Incidental Mutation 'R0066:Reck'
ID 18056
Institutional Source Beutler Lab
Gene Symbol Reck
Ensembl Gene ENSMUSG00000028476
Gene Name reversion-inducing-cysteine-rich protein with kazal motifs
Synonyms St15
MMRRC Submission 038357-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0066 (G1)
Quality Score
Status Validated
Chromosome 4
Chromosomal Location 43875530-43944806 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43930936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 646 (N646D)
Ref Sequence ENSEMBL: ENSMUSP00000030198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030198]
AlphaFold Q9Z0J1
Predicted Effect probably damaging
Transcript: ENSMUST00000030198
AA Change: N646D

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030198
Gene: ENSMUSG00000028476
AA Change: N646D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
KAZAL 632 671 1.18e-2 SMART
KAZAL 708 750 1.46e-2 SMART
KAZAL 753 787 4.26e-2 SMART
low complexity region 877 890 N/A INTRINSIC
low complexity region 927 946 N/A INTRINSIC
low complexity region 950 967 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128463
Meta Mutation Damage Score 0.2307 question?
Coding Region Coverage
  • 1x: 89.0%
  • 3x: 85.6%
  • 10x: 75.4%
  • 20x: 57.8%
Validation Efficiency 94% (112/119)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cysteine-rich, extracellular protein with protease inhibitor-like domains whose expression is suppressed strongly in many tumors and cells transformed by various kinds of oncogenes. In normal cells, this membrane-anchored glycoprotein may serve as a negative regulator for matrix metalloproteinase-9, a key enzyme involved in tumor invasion and metastasis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutation of this gene results in lethality around E10.5-E11.5, defects in collagen fibrils, basal lamina and vascular development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik A G 9: 22,119,177 (GRCm39) noncoding transcript Het
Aco2 T C 15: 81,787,666 (GRCm39) probably benign Het
Arsa T A 15: 89,358,539 (GRCm39) M288L possibly damaging Het
Atg2b A T 12: 105,614,708 (GRCm39) D1074E probably benign Het
Baiap2l1 A T 5: 144,221,372 (GRCm39) I174N probably damaging Het
Bptf A G 11: 106,952,962 (GRCm39) V199A possibly damaging Het
Btn2a2 T A 13: 23,662,655 (GRCm39) I432L probably benign Het
Ccdc150 A G 1: 54,395,850 (GRCm39) I778V probably benign Het
Cd200r2 G A 16: 44,730,037 (GRCm39) V194I possibly damaging Het
Cep350 A C 1: 155,786,964 (GRCm39) L1421R probably damaging Het
Col6a6 A T 9: 105,579,412 (GRCm39) C1938S probably damaging Het
Cspg4 A T 9: 56,795,418 (GRCm39) D1051V probably damaging Het
Cstf1 T A 2: 172,214,976 (GRCm39) N32K probably benign Het
Ctrb1 G A 8: 112,413,269 (GRCm39) R248* probably null Het
Cyp2d11 T A 15: 82,275,958 (GRCm39) M208L probably benign Het
Dbt A G 3: 116,337,478 (GRCm39) Q334R probably benign Het
Dcaf12 A G 4: 41,298,338 (GRCm39) V270A probably damaging Het
Dis3l T A 9: 64,226,447 (GRCm39) N361I probably benign Het
Dnm3 A G 1: 162,234,930 (GRCm39) V70A probably damaging Het
Dpy19l2 G A 9: 24,557,679 (GRCm39) probably benign Het
Dst C A 1: 34,228,634 (GRCm39) H2254N possibly damaging Het
Eif2b1 T G 5: 124,711,858 (GRCm39) probably null Het
Epm2aip1 A G 9: 111,101,531 (GRCm39) N168S probably benign Het
Fchsd2 A G 7: 100,927,631 (GRCm39) Y691C possibly damaging Het
Fndc8 A T 11: 82,788,398 (GRCm39) D76V probably benign Het
Frmd4a T C 2: 4,477,963 (GRCm39) L48P probably damaging Het
