Incidental Mutation 'R1370:Lrrcc1'
ID 155924
Institutional Source Beutler Lab
Gene Symbol Lrrcc1
Ensembl Gene ENSMUSG00000027550
Gene Name leucine rich repeat and coiled-coil domain containing 1
Synonyms 1200008A14Rik, 4932441F23Rik
MMRRC Submission 039434-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1370 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 14598848-14637718 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 14613174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 299 (V299L)
Ref Sequence ENSEMBL: ENSMUSP00000128733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091325] [ENSMUST00000108370] [ENSMUST00000163660] [ENSMUST00000165436] [ENSMUST00000167858] [ENSMUST00000169079]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000091325
AA Change: V405L

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000088875
Gene: ENSMUSG00000027550
AA Change: V405L

DomainStartEndE-ValueType
Pfam:LRR_8 60 116 1.1e-9 PFAM
Pfam:LRR_4 82 126 4.8e-8 PFAM
Blast:LRR 130 151 1e-5 BLAST
coiled coil region 412 626 N/A INTRINSIC
coiled coil region 675 718 N/A INTRINSIC
coiled coil region 757 1010 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108370
AA Change: V421L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000104007
Gene: ENSMUSG00000027550
AA Change: V421L

DomainStartEndE-ValueType
Pfam:LRR_8 60 116 1.1e-9 PFAM
Pfam:LRR_4 82 124 4.5e-8 PFAM
Blast:LRR 130 151 1e-5 BLAST
low complexity region 289 301 N/A INTRINSIC
coiled coil region 428 642 N/A INTRINSIC
coiled coil region 691 734 N/A INTRINSIC
coiled coil region 773 953 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163660
AA Change: V299L

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000128733
Gene: ENSMUSG00000027550
AA Change: V299L

DomainStartEndE-ValueType
Blast:LRR 8 29 7e-6 BLAST
SCOP:d1dcea3 9 71 9e-4 SMART
low complexity region 167 179 N/A INTRINSIC
coiled coil region 306 520 N/A INTRINSIC
coiled coil region 569 612 N/A INTRINSIC
coiled coil region 651 716 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165436
SMART Domains Protein: ENSMUSP00000129430
Gene: ENSMUSG00000027550

DomainStartEndE-ValueType
Pfam:LRR_9 32 154 4e-10 PFAM
Pfam:LRR_6 60 83 1.4e-4 PFAM
Pfam:LRR_4 60 103 6.2e-11 PFAM
Pfam:LRR_8 60 116 8.1e-11 PFAM
Pfam:LRR_1 61 81 3.3e-4 PFAM
Pfam:LRR_6 78 105 3.4e-3 PFAM
Pfam:LRR_4 82 125 4.9e-9 PFAM
Pfam:LRR_6 103 125 5.1e-4 PFAM
Pfam:LRR_4 104 149 1.2e-8 PFAM
Pfam:LRR_1 105 128 3.8e-3 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167858
SMART Domains Protein: ENSMUSP00000129368
Gene: ENSMUSG00000027550

DomainStartEndE-ValueType
coiled coil region 7 221 N/A INTRINSIC
coiled coil region 270 313 N/A INTRINSIC
low complexity region 450 472 N/A INTRINSIC
SCOP:d1ek8a_ 494 550 7e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169079
AA Change: V421L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000126560
Gene: ENSMUSG00000027550
AA Change: V421L

DomainStartEndE-ValueType
Pfam:LRR_4 60 102 4.3e-9 PFAM
internal_repeat_1 109 145 1.05e-6 PROSPERO
low complexity region 289 301 N/A INTRINSIC
coiled coil region 428 642 N/A INTRINSIC
coiled coil region 691 734 N/A INTRINSIC
coiled coil region 773 1026 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171620
SMART Domains Protein: ENSMUSP00000128252
Gene: ENSMUSG00000027550

