Incidental Mutation 'R6255:Lrrc9'
ID 506071
Institutional Source Beutler Lab
Gene Symbol Lrrc9
Ensembl Gene ENSMUSG00000021090
Gene Name leucine rich repeat containing 9
Synonyms 4921529O18Rik, 4930432K16Rik
MMRRC Submission 044372-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R6255 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 72481391-72561269 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72533797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1022 (M1022K)
Ref Sequence ENSEMBL: ENSMUSP00000152125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161284] [ENSMUST00000162159] [ENSMUST00000221360]
AlphaFold Q8CDN9
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161195
Predicted Effect probably benign
Transcript: ENSMUST00000161284
AA Change: M1022K

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124602
Gene: ENSMUSG00000021090
AA Change: M1022K

DomainStartEndE-ValueType
Pfam:LRR_4 77 118 2.8e-11 PFAM
LRR 119 140 8.49e1 SMART
LRR 141 164 2.27e1 SMART
LRR 165 187 2.09e2 SMART
LRRcap 210 228 6.12e1 SMART
low complexity region 373 384 N/A INTRINSIC
low complexity region 424 436 N/A INTRINSIC
LRR 706 727 1.41e2 SMART
LRR 728 749 6.78e1 SMART
LRR 750 773 7.17e1 SMART
LRRcap 793 811 2.26e2 SMART
LRR 943 966 2.67e-1 SMART
LRR 967 992 1.22e1 SMART
LRRcap 1031 1049 4.37e0 SMART
low complexity region 1109 1120 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162159
AA Change: M1021K

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: M1021K

DomainStartEndE-ValueType
LRR 53 74 5.39e2 SMART
LRR 75 96 1.14e2 SMART
LRR 97 118 7.9e-4 SMART
LRR 119 140 2.75e-3 SMART
LRR 141 164 2.27e1 SMART
LRR 164 185 1.87e1 SMART
LRRcap 210 228 6.12e1 SMART
low complexity region 373 384 N/A INTRINSIC
low complexity region 424 436 N/A INTRINSIC
LRR 705 726 1.41e2 SMART
LRR 727 748 6.78e1 SMART
LRR 749 771 1.37e1 SMART
LRRcap 792 810 2.26e2 SMART
LRR 898 919 2.62e1 SMART
LRR 920 941 5.17e1 SMART
LRR 942 965 2.67e-1 SMART
LRR 966 991 1.22e1 SMART
LRR 1013 1032 4.42e2 SMART
LRRcap 1030 1048 4.37e0 SMART
low complexity region 1108 1119 N/A INTRINSIC
LRR 1128 1150 2.4e1 SMART
LRR 1191 1209 5.7e2 SMART
LRR 1215 1236 1.03e-2 SMART
LRR 1237 1260 8.48e0 SMART
LRR 1283 1304 2.67e-1 SMART
Blast:LRR 1308 1333 4e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000221360
AA Change: M1022K

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,602,659 (GRCm39) V7E possibly damaging Het
Aars2 G A 17: 45,825,535 (GRCm39) G333S probably damaging Het
Aen T A 7: 78,555,592 (GRCm39) I85N probably damaging Het
Ahnak C A 19: 8,985,389 (GRCm39) H2224Q possibly damaging Het
Aldh18a1 C T 19: 40,568,487 (GRCm39) R41H possibly damaging Het
Bpifb9b T A 2: 154,151,284 (GRCm39) W2R probably damaging Het
Caprin2 A G 6: 148,779,390 (GRCm39) I139T probably benign Het
