Incidental Mutation 'R4479:Lrrc28'
ID 331396
Institutional Source Beutler Lab
Gene Symbol Lrrc28
Ensembl Gene ENSMUSG00000030556
Gene Name leucine rich repeat containing 28
Synonyms 2310058O11Rik, 2210012C09Rik, 1300004K21Rik
MMRRC Submission 041736-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R4479 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 67163158-67295016 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 67181362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000052177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053950] [ENSMUST00000187953] [ENSMUST00000191035]
AlphaFold Q3TX51
Predicted Effect probably null
Transcript: ENSMUST00000053950
SMART Domains Protein: ENSMUSP00000052177
Gene: ENSMUSG00000030556

DomainStartEndE-ValueType
LRR 40 63 1.33e-1 SMART
LRR 64 86 3.24e0 SMART
LRR 87 109 1.06e1 SMART
LRR_TYP 110 132 6.67e-2 SMART
LRR 133 156 6.4e0 SMART
LRR 179 202 1.64e-1 SMART
low complexity region 304 318 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185818
Predicted Effect probably benign
Transcript: ENSMUST00000187953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190770
Predicted Effect probably benign
Transcript: ENSMUST00000191035
SMART Domains Protein: ENSMUSP00000140382
Gene: ENSMUSG00000030556

DomainStartEndE-ValueType
LRR 40 63 1.33e-1 SMART
LRR 64 86 3.24e0 SMART
LRR 87 109 1.06e1 SMART
LRR 110 132 8.09e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191062
Meta Mutation Damage Score 0.9594 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 95% (36/38)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,654,663 (GRCm39) T553A possibly damaging Het
Adamts20 C T 15: 94,301,326 (GRCm39) R66H probably damaging Het
Anks1b A G 10: 89,885,754 (GRCm39) E150G probably damaging Het
Chp2 A G 7: 121,820,141 (GRCm39) D97G probably benign Het
Cnbd2 T C 2: 156,175,573 (GRCm39) probably benign Het
D130040H23Rik C A 8: 69,755,155 (GRCm39) H187N possibly damaging Het
Dusp15 A G 2: 152,786,102 (GRCm39) L135P probably damaging Het
Eif4g1 G T 16: 20,497,593 (GRCm39) probably benign Het
Erlin2 G T 8: 27,515,127 (GRCm39) V10L probably benign Het
F830104G03Rik A G 3: 56,797,634 (GRCm39) S98P unknown Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Gm3159 T C 14: 4,398,584 (GRCm38) Y92H probably damaging Het
Ighv1-22 G T 12: 114,710,283 (GRCm39) A15E possibly damaging Het
Ints4 T C 7: 97,134,178 (GRCm39) S37P probably damaging Het
Irs1 G A 1: 82,265,015 (GRCm39) T1067I probably damaging Het
Or10v1 A G 19: 11,873,922 (GRCm39) Y179C probably damaging Het
Or4a71 A G 2: 89,358,514 (GRCm39) I80T possibly damaging Het
Or5ac24 G A 16: 59,165,230 (GRCm39) T278I probably damaging Het
Psg18 C T 7: 18,084,787 (GRCm39) S103N probably benign Het
Psma3 T C 12: 71,031,555 (GRCm39) probably benign Het
Slc7a11 T C 3: 50,372,412 (GRCm39) probably benign Het
Tas2r115 T C 6: 132,714,495 (GRCm39) D152G probably damaging Het
Tti1 A T 2: 157,850,315 (GRCm39) L308Q possibly damaging Het
Unc93b1 G A 19: 3,985,236 (GRCm39) A15T probably benign Het
Usp43 G A 11: 67,747,233 (GRCm39) R820C possibly damaging Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Vps8 A T 16: 21,363,986 (GRCm39) probably benign Het
Wdr73 T C 7: 80,542,969 (GRCm39) E213G probably benign Het
Zfp286 C G 11: 62,671,030 (GRCm39) G348R probably damaging Het
Zkscan5 T C 5: 145,147,984 (GRCm39) probably benign Het
Other mutations in Lrrc28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Lrrc28 APN 7 67,278,042 (GRCm39) critical splice donor site probably null
IGL01583:Lrrc28 APN 7 67,195,223 (GRCm39) splice site probably null
IGL02033:Lrrc28 APN 7 67,209,605 (GRCm39) critical splice donor site probably null
IGL02483:Lrrc28 APN 7 67,267,731 (GRCm39) splice site probably benign
IGL02750:Lrrc28 APN 7 67,181,431 (GRCm39) missense probably damaging 0.96
BB002:Lrrc28 UTSW 7 67,268,857 (GRCm39) missense probably damaging 1.00
BB012:Lrrc28 UTSW 7 67,268,857 (GRCm39) missense probably damaging 1.00
R0549:Lrrc28 UTSW 7 67,278,090 (GRCm39) splice site probably benign
R0563:Lrrc28 UTSW 7 67,195,135 (GRCm39) missense probably damaging 1.00
R0650:Lrrc28 UTSW 7 67,267,833 (GRCm39) missense probably damaging 1.00
R0652:Lrrc28 UTSW 7 67,267,833 (GRCm39) missense probably damaging 1.00
R1557:Lrrc28 UTSW 7 67,209,677 (GRCm39) missense probably damaging 1.00
R1820:Lrrc28 UTSW 7 67,290,859 (GRCm39) missense probably damaging 0.98
R2149:Lrrc28 UTSW 7 67,181,430 (GRCm39) missense probably damaging 0.96
R2185:Lrrc28 UTSW 7 67,195,201 (GRCm39) missense possibly damaging 0.70
R5205:Lrrc28 UTSW 7 67,181,516 (GRCm39) missense probably benign 0.00
R7008:Lrrc28 UTSW 7 67,245,459 (GRCm39) intron probably benign
R7925:Lrrc28 UTSW 7 67,268,857 (GRCm39) missense probably damaging 1.00
R8323:Lrrc28 UTSW 7 67,245,455 (GRCm39) missense unknown
R8360:Lrrc28 UTSW 7 67,290,909 (GRCm39) missense probably benign 0.01
R8898:Lrrc28 UTSW 7 67,278,042 (GRCm39) critical splice donor site probably null
R8919:Lrrc28 UTSW 7 67,268,833 (GRCm39) missense possibly damaging 0.88
R9412:Lrrc28 UTSW 7 67,181,512 (GRCm39) missense probably damaging 1.00
Z1088:Lrrc28 UTSW 7 67,179,379 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- CTGAGACAGGAAGACCACTG -3'
(R):5'- TCATGACTAATGCCCCTGTG -3'

Sequencing Primer
(F):5'- GGAAGACCACTGACATACTCAATG -3'
(R):5'- TATGCAGCTGTGGCATCC -3'
Posted On 2015-07-21