DomainStartEndE-ValueType
coiled coil region 30 91 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169799
SMART Domains Protein: ENSMUSP00000126592
Gene: ENSMUSG00000027550

DomainStartEndE-ValueType
coiled coil region 1 131 N/A INTRINSIC
coiled coil region 200 228 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.6%
  • 20x: 84.8%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Adgra3 T C 5: 50,118,129 (GRCm39) I1140V possibly damaging Het
Adrb3 A T 8: 27,717,798 (GRCm39) probably null Het
Afap1 A G 5: 36,092,944 (GRCm39) D16G unknown Het
AI593442 T C 9: 52,589,308 (GRCm39) K90E probably damaging Het
Aicda A T 6: 122,538,144 (GRCm39) N101Y probably benign Het
Alx1 A G 10: 102,864,353 (GRCm39) S39P possibly damaging Het
Ankrd52 A G 10: 128,224,565 (GRCm39) D781G possibly damaging Het
Arhgef5 T A 6: 43,260,846 (GRCm39) F1424I probably damaging Het
Atp10b G A 11: 43,042,482 (GRCm39) W14* probably null Het
Bin1 A G 18: 32,562,756 (GRCm39) I416V probably benign Het
Bptf A T 11: 106,937,920 (GRCm39) S2724T probably damaging Het
Brf1 A T 12: 112,924,728 (GRCm39) probably null Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Cd226 T A 18: 89,265,147 (GRCm39) S29T probably benign Het
Cdan1 A G 2: 120,549,620 (GRCm39) probably null Het
Chaf1a A T 17: 56,371,032 (GRCm39) H639L probably benign Het
Chd1 G A 17: 17,607,742 (GRCm39) G430D probably benign Het
Ciao3 A G 17: 25,995,962 (GRCm39) E62G probably benign Het
Clca3a2 T C 3: 144,519,624 (GRCm39) probably benign Het
Clptm1 A G 7: 19,367,797 (GRCm39) V605A possibly damaging Het
Cmpk2 A G 12: 26,521,451 (GRCm39) D241G probably damaging Het
Cryzl1 A G 16: 91,489,546 (GRCm39) V266A possibly damaging Het
Cyp2c68 A G 19: 39,729,400 (GRCm39) L29P probably damaging Het
Dennd3 A C 15: 73,412,703 (GRCm39) probably benign Het
Dennd4c T A 4: 86,729,747 (GRCm39) I783N probably damaging Het
Dock10 A G 1: 80,518,060 (GRCm39) S1305P probably damaging Het
Eml6 T G 11: 29,783,085 (GRCm39) S599R probably benign Het
Gbp8 C T 5: 105,164,442 (GRCm39) A394T possibly damaging Het
H1f10 A G 6: 87,958,133 (GRCm39) I69T probably damaging Het
Herc2 T A 7: 55,818,621 (GRCm39) C2771S probably benign Het
Ism1 A T 2: 139,573,994 (GRCm39) I115F possibly damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Itgb8 C T 12: 119,134,738 (GRCm39) G443E probably benign Het
Kalrn T A 16: 33,795,954 (GRCm39) I1274F possibly damaging Het
Klk1b11 A G 7: 43,426,331 (GRCm39) I22V probably benign Het
Krt6b T C 15: 101,585,987 (GRCm39) D362G probably damaging Het
Lce1e A G 3: 92,615,150 (GRCm39) S66P unknown Het
Letm1 A T 5: 33,936,026 (GRCm39) probably null Het
Mettl5 A T 2: 69,711,764 (GRCm39) probably null Het
Mrpl12 A G 11: 120,376,127 (GRCm39) S46G probably benign Het