Cdhr3 T A 12: 33,103,474 (GRCm39) N381I probably damaging Het
Cecr2 A G 6: 120,735,011 (GRCm39) Y721C probably damaging Het
Cfhr4 A T 1: 139,680,749 (GRCm39) C256* probably null Het
Cherp G T 8: 73,224,725 (GRCm39) A125D probably damaging Het
Cped1 G A 6: 22,138,714 (GRCm39) probably null Het
Ctdp1 T A 18: 80,502,512 (GRCm39) probably null Het
Cyp2c55 T C 19: 39,007,111 (GRCm39) I169T probably benign Het
Cyp4a31 T C 4: 115,432,117 (GRCm39) L418P possibly damaging Het
Efcab7 T C 4: 99,717,627 (GRCm39) probably benign Het
Efcab8 T C 2: 153,652,188 (GRCm39) W466R possibly damaging Het
Ehd3 C A 17: 74,112,408 (GRCm39) N57K probably benign Het
Ern2 C A 7: 121,772,495 (GRCm39) K654N probably damaging Het
Fbh1 A T 2: 11,753,257 (GRCm39) F879L probably benign Het
Gde1 T C 7: 118,291,004 (GRCm39) D92G probably null Het
Heatr5b A G 17: 79,110,863 (GRCm39) V995A probably damaging Het
Ifrd2 A G 9: 107,469,290 (GRCm39) E346G probably damaging Het
Ism1 AACGGACCCGTTCTTGTGGCTATGCA AA 2: 139,587,962 (GRCm39) probably benign Het
Itgb4 T C 11: 115,888,963 (GRCm39) V1102A possibly damaging Het
Itgb6 A T 2: 60,435,620 (GRCm39) I710N probably damaging Het
Kif1a T C 1: 92,947,705 (GRCm39) K1578E probably damaging Het
Kif9 T C 9: 110,346,902 (GRCm39) probably null Het
Kitl T C 10: 99,925,095 (GRCm39) *57Q probably null Het
Lrat C A 3: 82,810,812 (GRCm39) V70F probably damaging Het
Muc16 T C 9: 18,566,895 (GRCm39) T1875A unknown Het
Mup4 T A 4: 59,957,890 (GRCm39) N171I probably damaging Het
Npas4 G A 19: 5,036,403 (GRCm39) T587I probably damaging Het
Oas3 A G 5: 120,909,295 (GRCm39) V217A probably benign Het
Or6c1b A G 10: 129,273,557 (GRCm39) N292S possibly damaging Het
Osbp C A 19: 11,955,317 (GRCm39) A323D possibly damaging Het
Panx2 G A 15: 88,951,821 (GRCm39) R96H probably damaging Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Piezo2 T C 18: 63,254,341 (GRCm39) R385G possibly damaging Het
Pkn2 T C 3: 142,517,360 (GRCm39) T476A probably damaging Het
Plekha4 T C 7: 45,203,226 (GRCm39) probably benign Het
Ppfibp2 T C 7: 107,280,969 (GRCm39) S94P probably damaging Het
Pramel7 T A 2: 87,320,007 (GRCm39) I429L probably benign Het
Rif1 A G 2: 51,975,065 (GRCm39) K325E probably damaging Het
Ror2 T C 13: 53,264,578 (GRCm39) Y826C probably damaging Het
Rsph10b G A 5: 143,896,564 (GRCm39) G19R probably damaging Het
Slc20a1 A G 2: 129,049,924 (GRCm39) N361D probably damaging Het
Slc26a9 A G 1: 131,691,647 (GRCm39) D630G probably benign Het
Smtnl2 G A 11: 72,292,225 (GRCm39) A274V probably damaging Het
Trank1 T C 9: 111,181,314 (GRCm39) probably null Het
Tspan10 T A 11: 120,335,368 (GRCm39) C159* probably null Het
Uba6 G A 5: 86,312,624 (GRCm39) T23I probably benign Het
Vmn2r74 T C 7: 85,601,659 (GRCm39) T660A possibly damaging Het
Vwa5b1 T C 4: 138,305,983 (GRCm39) N905S probably benign Het
Zfp831 T C 2: 174,488,214 (GRCm39) L963P possibly damaging Het
