Incidental Mutation 'R5900:Lrrcc1'
ID 501635
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 044099-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5900 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 14598848-14637718 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 14627186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 704 (S704R)
Ref Sequence ENSEMBL: ENSMUSP00000128733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091325] [ENSMUST00000108370] [ENSMUST00000163660] [ENSMUST00000167858] [ENSMUST00000169079]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000091325
AA Change: S810R

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000088875
Gene: ENSMUSG00000027550
AA Change: S810R

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: S826R

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104007
Gene: ENSMUSG00000027550
AA Change: S826R

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 possibly damaging
Transcript: ENSMUST00000163660
AA Change: S704R

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128733
Gene: ENSMUSG00000027550
AA Change: S704R

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 noncoding transcript
Transcript: ENSMUST00000163943
Predicted Effect probably benign
Transcript: ENSMUST00000167858
AA Change: S405R

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000129368
Gene: ENSMUSG00000027550
AA Change: S405R

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 possibly damaging
Transcript: ENSMUST00000169079
AA Change: S826R

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126560
Gene: ENSMUSG00000027550
AA Change: S826R

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: 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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,169,982 (GRCm39) T1341S possibly damaging Het
Abcc12 T C 8: 87,293,149 (GRCm39) D13G possibly damaging Het
Adam24 T C 8: 41,134,071 (GRCm39) V513A probably benign Het
Adgrg6 C T 10: 14,314,163 (GRCm39) probably null Het
Ankrd11 T C 8: 123,617,805 (GRCm39) T1995A probably benign Het
Apoh G T 11: 108,302,843 (GRCm39) K269N probably damaging Het
Bahcc1 C T 11: 120,175,319 (GRCm39) L1798F probably damaging Het
Brca2 T A 5: 150,464,597 (GRCm39) C1454S probably benign Het
Clip2 T C 5: 134,531,633 (GRCm39) D689G possibly damaging Het
Cpa5 T C 6: 30,615,115 (GRCm39) V84A probably damaging Het
Ctsh T C 9: 89,946,621 (GRCm39) I116T probably damaging Het
Dlg5 T A 14: 24,199,515 (GRCm39) E1463V probably damaging Het
Dnah11 C T 12: 118,046,166 (GRCm39) probably null Het
Dstyk G A 1: 132,384,717 (GRCm39) R737Q probably damaging Het
Galr1 A G 18: 82,411,982 (GRCm39) S295P probably damaging Het
Gpx2 A G 12: 76,839,653 (GRCm39) V115A probably damaging Het
Hhipl2 A G 1: 183,207,597 (GRCm39) I219V possibly damaging Het
Hkdc1 T C 10: 62,244,445 (GRCm39) M214V possibly damaging Het
Lrfn2 T C 17: 49,377,291 (GRCm39) V124A possibly damaging Het
Marveld2 T C 13: 100,748,176 (GRCm39) Y301C probably damaging Het
Mcpt8 T C 14: 56,319,740 (GRCm39) I237V probably damaging Het
Mtus1 A T 8: 41,536,534 (GRCm39) V394D possibly damaging Het
Ncapd3 T A 9: 26,978,265 (GRCm39) D821E probably benign Het
Pcdh9 T C 14: 93,564,156 (GRCm39) D1058G probably damaging Het
Pld2 G A 11: 70,446,888 (GRCm39) probably null Het
Prdm2 A G 4: 142,861,290 (GRCm39) S667P probably damaging Het
Ptgdr2 A T 19: 10,918,352 (GRCm39) probably null Het
Rfx7 C T 9: 72,524,538 (GRCm39) T576I probably benign Het
Safb T C 17: 56,907,349 (GRCm39) C426R unknown Het
Serpina9 G A 12: 103,975,130 (GRCm39) R8* probably null Het
Shank3 G A 15: 89,387,593 (GRCm39) R254Q probably damaging Het
Simc1 T C 13: 54,694,837 (GRCm39) V306A probably damaging Het
Srfbp1 A G 18: 52,621,853 (GRCm39) T305A probably benign Het
Tdrd5 A T 1: 156,105,005 (GRCm39) C463* probably null Het
Tmem132d A T 5: 128,346,336 (GRCm39) L62Q probably damaging Het
Trank1 T A 9: 111,220,784 (GRCm39) L2507H probably damaging Het
Usp45 T C 4: 21,830,451 (GRCm39) V702A probably damaging Het
Wnk2 A G 13: 49,256,308 (GRCm39) I271T probably damaging Het
Zfp292 A T 4: 34,805,125 (GRCm39) L2640I probably damaging Het
Znrf3 G T 11: 5,232,110 (GRCm39) H468N 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
R1370: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
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'- TGACAGACCCTTCCTGCATG -3'
(R):5'- TCACTGGCAAGTAGTGTATAATACCTG -3'

Sequencing Primer
(F):5'- TCCTGCATGCCTGGGTC -3'
(R):5'- GCAAGTAGTGTATAATACCTGTAAGC -3'
Posted On 2017-12-01