Incidental Mutation 'R1726:Reep6'
ID 198151
Institutional Source Beutler Lab
Gene Symbol Reep6
Ensembl Gene ENSMUSG00000035504
Gene Name receptor accessory protein 6
Synonyms Dp1l1
MMRRC Submission 039758-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R1726 (G1)
Quality Score 202
Status Validated
Chromosome 10
Chromosomal Location 80165831-80172275 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80170954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 277 (S277P)
Ref Sequence ENSEMBL: ENSMUSP00000100995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040081] [ENSMUST00000105354] [ENSMUST00000105355] [ENSMUST00000105357] [ENSMUST00000105358] [ENSMUST00000186864]
AlphaFold Q9JM62
Predicted Effect probably benign
Transcript: ENSMUST00000040081
AA Change: V120A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043722
Gene: ENSMUSG00000035504
AA Change: V120A

DomainStartEndE-ValueType
Pfam:TB2_DP1_HVA22 50 118 8e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105354
SMART Domains Protein: ENSMUSP00000100991
Gene: ENSMUSG00000035504

DomainStartEndE-ValueType
Pfam:TB2_DP1_HVA22 50 144 5e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105355
SMART Domains Protein: ENSMUSP00000100992
Gene: ENSMUSG00000035504

DomainStartEndE-ValueType
Pfam:TB2_DP1_HVA22 50 144 3.4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105357
AA Change: S250P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000100994
Gene: ENSMUSG00000035504
AA Change: S250P

DomainStartEndE-ValueType
low complexity region 22 61 N/A INTRINSIC
low complexity region 108 129 N/A INTRINSIC
low complexity region 297 319 N/A INTRINSIC
low complexity region 340 352 N/A INTRINSIC
low complexity region 411 428 N/A INTRINSIC
SCOP:d1gkub1 434 465 1e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105358
AA Change: S277P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000100995
Gene: ENSMUSG00000035504
AA Change: S277P

DomainStartEndE-ValueType
low complexity region 22 61 N/A INTRINSIC
low complexity region 108 129 N/A INTRINSIC
low complexity region 324 346 N/A INTRINSIC
low complexity region 367 379 N/A INTRINSIC
low complexity region 438 455 N/A INTRINSIC
SCOP:d1gkub1 461 492 8e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124789
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128845
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153167
Predicted Effect probably benign
Transcript: ENSMUST00000186864
SMART Domains Protein: ENSMUSP00000140840
Gene: ENSMUSG00000035504