Zfp990 T A 4: 145,264,359 (GRCm39) N452K probably benign Het
Other mutations in Lrrc9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Lrrc9 APN 12 72,533,017 (GRCm39) missense possibly damaging 0.63
IGL00843:Lrrc9 APN 12 72,510,191 (GRCm39) missense possibly damaging 0.78
IGL01923:Lrrc9 APN 12 72,557,186 (GRCm39) missense possibly damaging 0.93
IGL02027:Lrrc9 APN 12 72,517,108 (GRCm39) splice site probably benign
IGL02271:Lrrc9 APN 12 72,557,155 (GRCm39) missense probably benign 0.06
IGL02398:Lrrc9 APN 12 72,513,677 (GRCm39) missense probably benign
IGL02795:Lrrc9 APN 12 72,525,542 (GRCm39) missense probably damaging 1.00
IGL02931:Lrrc9 APN 12 72,500,923 (GRCm39) missense probably damaging 1.00
IGL03257:Lrrc9 APN 12 72,496,542 (GRCm39) missense probably benign
BB006:Lrrc9 UTSW 12 72,533,071 (GRCm39) missense possibly damaging 0.92
BB016:Lrrc9 UTSW 12 72,533,071 (GRCm39) missense possibly damaging 0.92
IGL02799:Lrrc9 UTSW 12 72,553,178 (GRCm39) missense probably damaging 1.00
R0172:Lrrc9 UTSW 12 72,510,260 (GRCm39) missense possibly damaging 0.50
R0315:Lrrc9 UTSW 12 72,502,802 (GRCm39) missense probably damaging 0.96
R0492:Lrrc9 UTSW 12 72,525,537 (GRCm39) missense possibly damaging 0.47
R0617:Lrrc9 UTSW 12 72,529,788 (GRCm39) missense probably damaging 1.00
R0639:Lrrc9 UTSW 12 72,533,062 (GRCm39) missense probably damaging 1.00
R0987:Lrrc9 UTSW 12 72,557,156 (GRCm39) missense probably benign 0.00
R1325:Lrrc9 UTSW 12 72,543,878 (GRCm39) missense probably damaging 0.99
R1465:Lrrc9 UTSW 12 72,547,533 (GRCm39) missense probably benign 0.05
R1465:Lrrc9 UTSW 12 72,547,533 (GRCm39) missense probably benign 0.05
R1479:Lrrc9 UTSW 12 72,507,599 (GRCm39) nonsense probably null
R1564:Lrrc9 UTSW 12 72,533,827 (GRCm39) missense probably damaging 1.00
R1626:Lrrc9 UTSW 12 72,542,435 (GRCm39) splice site probably null
R1632:Lrrc9 UTSW 12 72,506,794 (GRCm39) splice site probably null
R1715:Lrrc9 UTSW 12 72,524,073 (GRCm39) missense probably damaging 1.00
R1743:Lrrc9 UTSW 12 72,502,891 (GRCm39) missense probably damaging 1.00
R1779:Lrrc9 UTSW 12 72,502,772 (GRCm39) nonsense probably null
R1866:Lrrc9 UTSW 12 72,543,912 (GRCm39) missense probably damaging 0.97
R1878:Lrrc9 UTSW 12 72,522,938 (GRCm39) critical splice donor site probably null
R1990:Lrrc9 UTSW 12 72,544,635 (GRCm39) missense probably damaging 0.99
R2361:Lrrc9 UTSW 12 72,510,244 (GRCm39) missense possibly damaging 0.52
R3752:Lrrc9 UTSW 12 72,507,580 (GRCm39) nonsense probably null
R3833:Lrrc9 UTSW 12 72,529,765 (GRCm39) missense probably damaging 1.00
R4134:Lrrc9 UTSW 12 72,513,740 (GRCm39) missense probably benign 0.00
R4651:Lrrc9 UTSW 12 72,524,160 (GRCm39) missense probably damaging 1.00
R4652:Lrrc9 UTSW 12 72,524,160 (GRCm39) missense probably damaging 1.00
R4659:Lrrc9 UTSW 12 72,517,038 (GRCm39) missense probably damaging 1.00
