Incidental Mutation 'R1564:Lrrc9'
ID 175140
Institutional Source Beutler Lab
Gene Symbol Lrrc9
Ensembl Gene ENSMUSG00000021090
Gene Name leucine rich repeat containing 9
Synonyms 4921529O18Rik, 4930432K16Rik
MMRRC Submission 039603-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R1564 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 72481391-72561269 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72533827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1032 (E1032G)
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: E1032G

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124602
Gene: ENSMUSG00000021090
AA Change: E1032G

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 damaging
Transcript: ENSMUST00000162159
AA Change: E1031G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: E1031G

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 damaging
Transcript: ENSMUST00000221360
AA Change: E1032G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 91.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,384,316 (GRCm39) Q3923* probably null Het
Abcc12 T A 8: 87,244,115 (GRCm39) T1013S probably benign Het
Acad9 T C 3: 36,143,578 (GRCm39) I558T possibly damaging Het
Agbl4 C A 4: 110,812,761 (GRCm39) probably null Het
Akr1b1 C T 6: 34,283,470 (GRCm39) probably null Het
Aktip A G 8: 91,857,709 (GRCm39) M1T probably null Het
Apc G T 18: 34,448,202 (GRCm39) Q1665H probably benign Het
Arfgef3 T C 10: 18,467,452 (GRCm39) D1916G probably damaging Het
Arhgef11 T C 3: 87,609,817 (GRCm39) V365A probably benign Het
Bank1 C A 3: 135,919,602 (GRCm39) E265* probably null Het
Bbs7 A T 3: 36,629,944 (GRCm39) D578E probably damaging Het
Bin3 T C 14: 70,372,218 (GRCm39) F172L probably damaging Het
Bves A G 10: 45,245,377 (GRCm39) D350G probably benign Het
Cacna1h A T 17: 25,596,835 (GRCm39) C80* probably null Het
Cacna2d4 T C 6: 119,218,156 (GRCm39) F164L possibly damaging Het
Cenpj T C 14: 56,789,523 (GRCm39) D842G probably benign Het
Col12a1 C A 9: 79,521,122 (GRCm39) R2781L probably damaging Het
Cyp2c68 A T 19: 39,724,024 (GRCm39) C213* probably null Het
Defb33 T A 8: 21,387,597 (GRCm39) C45S possibly damaging Het
Dolk A T 2: 30,175,633 (GRCm39) N137K probably damaging Het
Fam171b G A 2: 83,710,628 (GRCm39) E767K probably damaging Het
Fbxl20 A T 11: 97,989,312 (GRCm39) D189E probably damaging Het
Gm10643 A T 8: 84,791,111 (GRCm39) M1K probably null Het
Gm572 T G 4: 148,735,643 (GRCm39) I24S possibly damaging Het
Gnpda1 A G 18: 38,471,142 (GRCm39) probably null Het
Gpr141b T C 13: 19,913,470 (GRCm39) noncoding transcript Het
Helz2 G T 2: 180,875,021 (GRCm39) N1824K probably benign Het
Insl3 G T 8: 72,142,935 (GRCm39) A99S possibly damaging Het
Lpin2 G A 17: 71,532,055 (GRCm39) V137I probably benign Het
Macf1 T C 4: 123,353,150 (GRCm39) T1510A probably benign Het
Mnd1 T C 3: 84,023,738 (GRCm39) E116G probably benign Het
Mycbp2 A G 14: 103,407,287 (GRCm39) probably null Het
Myoz3 G A 18: 60,713,914 (GRCm39) S23L probably benign Het
Napsa G T 7: 44,236,073 (GRCm39) V371F probably damaging Het
Nefh T C 11: 4,889,878 (GRCm39) T914A unknown Het
Neurod2 A T 11: 98,218,250 (GRCm39) C305S probably damaging Het
