Incidental Mutation 'R7816:Lrrc9'
ID 601553
Institutional Source Beutler Lab
Gene Symbol Lrrc9
Ensembl Gene ENSMUSG00000021090
Gene Name leucine rich repeat containing 9
Synonyms 4921529O18Rik, 4930432K16Rik
MMRRC Submission 045870-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R7816 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 72481391-72561269 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72542466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1096 (I1096N)
Ref Sequence ENSEMBL: ENSMUSP00000124602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161284] [ENSMUST00000162159] [ENSMUST00000220791] [ENSMUST00000221360]
AlphaFold Q8CDN9
Predicted Effect probably damaging
Transcript: ENSMUST00000161284
AA Change: I1096N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124602
Gene: ENSMUSG00000021090
AA Change: I1096N

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: I1095N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: I1095N

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: ENSMUST00000220791
AA Change: I9N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000221360
AA Change: I1096N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,331,588 (GRCm39) S1321P probably benign Het
Abcb1a T C 5: 8,736,132 (GRCm39) V175A possibly damaging Het
Adamts20 T A 15: 94,220,725 (GRCm39) M1403L probably benign Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Amotl2 T A 9: 102,608,853 (GRCm39) I789K probably benign Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
Bcar3 C T 3: 122,220,343 (GRCm39) T80I probably benign Het
Bcas1 G T 2: 170,248,347 (GRCm39) F181L probably benign Het
Cacnb1 T C 11: 97,896,115 (GRCm39) E389G probably damaging Het
Cd52 A T 4: 133,821,199 (GRCm39) probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Coro2a T C 4: 46,546,809 (GRCm39) D182G probably benign Het
Crp T C 1: 172,526,277 (GRCm39) S121P possibly damaging Het
Csnka2ip T C 16: 64,299,852 (GRCm39) probably benign Het
Cttnbp2 T C 6: 18,448,413 (GRCm39) D82G probably damaging Het
Cyp2b9 A G 7: 25,900,517 (GRCm39) N385S probably benign Het
Dppa1 A G 11: 46,507,003 (GRCm39) S26P possibly damaging Het
Eif4e3 T C 6: 99,617,599 (GRCm39) R91G probably damaging Het
F13a1 A T 13: 37,209,745 (GRCm39) N73K probably benign Het
Fbxl13 T C 5: 21,748,785 (GRCm39) Y378C probably benign Het
Glis2 G A 16: 4,431,328 (GRCm39) R285H probably damaging Het
Gm17174 T A 14: 51,829,569 (GRCm39) probably benign Het
Golga1 G A 2: 38,942,110 (GRCm39) S102F probably damaging Het
Hdac1 A T 4: 129,411,888 (GRCm39) Y336N probably damaging Het
Hfe G T 13: 23,888,382 (GRCm39) T168K possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ighv1-56 T C 12: 115,206,846 (GRCm39) S4G probably benign Het
Ino80d A G 1: 63,125,556 (GRCm39) Y74H probably damaging Het
Ints1 A T 5: 139,757,134 (GRCm39) H427Q possibly damaging Het
Itpkb T A 1: 180,241,454 (GRCm39) V708E probably damaging Het
Jmjd4 G T 11: 59,341,162 (GRCm39) G31V probably benign Het
Kcnh5 C T 12: 75,023,457 (GRCm39) C537Y probably damaging Het
Kcnj11 A T 7: 45,749,281 (GRCm39) L14Q probably damaging Het
Lipo4 A T 19: 33,491,642 (GRCm39) W114R probably damaging Het
Lyzl6 C T 11: 103,527,680 (GRCm39) V15I probably benign Het
Map4k4 A G 1: 40,053,368 (GRCm39) T856A possibly damaging Het
Mks1 T A 11: 87,751,542 (GRCm39) W346R probably damaging Het
Mtmr14 T C 6: 113,243,263 (GRCm39) Y32H probably damaging Het
Muc13 A G 16: 33,619,386 (GRCm39) S45G unknown Het
Mx2 G A 16: 97,346,812 (GRCm39) G93D probably damaging Het
Noc4l A T 5: 110,797,539 (GRCm39) V365E probably benign Het
Odf2l T C 3: 144,856,776 (GRCm39) I577T probably damaging Het
Or4l1 T C 14: 50,166,622 (GRCm39) I126M probably damaging Het
Peg10 C CTCT 6: 4,756,453 (GRCm39) probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pnoc A T 14: 65,639,307 (GRCm39) I186N possibly damaging Het
Pou4f3 A G 18: 42,528,251 (GRCm39) I65V probably benign Het
Pramel23 G T 4: 143,424,764 (GRCm39) N226K probably benign Het
Prss1l T C 6: 41,371,707 (GRCm39) L51P probably damaging Het
Ptpn21 G A 12: 98,648,791 (GRCm39) A955V probably damaging Het
Rabgap1 G T 2: 37,453,476 (GRCm39) R968L probably benign Het
Rarres1 T C 3: 67,386,677 (GRCm39) N282S probably damaging Het
Rgs17 T C 10: 5,791,501 (GRCm39) N72S probably benign Het
Rp1 T A 1: 4,417,926 (GRCm39) N1062I probably damaging Het
Rpn1 T A 6: 88,080,378 (GRCm39) V559D possibly damaging Het
Rrbp1 A T 2: 143,830,855 (GRCm39) N437K probably damaging Het
Rtn4r C A 16: 17,969,399 (GRCm39) Q276K probably benign Het
Rwdd4a T C 8: 47,990,335 (GRCm39) S16P probably damaging Het
S1pr1 A G 3: 115,505,947 (GRCm39) S216P possibly damaging Het
Scn8a C A 15: 100,908,917 (GRCm39) T795K possibly damaging Het
Spryd3 A C 15: 102,026,141 (GRCm39) F401C probably damaging Het
Stk36 G T 1: 74,650,328 (GRCm39) E287* probably null Het
Tbc1d1 G T 5: 64,507,095 (GRCm39) S1104I probably damaging Het
Tex15 A G 8: 34,071,683 (GRCm39) D2410G probably benign Het
Tmem92 T A 11: 94,669,784 (GRCm39) I116F possibly damaging Het
Trp53bp2 A G 1: 182,276,260 (GRCm39) E747G probably damaging Het
Trp63 A T 16: 25,707,990 (GRCm39) D562V probably damaging Het
Ttc21b A G 2: 66,077,705 (GRCm39) Y167H possibly damaging Het
Ubr5 G A 15: 37,980,076 (GRCm39) A2434V probably null Het
Uggt1 G A 1: 36,202,396 (GRCm39) S1067F possibly damaging Het
Vmn2r103 T A 17: 20,014,476 (GRCm39) Y423N probably benign Het
Vmn2r111 A G 17: 22,792,083 (GRCm39) Y58H probably damaging Het
Ypel3 T A 7: 126,377,013 (GRCm39) V2E probably damaging Het
Ythdf3 T C 3: 16,243,681 (GRCm39) V34A probably damaging Het
Zfp180 A T 7: 23,804,570 (GRCm39) S330C probably damaging Het
Zfp292 G A 4: 34,809,865 (GRCm39) P1060S probably benign Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) probably benign Het
Zfp981 C T 4: 146,622,100 (GRCm39) R342C 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
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
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'- TGGTCATTTGCCAGAGAGGTC -3'
(R):5'- CACTTTTGCTGTTCCGTAAAAGAAC -3'

Sequencing Primer
(F):5'- ATTTGCCAGAGAGGTCATCCC -3'
(R):5'- GCTCGCAGTAGTTTTTAACCACAG -3'
Posted On 2019-12-03