R4831:Lrrc9 UTSW 12 72,546,453 (GRCm39) missense probably damaging 1.00
R4857:Lrrc9 UTSW 12 72,546,466 (GRCm39) missense possibly damaging 0.94
R5017:Lrrc9 UTSW 12 72,553,099 (GRCm39) missense possibly damaging 0.86
R5163:Lrrc9 UTSW 12 72,496,163 (GRCm39) missense probably damaging 1.00
R5279:Lrrc9 UTSW 12 72,542,368 (GRCm39) missense possibly damaging 0.80
R5434:Lrrc9 UTSW 12 72,500,862 (GRCm39) missense probably damaging 0.98
R5783:Lrrc9 UTSW 12 72,502,827 (GRCm39) missense possibly damaging 0.62
R6021:Lrrc9 UTSW 12 72,516,005 (GRCm39) missense probably damaging 0.97
R6214:Lrrc9 UTSW 12 72,506,627 (GRCm39) missense probably damaging 1.00
R6538:Lrrc9 UTSW 12 72,547,703 (GRCm39) missense probably benign 0.08
R6563:Lrrc9 UTSW 12 72,533,169 (GRCm39) splice site probably null
R6672:Lrrc9 UTSW 12 72,520,710 (GRCm39) missense possibly damaging 0.88
R6919:Lrrc9 UTSW 12 72,553,167 (GRCm39) missense probably benign 0.01
R6929:Lrrc9 UTSW 12 72,497,546 (GRCm39) missense probably benign 0.41
R7092:Lrrc9 UTSW 12 72,510,238 (GRCm39) missense possibly damaging 0.81
R7150:Lrrc9 UTSW 12 72,513,726 (GRCm39) missense probably benign 0.00
R7338:Lrrc9 UTSW 12 72,510,305 (GRCm39) splice site probably null
R7398:Lrrc9 UTSW 12 72,547,590 (GRCm39) missense probably damaging 0.98
R7477:Lrrc9 UTSW 12 72,550,301 (GRCm39) critical splice donor site probably null
R7501:Lrrc9 UTSW 12 72,496,490 (GRCm39) missense probably damaging 1.00
R7542:Lrrc9 UTSW 12 72,553,094 (GRCm39) missense probably damaging 0.96
R7816:Lrrc9 UTSW 12 72,542,466 (GRCm39) missense probably damaging 1.00
R7870:Lrrc9 UTSW 12 72,532,964 (GRCm39) missense probably damaging 0.99
R7929:Lrrc9 UTSW 12 72,533,071 (GRCm39) missense possibly damaging 0.92
R8042:Lrrc9 UTSW 12 72,507,680 (GRCm39) missense probably benign 0.02
R8108:Lrrc9 UTSW 12 72,500,833 (GRCm39) missense probably damaging 1.00
R8192:Lrrc9 UTSW 12 72,496,163 (GRCm39) missense probably damaging 1.00
R8244:Lrrc9 UTSW 12 72,546,384 (GRCm39) missense probably benign 0.22
R8333:Lrrc9 UTSW 12 72,528,317 (GRCm39) missense probably benign 0.38
R9288:Lrrc9 UTSW 12 72,522,858 (GRCm39) missense probably benign 0.01
R9324:Lrrc9 UTSW 12 72,496,171 (GRCm39) missense probably damaging 1.00
R9342:Lrrc9 UTSW 12 72,506,767 (GRCm39) missense probably damaging 1.00
R9557:Lrrc9 UTSW 12 72,532,981 (GRCm39) missense probably benign 0.01
R9624:Lrrc9 UTSW 12 72,497,586 (GRCm39) missense probably benign 0.19
R9677:Lrrc9 UTSW 12 72,497,539 (GRCm39) missense probably damaging 1.00
X0025:Lrrc9 UTSW 12 72,543,834 (GRCm39) missense probably damaging 1.00
Z1176:Lrrc9 UTSW 12 72,524,167 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGACTACCTTATTTTCCACGAACAC -3'
(R):5'- ATAAGCATGGTGGGGTTCAG -3'

Sequencing Primer
(F):5'- TCCACGAACACTCATTCTATGATAG -3'
(R):5'- AGCATGGTGGGGTTCAGTATAATAC -3'
Posted On 2018-02-28