Ndrg3 T C 2: 156,780,570 (GRCm39) E198G probably damaging Het
Or5ac16 A G 16: 59,022,043 (GRCm39) S249P probably damaging Het
Pcdh20 A G 14: 88,705,737 (GRCm39) I521T probably benign Het
Pdzph1 T C 17: 59,281,082 (GRCm39) D400G possibly damaging Het
Per2 A T 1: 91,373,279 (GRCm39) S170T possibly damaging Het
Pramel25 T A 4: 143,521,874 (GRCm39) L497I possibly damaging Het
Pros1 A G 16: 62,739,921 (GRCm39) K457E probably benign Het
Rer1 T A 4: 155,160,081 (GRCm39) M156L probably benign Het
Rerg A T 6: 137,034,799 (GRCm39) probably benign Het
Sel1l3 G T 5: 53,357,559 (GRCm39) H144Q possibly damaging Het
Septin2 G T 1: 93,426,828 (GRCm39) V146L probably damaging Het
Setd1b C T 5: 123,298,748 (GRCm39) probably benign Het
Sh3bp4 A T 1: 89,071,494 (GRCm39) Y114F probably benign Het
Slc44a5 C A 3: 153,948,796 (GRCm39) T188K probably benign Het
Slco6d1 A C 1: 98,350,819 (GRCm39) I100L probably benign Het
Slfn4 G T 11: 83,079,632 (GRCm39) D441Y probably damaging Het
Smg1 T C 7: 117,758,975 (GRCm39) probably benign Het
Snrpb2 A G 2: 142,907,086 (GRCm39) probably benign Het
Sspo T A 6: 48,425,560 (GRCm39) S60R probably benign Het
Stard9 T C 2: 120,527,958 (GRCm39) V1405A probably benign Het
Syt1 A G 10: 108,526,783 (GRCm39) L42P probably damaging Het
Tarbp1 T C 8: 127,175,069 (GRCm39) D789G probably benign Het
Tbcel A T 9: 42,361,358 (GRCm39) D63E probably damaging Het
Tdrd3 A T 14: 87,695,490 (GRCm39) probably benign Het
Tiam1 A T 16: 89,695,109 (GRCm39) I116N probably benign Het
Tsc22d1 A G 14: 76,675,104 (GRCm39) probably benign Het
Tsga10 G T 1: 37,874,534 (GRCm39) T117K probably damaging Het
Ttc3 A G 16: 94,219,496 (GRCm39) S492G possibly damaging Het
Ttn G T 2: 76,677,495 (GRCm39) probably benign Het
Wasf3 T C 5: 146,407,018 (GRCm39) probably benign Het
Zbtb37 C T 1: 160,859,592 (GRCm39) E238K probably benign Het
Zfp354c A G 11: 50,706,667 (GRCm39) I136T probably benign Het
Zfp384 G A 6: 125,013,416 (GRCm39) A479T probably benign Het
Zfp646 T A 7: 127,479,036 (GRCm39) N404K probably damaging Het
Other mutations in Lrrcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00978:Lrrcc1 APN 3 14,601,188 (GRCm39) missense possibly damaging 0.91
IGL01325:Lrrcc1 APN 3 14,601,601 (GRCm39) critical splice donor site probably null
IGL01681:Lrrcc1 APN 3 14,613,286 (GRCm39) missense probably benign 0.35
IGL01767:Lrrcc1 APN 3 14,612,332 (GRCm39) missense probably damaging 0.97
IGL01868:Lrrcc1 APN 3 14,619,417 (GRCm39) nonsense probably null
IGL03123:Lrrcc1 APN 3 14,601,144 (GRCm39) missense probably damaging 0.97
PIT1430001:Lrrcc1 UTSW 3 14,610,656 (GRCm39) missense probably damaging 0.99
R0295:Lrrcc1 UTSW 3 14,630,909 (GRCm39) missense probably benign 0.05