DomainStartEndE-ValueType
Pfam:TB2_DP1_HVA22 50 144 5e-36 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.6%
Validation Efficiency 97% (63/65)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G C 12: 118,838,536 (GRCm39) probably null Het
Abcb5 A T 12: 118,871,267 (GRCm39) S711T possibly damaging Het
Acoxl G A 2: 127,722,366 (GRCm39) G216R probably damaging Het
Arhgef18 A T 8: 3,504,228 (GRCm39) N949I possibly damaging Het
Bltp3a C A 17: 28,105,225 (GRCm39) probably null Het
Brip1 A T 11: 85,955,740 (GRCm39) S924R probably benign Het
Btf3 C T 13: 98,452,804 (GRCm39) M1I probably null Het
Ccdc141 A G 2: 76,938,700 (GRCm39) probably benign Het
Ccdc80 A T 16: 44,916,368 (GRCm39) T375S probably benign Het
Ccl11 A G 11: 81,952,546 (GRCm39) K40E possibly damaging Het
Chrnb2 A T 3: 89,668,509 (GRCm39) C269S probably damaging Het
Dgat2 A G 7: 98,831,623 (GRCm39) S33P possibly damaging Het
Dip2c A G 13: 9,625,464 (GRCm39) D608G probably damaging Het
Dnah2 A T 11: 69,388,715 (GRCm39) D889E probably damaging Het
Dvl2 A T 11: 69,900,287 (GRCm39) T694S probably benign Het
Elapor1 A G 3: 108,375,184 (GRCm39) I561T possibly damaging Het
Fbf1 A G 11: 116,036,280 (GRCm39) V1100A probably benign Het
Galt G A 4: 41,756,001 (GRCm39) W22* probably null Het
Garem1 C A 18: 21,281,319 (GRCm39) V346L probably damaging Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gm10762 A T 2: 128,809,135 (GRCm39) probably benign Het
Gm21900 A G Y: 10,616,358 (GRCm39) probably null Het
Gm2663 T C 6: 40,974,960 (GRCm39) Y37C probably damaging Het
Gm42791 C A 5: 148,896,311 (GRCm39) probably benign Het
Gm5134 C A 10: 75,828,361 (GRCm39) P314T possibly damaging Het
Gtf3c2 T C 5: 31,326,467 (GRCm39) E348G possibly damaging Het
H2-T24 T A 17: 36,326,513 (GRCm39) M129L probably benign Het
Ikzf2 C A 1: 69,587,847 (GRCm39) R214L probably damaging Het
Insyn2a T C 7: 134,500,867 (GRCm39) probably benign Het
Itpr3 T A 17: 27,330,664 (GRCm39) L1691Q probably damaging Het
Kmt2c C T 5: 25,520,003 (GRCm39) G2036R probably damaging Het
Lrp10 T C 14: 54,707,113 (GRCm39) L650P probably damaging Het
Mcm9 G A 10: 53,413,977 (GRCm39) P368S possibly damaging Het
Mob3b A G 4: 34,954,028 (GRCm39) M214T probably benign Het
Mrpl1 T C 5: 96,371,686 (GRCm39) V71A probably benign Het
Mrpl57 A G 14: 58,064,092 (GRCm39) E40G probably damaging Het
Mtmr9 A G 14: 63,774,547 (GRCm39) V162A possibly damaging Het
Nalcn A T 14: 123,545,816 (GRCm39) V1065E probably damaging Het
Nemp2 A G 1: 52,676,554 (GRCm39) D42G probably damaging Het
Npepps A G 11: 97,115,495 (GRCm39) L623P probably damaging Het
Olig3 A G 10: 19,232,482 (GRCm39) S36G probably benign Het
Or10j5 A G 1: 172,784,658 (GRCm39) T99A probably benign Het
Or11g26 T A 14: 50,753,636 (GRCm39) probably null Het
Or5e1 T C 7: 108,354,215 (GRCm39) S51P probably benign Het
Pcdhb14 T A 18: 37,582,647 (GRCm39) Y584* probably null Het
Pcyox1l T C 18: 61,830,849 (GRCm39) Y341C probably benign Het
Pdxdc1 A C 16: 13,656,164 (GRCm39) probably null Het
Pias4 A C 10: 80,991,689 (GRCm39) V313G probably damaging Het
Pkd1 C T 17: 24,783,150 (GRCm39) T81M probably damaging Het
Ptprm T C 17: 67,349,322 (GRCm39) I40M probably damaging Het
Shank3 A G 15: 89,442,189 (GRCm39) E1694G probably damaging Het
Shq1 T C 6: 100,613,996 (GRCm39) Y274C probably benign Het
Slc12a6 T A 2: 112,177,771 (GRCm39) I630N probably damaging Het
Slc14a1 T A 18: 78,159,681 (GRCm39) N15Y probably benign Het
Slc17a4 A T 13: 24,089,574 (GRCm39) Y114* probably null Het
Slc26a1 C T 5: 108,821,541 (GRCm39) G116D probably damaging Het
Smg8 G T 11: 86,971,439 (GRCm39) Y777* probably null Het
Tlr11 A T 14: 50,598,998 (GRCm39) H328L probably benign Het
Ube2c G T 2: 164,613,237 (GRCm39) A52S probably damaging Het
Unc5c A G 3: 141,523,864 (GRCm39) S806G probably damaging Het
Zfp874b A T 13: 67,622,839 (GRCm39) I153K probably damaging Het
Zkscan2 T A 7: 123,089,046 (GRCm39) E408D probably damaging Het
Other mutations in Reep6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1102:Reep6 UTSW 10 80,171,080 (GRCm39) missense probably benign 0.02
R1711:Reep6 UTSW 10 80,169,815 (GRCm39) missense possibly damaging 0.94
R2054:Reep6 UTSW 10 80,166,156 (GRCm39) nonsense probably null
R3838:Reep6 UTSW 10 80,171,723 (GRCm39) missense probably damaging 0.96
R3883:Reep6 UTSW 10 80,171,369 (GRCm39) missense probably benign 0.05
R4080:Reep6 UTSW 10 80,165,996 (GRCm39) utr 5 prime probably benign
R4184:Reep6 UTSW 10 80,169,648 (GRCm39) missense probably damaging 1.00
R4966:Reep6 UTSW 10 80,169,633 (GRCm39) missense probably benign 0.01
R5087:Reep6 UTSW 10 80,171,009 (GRCm39) missense probably damaging 0.98
R7027:Reep6 UTSW 10 80,169,799 (GRCm39) critical splice acceptor site probably null
R7541:Reep6 UTSW 10 80,171,033 (GRCm39) missense possibly damaging 0.49
R7670:Reep6 UTSW 10 80,169,627 (GRCm39) missense probably damaging 1.00
R9416:Reep6 UTSW 10 80,166,091 (GRCm39) missense probably benign 0.01
R9694:Reep6 UTSW 10 80,169,393 (GRCm39) missense probably damaging 1.00
Z1177:Reep6 UTSW 10 80,169,968 (GRCm39) missense probably null 0.98
Predicted Primers PCR Primer
(F):5'- TCCCACGAGGAGCAAAATGTGCAG -3'
(R):5'- AATCTGGGAGCCGCTGGCAGAAAC -3'

Sequencing Primer
(F):5'- CAAAATGTGCAGGTGCTATGTTG -3'
(R):5'- TACAGATGCAGGGCCTGG -3'
Posted On 2014-05-23