Incidental Mutation 'R4659:Lrrc9'
ID 352699
Institutional Source Beutler Lab
Gene Symbol Lrrc9
Ensembl Gene ENSMUSG00000021090
Gene Name leucine rich repeat containing 9
Synonyms 4921529O18Rik, 4930432K16Rik
MMRRC Submission 041919-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R4659 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 72481391-72561269 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72517038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 597 (F597I)
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 damaging
Transcript: ENSMUST00000161284
AA Change: F597I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124602
Gene: ENSMUSG00000021090
AA Change: F597I

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 noncoding transcript
Transcript: ENSMUST00000161957
Predicted Effect probably damaging
Transcript: ENSMUST00000162159
AA Change: F596I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: F596I

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 noncoding transcript
Transcript: ENSMUST00000162179
Predicted Effect probably damaging
Transcript: ENSMUST00000221360
AA Change: F597I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.1073 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 96% (74/77)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C A 6: 142,618,321 (GRCm39) probably null Het
Ankrd22 C T 19: 34,102,968 (GRCm39) V118I probably damaging Het
Aoc1 A T 6: 48,883,010 (GRCm39) E295D probably benign Het
Arap2 T C 5: 62,811,469 (GRCm39) N1114S possibly damaging Het
AU021092 C G 16: 5,030,011 (GRCm39) A335P probably damaging Het
Carhsp1 T C 16: 8,482,129 (GRCm39) T51A probably benign Het
Cdc42bpb T C 12: 111,306,325 (GRCm39) D152G probably damaging Het
Cep70 T A 9: 99,178,394 (GRCm39) D497E possibly damaging Het
Chrm5 T C 2: 112,310,102 (GRCm39) N338S probably benign Het
Cldn8 G A 16: 88,359,296 (GRCm39) H210Y probably benign Het
Clhc1 T A 11: 29,528,229 (GRCm39) *586K probably null Het
Cplane1 G T 15: 8,245,760 (GRCm39) probably benign Het
Dop1a T A 9: 86,384,085 (GRCm39) probably benign Het
Dync1h1 T C 12: 110,595,201 (GRCm39) F1371S possibly damaging Het
Eif6 A G 2: 155,668,101 (GRCm39) I46T probably damaging Het
Esco2 G A 14: 66,064,035 (GRCm39) T383M possibly damaging Het
Exoc8 T C 8: 125,624,271 (GRCm39) D32G probably damaging Het
Fam149b G T 14: 20,417,941 (GRCm39) S216I probably benign Het
Fam219a T C 4: 41,521,645 (GRCm39) D87G probably null Het
Fbxw26 A T 9: 109,573,939 (GRCm39) V71D probably damaging Het
Gabra4 T A 5: 71,798,487 (GRCm39) K164M probably damaging Het
Gm57858 T C 3: 36,080,103 (GRCm39) D218G possibly damaging Het
Gm8603 G A 17: 13,737,290 (GRCm39) noncoding transcript Het
Gnmt A G 17: 47,036,892 (GRCm39) F239S probably damaging Het
Gpsm1 G A 2: 26,209,843 (GRCm39) probably benign Het
Jam2 G A 16: 84,609,840 (GRCm39) V151M probably damaging Het
Kcnj1 A T 9: 32,305,444 (GRCm39) D2V probably benign Het
Limch1 C T 5: 67,184,900 (GRCm39) R797C probably damaging Het
Lrriq3 T A 3: 154,835,090 (GRCm39) I275N possibly damaging Het
Mcoln1 T A 8: 3,560,840 (GRCm39) S387R probably damaging Het
Mgst3 T A 1: 167,204,848 (GRCm39) Q58L probably damaging Het
Mical1 G A 10: 41,362,932 (GRCm39) probably benign Het
Mmp3 C A 9: 7,453,673 (GRCm39) D431E probably benign Het
Mx1 T C 16: 97,256,439 (GRCm39) probably null Het
Myo7a A G 7: 97,734,673 (GRCm39) L607P probably damaging Het
Myt1l A G 12: 29,899,456 (GRCm39) N153D probably damaging Het
Nfu1 A T 6: 86,996,408 (GRCm39) T120S probably damaging Het
Nhlrc2 T C 19: 56,564,699 (GRCm39) V341A possibly damaging Het
Notch1 T C 2: 26,360,901 (GRCm39) E1148G probably damaging Het
Nqo1 C T 8: 108,117,676 (GRCm39) probably null Het
Nwd1 T A 8: 73,421,949 (GRCm39) D998E probably benign Het
Or8k18 G A 2: 86,085,357 (GRCm39) Q227* probably null Het
Oxct2a T C 4: 123,216,473 (GRCm39) I303V probably benign Het
Parp10 A T 15: 76,127,185 (GRCm39) D58E probably damaging Het
Pcdha6 T A 18: 37,102,292 (GRCm39) V495E probably damaging Het
Pitrm1 T A 13: 6,603,218 (GRCm39) S88R probably benign Het
Pxdn T C 12: 30,044,552 (GRCm39) V510A probably benign Het
Ranbp17 T A 11: 33,216,288 (GRCm39) D820V probably damaging Het
Sec24c G T 14: 20,733,212 (GRCm39) G180C probably damaging Het
Serpina3n T C 12: 104,379,752 (GRCm39) S382P probably benign Het
Sestd1 A T 2: 77,042,843 (GRCm39) M237K probably null Het
Sf3a2 T C 10: 80,639,418 (GRCm39) I136T probably damaging Het
Sh3tc2 A G 18: 62,107,580 (GRCm39) Y197C probably benign Het
Speer4b T C 5: 27,702,893 (GRCm39) K204E probably benign Het
Speer4f1 A C 5: 17,681,221 (GRCm39) E33A possibly damaging Het
Sspo T A 6: 48,461,147 (GRCm39) D3529E probably damaging Het
Stard13 T C 5: 150,986,253 (GRCm39) D419G probably benign Het
Tg A G 15: 66,545,769 (GRCm39) S164G possibly damaging Het
Thap12 A G 7: 98,359,298 (GRCm39) probably benign Het
Thsd1 C A 8: 22,749,314 (GRCm39) Y667* probably null Het
Tnks A C 8: 35,316,465 (GRCm39) Y885D possibly damaging Het
Ttll3 A G 6: 113,391,102 (GRCm39) I896V probably benign Het
Txnip T G 3: 96,466,743 (GRCm39) F190C probably damaging Het
Urb1 T C 16: 90,573,017 (GRCm39) D1005G probably damaging Het
Usp3 T C 9: 66,434,352 (GRCm39) probably null Het
Usp54 G T 14: 20,615,060 (GRCm39) Q794K probably damaging Het
Xrn2 A G 2: 146,903,394 (GRCm39) Q798R probably benign Het
Zfp189 A G 4: 49,530,342 (GRCm39) I482V probably benign Het
Zfp28 A G 7: 6,396,506 (GRCm39) N314D probably benign Het
Zmym4 A G 4: 126,842,221 (GRCm39) probably null 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
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'- TCATAACAGCCGCAATTTGG -3'
(R):5'- GAACAGCCATTGTGTGTACAC -3'

Sequencing Primer
(F):5'- CAATTTGGTAATTGTGGGGAGTTG -3'
(R):5'- GCACACAAAGAATTGATAAGCATACG -3'
Posted On 2015-10-08