,706 (GRCm39) T811I probably null Het
Pcdhga10 T C 18: 37,880,213 (GRCm39) probably benign Het
Pex16 C T 2: 92,209,405 (GRCm39) R241* probably null Het
Plxnb1 T C 9: 108,943,904 (GRCm39) F1969L probably damaging Het
Postn A G 3: 54,297,736 (GRCm39) probably benign Het
Prdm15 A T 16: 97,607,277 (GRCm39) I752N probably damaging Het
Rasgef1c A T 11: 49,870,339 (GRCm39) K468M probably damaging Het
Rbfox1 A G 16: 7,094,952 (GRCm39) S111G probably benign Het
Rbm28 T C 6: 29,138,597 (GRCm39) D405G probably damaging Het
Rell1 A G 5: 64,097,010 (GRCm39) probably benign Het
Rfx3 A G 19: 27,808,072 (GRCm39) S224P probably damaging Het
Scarb2 A T 5: 92,602,636 (GRCm39) I260K probably damaging Het
Septin4 A G 11: 87,458,598 (GRCm39) N324S probably benign Het
Spg7 C A 8: 123,816,910 (GRCm39) R534S probably damaging Het
Stoml2 T C 4: 43,029,589 (GRCm39) T164A probably benign Het
Syt11 C T 3: 88,669,590 (GRCm39) G101S possibly damaging Het
Traj12 A G 14: 54,444,013 (GRCm39) probably benign Het
Traj7 A T 14: 54,448,981 (GRCm39) probably benign Het
Tysnd1 C T 10: 61,537,855 (GRCm39) T175I possibly damaging Het
Usp48 T G 4: 137,334,004 (GRCm39) Y139* probably null Het
Vmn2r72 A G 7: 85,400,317 (GRCm39) L244P probably benign Het
Wasf1 C A 10: 40,812,186 (GRCm39) P325Q unknown Het
Zc3h18 T A 8: 123,137,639 (GRCm39) probably benign Het
Zfp712 A G 13: 67,188,905 (GRCm39) S541P possibly damaging Het
Other mutations in Slc15a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Slc15a4 APN 5 127,679,024 (GRCm39) missense probably benign 0.13
IGL01543:Slc15a4 APN 5 127,680,830 (GRCm39) missense probably benign 0.12
IGL01805:Slc15a4 APN 5 127,685,900 (GRCm39) missense possibly damaging 0.91
IGL02958:Slc15a4 APN 5 127,681,729 (GRCm39) missense possibly damaging 0.93
IGL03367:Slc15a4 APN 5 127,679,005 (GRCm39) missense probably damaging 1.00
bondage UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
feeble UTSW 5 127,685,834 (GRCm39) unclassified probably benign
R0018:Slc15a4 UTSW 5 127,679,074 (GRCm39) missense probably damaging 1.00
R0018:Slc15a4 UTSW 5 127,679,074 (GRCm39) missense probably damaging 1.00
R0838:Slc15a4 UTSW 5 127,694,067 (GRCm39) missense possibly damaging 0.53
R1544:Slc15a4 UTSW 5 127,680,832 (GRCm39) missense probably benign 0.01
R1662:Slc15a4 UTSW 5 127,686,043 (GRCm39) missense probably damaging 1.00
R2504:Slc15a4 UTSW 5 127,694,303 (GRCm39) missense possibly damaging 0.92
R2843:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R2845:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R2846:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R2900:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R2971:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R3018:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R3020:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R3021:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R3027:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R3053:Slc15a4 UTSW 5 127,673,746 (GRCm39) missense possibly damaging 0.83
R3155:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R3432:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R4356:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R4357:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R4359:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R4448:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R4449:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R4450:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R4514:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R4544:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R4546:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R5278:Slc15a4 UTSW 5 127,694,033 (GRCm39) missense probably damaging 0.99
R6393:Slc15a4 UTSW 5 127,693,950 (GRCm39) missense probably benign 0.13
R6527:Slc15a4 UTSW 5 127,673,773 (GRCm39) missense probably damaging 1.00
R7409:Slc15a4 UTSW 5 127,681,742 (GRCm39) missense probably benign 0.04
R8223:Slc15a4 UTSW 5 127,686,080 (GRCm39) missense possibly damaging 0.65
R8708:Slc15a4 UTSW 5 127,673,715 (GRCm39) missense probably benign 0.00
R8848:Slc15a4 UTSW 5 127,679,021 (GRCm39) missense probably benign 0.22
R9301:Slc15a4 UTSW 5 127,673,812 (GRCm39) missense probably benign 0.11
R9396:Slc15a4 UTSW 5 127,694,463 (GRCm39) intron probably benign
R9695:Slc15a4 UTSW 5 127,694,400 (GRCm39) missense possibly damaging 0.78
Z1177:Slc15a4 UTSW 5 127,677,588 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTAGCTTCTGCATGCTGC -3'
(R):5'- CTGCTGAGATTGGATTGGCC -3'

Sequencing Primer
(F):5'- TGCAGAAGCCACTCTGGGAG -3'
(R):5'- CAGTGCCACTAAACACTAGTACTGTC -3'
Posted On 2016-04-27