R0427:Lrrcc1 UTSW 3 14,623,416 (GRCm39) missense probably damaging 1.00
R0433:Lrrcc1 UTSW 3 14,624,434 (GRCm39) missense probably damaging 1.00
R0534:Lrrcc1 UTSW 3 14,622,333 (GRCm39) missense probably damaging 1.00
R0631:Lrrcc1 UTSW 3 14,605,179 (GRCm39) splice site probably benign
R0635:Lrrcc1 UTSW 3 14,624,288 (GRCm39) missense probably benign 0.11
R1355:Lrrcc1 UTSW 3 14,613,174 (GRCm39) missense probably benign 0.07
R1727:Lrrcc1 UTSW 3 14,602,423 (GRCm39) missense probably damaging 0.99
R1822:Lrrcc1 UTSW 3 14,624,285 (GRCm39) unclassified probably benign
R1946:Lrrcc1 UTSW 3 14,615,453 (GRCm39) missense probably benign 0.02
R2254:Lrrcc1 UTSW 3 14,612,315 (GRCm39) missense probably damaging 1.00
R2362:Lrrcc1 UTSW 3 14,628,084 (GRCm39) missense probably damaging 1.00
R2392:Lrrcc1 UTSW 3 14,601,580 (GRCm39) missense probably damaging 1.00
R4105:Lrrcc1 UTSW 3 14,615,388 (GRCm39) missense probably benign 0.21
R4464:Lrrcc1 UTSW 3 14,622,378 (GRCm39) missense probably damaging 1.00
R4484:Lrrcc1 UTSW 3 14,616,503 (GRCm39) missense probably damaging 1.00
R4543:Lrrcc1 UTSW 3 14,604,851 (GRCm39) missense probably damaging 0.98
R4718:Lrrcc1 UTSW 3 14,601,092 (GRCm39) missense probably damaging 1.00
R4734:Lrrcc1 UTSW 3 14,627,345 (GRCm39) missense probably damaging 1.00
R4799:Lrrcc1 UTSW 3 14,601,156 (GRCm39) nonsense probably null
R4841:Lrrcc1 UTSW 3 14,627,571 (GRCm39) missense probably benign 0.04
R4842:Lrrcc1 UTSW 3 14,627,571 (GRCm39) missense probably benign 0.04
R5900:Lrrcc1 UTSW 3 14,627,186 (GRCm39) missense possibly damaging 0.69
R6338:Lrrcc1 UTSW 3 14,612,376 (GRCm39) missense possibly damaging 0.48
R7001:Lrrcc1 UTSW 3 14,605,155 (GRCm39) missense probably damaging 0.99
R7036:Lrrcc1 UTSW 3 14,628,069 (GRCm39) missense possibly damaging 0.80
R7342:Lrrcc1 UTSW 3 14,619,431 (GRCm39) missense probably benign
R8038:Lrrcc1 UTSW 3 14,630,890 (GRCm39) missense possibly damaging 0.77
R8497:Lrrcc1 UTSW 3 14,605,044 (GRCm39) missense possibly damaging 0.80
R8509:Lrrcc1 UTSW 3 14,601,567 (GRCm39) missense probably damaging 1.00
R8679:Lrrcc1 UTSW 3 14,601,084 (GRCm39) missense probably benign 0.00
R8966:Lrrcc1 UTSW 3 14,602,359 (GRCm39) missense probably damaging 1.00
R9120:Lrrcc1 UTSW 3 14,615,489 (GRCm39) nonsense probably null
R9251:Lrrcc1 UTSW 3 14,623,454 (GRCm39) missense probably damaging 1.00
R9512:Lrrcc1 UTSW 3 14,613,301 (GRCm39) missense possibly damaging 0.95
R9572:Lrrcc1 UTSW 3 14,601,148 (GRCm39) nonsense probably null
R9788:Lrrcc1 UTSW 3 14,602,286 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCGGGATACTGAACCTCTTCAAAT -3'
(R):5'- ACAGTGTTGCCTTACCTATCTGTGGT -3'

Sequencing Primer
(F):5'- GTCTTGTTAGTTGTCATGAAACCC -3'
(R):5'- ACCTATCTGTGGTAATGAGAGCC -3'
Posted On 2014-02-11