Nmnat3 T C 9: 98,236,219 (GRCm39) probably null Het
Nuf2 A G 1: 169,326,362 (GRCm39) V463A unknown Het
Olfml1 A T 7: 107,170,346 (GRCm39) T78S possibly damaging Het
Opcml G A 9: 28,814,612 (GRCm39) C288Y probably damaging Het
Oprl1 T C 2: 181,360,733 (GRCm39) I222T possibly damaging Het
Or13a28 G A 7: 140,217,967 (GRCm39) V118I probably benign Het
Or4c104 A T 2: 88,587,000 (GRCm39) N6K possibly damaging Het
Or4c122 G T 2: 89,080,016 (GRCm39) N7K probably benign Het
Or6c210 T C 10: 129,495,884 (GRCm39) F70L probably benign Het
Pcsk5 A G 19: 17,632,120 (GRCm39) Y349H probably damaging Het
Pla2g4d C A 2: 120,099,384 (GRCm39) R706L possibly damaging Het
Pmm1 A G 15: 81,840,401 (GRCm39) Y55H probably damaging Het
Polb A G 8: 23,120,357 (GRCm39) probably null Het
Pom121l2 T C 13: 22,167,523 (GRCm39) I598T possibly damaging Het
Pxmp2 C T 5: 110,429,062 (GRCm39) probably null Het
Rbm39 G T 2: 155,996,177 (GRCm39) L403I probably benign Het
Rec8 T C 14: 55,859,732 (GRCm39) probably null Het
Reck T C 4: 43,912,061 (GRCm39) I190T probably benign Het
Rer1 A T 4: 155,160,050 (GRCm39) I166N probably damaging Het
Rgs17 T A 10: 5,792,567 (GRCm39) K60* probably null Het
Ripor2 C T 13: 24,859,768 (GRCm39) T152M probably damaging Het
Scgb1b2 A T 7: 30,991,200 (GRCm39) probably benign Het
Scn3a C A 2: 65,344,979 (GRCm39) R503M probably damaging Het
Scn4a C A 11: 106,236,367 (GRCm39) D298Y probably benign Het
Scn9a A G 2: 66,314,648 (GRCm39) F1679S probably damaging Het
Scyl3 G T 1: 163,767,553 (GRCm39) probably null Het
Sec23ip A G 7: 128,368,005 (GRCm39) probably null Het
She C T 3: 89,756,921 (GRCm39) A325V possibly damaging Het
Skint2 T G 4: 112,483,195 (GRCm39) M200R probably damaging Het
Slc17a5 A T 9: 78,485,981 (GRCm39) C35S probably damaging Het
Slc25a24 T A 3: 109,070,819 (GRCm39) S393T probably damaging Het
Slc6a19 C T 13: 73,834,243 (GRCm39) V320M probably damaging Het
Snap91 T C 9: 86,674,249 (GRCm39) D579G possibly damaging Het
Spats2l C T 1: 57,985,383 (GRCm39) R479C probably damaging Het
Syngr3 G C 17: 24,905,642 (GRCm39) probably null Het
Tas2r107 A C 6: 131,636,785 (GRCm39) I88R probably damaging Het
Them7 A T 2: 105,128,259 (GRCm39) N80I probably damaging Het
Tmprss7 C T 16: 45,482,516 (GRCm39) probably null Het
Tnrc6b A G 15: 80,764,369 (GRCm39) N624D possibly damaging Het
Trpm2 T G 10: 77,778,833 (GRCm39) I378L probably benign Het
Ttn C A 2: 76,554,876 (GRCm39) W30676L probably damaging Het
Ttn A G 2: 76,774,384 (GRCm39) V2220A unknown Het
Uba6 T C 5: 86,302,266 (GRCm39) T134A probably benign Het
Vmn2r55 A G 7: 12,418,678 (GRCm39) S81P probably damaging Het
Zfp616 T A 11: 73,975,548 (GRCm39) S606T probably damaging Het
Zfp653 C A 9: 21,967,155 (GRCm39) A577S probably damaging 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
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
R6255:Lrrc9 UTSW 12 72,533,797 (GRCm39) missense probably benign 0.33
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'- AAATTCTCTCCACTGGCTCCAAGC -3'
(R):5'- AGATGCAAAGCTCAGTGCCTCG -3'

Sequencing Primer
(F):5'- CCTGAGCGAAAGCACATAGTATTTG -3'
(R):5'- CTCTGCCTCAAGTTAAGACCATTAAG -3'
Posted On 2014-04-24