Gimap6 T A 6: 48,679,404 (GRCm39) I211F probably damaging Het
Gm15130 A G 2: 110,969,284 (GRCm39) probably benign Het
Gm19618 A T 6: 87,691,227 (GRCm39) Het
Gpatch1 G A 7: 34,986,652 (GRCm39) S768L probably damaging Het
Grb14 T G 2: 64,768,836 (GRCm39) probably null Het
Hnrnpd T C 5: 100,112,560 (GRCm39) E222G probably damaging Het
Ighv1-4 A G 12: 114,450,989 (GRCm39) S40P possibly damaging Het
Kcnh4 T C 11: 100,648,626 (GRCm39) H26R probably benign Het
Kctd2 T G 11: 115,320,343 (GRCm39) probably benign Het
Macf1 G A 4: 123,325,943 (GRCm39) Q3066* probably null Het
Mfn2 G A 4: 147,969,902 (GRCm39) probably benign Het
Mmab T C 5: 114,574,526 (GRCm39) probably benign Het
Mrc1 T C 2: 14,266,011 (GRCm39) S310P probably benign Het
Mrps21 T C 3: 95,770,197 (GRCm39) Y44C probably null Het
Myh10 T A 11: 68,590,317 (GRCm39) F121Y probably damaging Het
Myo1f A G 17: 33,820,677 (GRCm39) D840G probably damaging Het
Nol6 G T 4: 41,119,572 (GRCm39) probably benign Het
Ntsr2 T C 12: 16,704,120 (GRCm39) I207T probably benign Het
Nwd1 T A 8: 73,438,484 (GRCm39) S1552T probably benign Het
Or11j4 T A 14: 50,630,659 (GRCm39) F149I probably benign Het
Pkd1l3 G T 8: 110,347,103 (GRCm39) G159C unknown Het
Plcb4 T C 2: 135,803,689 (GRCm39) S521P probably benign Het
Plcl1 A T 1: 55,752,634 (GRCm39) I993F probably damaging Het
Plekha7 T C 7: 115,756,743 (GRCm39) S640G probably damaging Het
Ptprn2 A C 12: 117,240,222 (GRCm39) N993T probably benign Het
Rfx2 A T 17: 57,093,736 (GRCm39) probably benign Het
Ripk2 G A 4: 16,123,868 (GRCm39) Q436* probably null Het
Ryr1 C T 7: 28,704,992 (GRCm39) probably benign Het
Sema6b A G 17: 56,435,271 (GRCm39) V324A possibly damaging Het
Sik2 C A 9: 50,909,833 (GRCm39) M73I probably benign Het
Slc39a6 T C 18: 24,732,326 (GRCm39) K321E probably damaging Het
Slc7a4 C A 16: 17,391,875 (GRCm39) V520F probably benign Het
Sptan1 C A 2: 29,893,679 (GRCm39) probably benign Het
Stab1 C T 14: 30,879,027 (GRCm39) probably benign Het
Tbc1d17 C T 7: 44,493,495 (GRCm39) probably benign Het
Tbcd T A 11: 121,394,590 (GRCm39) L49* probably null Het
Tulp4 A T 17: 6,252,008 (GRCm39) N60I probably damaging Het
Ubqlnl A T 7: 103,798,145 (GRCm39) W451R probably damaging Het
Usp53 G T 3: 122,746,956 (GRCm39) C363* probably null Het
Utp4 A G 8: 107,649,530 (GRCm39) T660A possibly damaging Het
Vmn1r194 A T 13: 22,428,641 (GRCm39) Y86F probably benign Het
Vmn1r195 A T 13: 22,463,409 (GRCm39) H293L possibly damaging Het
Vmn1r231 T C 17: 21,109,998 (GRCm39) R306G probably benign Het
Vmn2r77 T C 7: 86,449,964 (GRCm39) V70A probably benign Het
Vps8 A G 16: 21,296,273 (GRCm39) E515G possibly damaging Het
Wdr18 C A 10: 79,796,937 (GRCm39) Y104* probably null Het
Xab2 A T 8: 3,663,880 (GRCm39) N346K probably damaging Het
Zdhhc12 C T 2: 29,982,547 (GRCm39) R50H probably damaging Het
Zdhhc8 A G 16: 18,043,064 (GRCm39) S379P probably benign Het
Other mutations in Reck
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Reck APN 4 43,940,662 (GRCm39) missense probably damaging 1.00
IGL01569:Reck APN 4 43,925,172 (GRCm39) missense probably benign 0.00
IGL02341:Reck APN 4 43,925,160 (GRCm39) missense probably damaging 0.97
IGL02637:Reck APN 4 43,898,009 (GRCm39) missense probably damaging 0.97
IGL02709:Reck APN 4 43,913,791 (GRCm39) missense probably damaging 0.99
IGL02829:Reck APN 4 43,891,014 (GRCm39) missense probably damaging 0.96
IGL02928:Reck APN 4 43,912,078 (GRCm39) missense possibly damaging 0.47
IGL03132:Reck APN 4 43,938,898 (GRCm39) nonsense probably null
PIT4453001:Reck UTSW 4 43,895,850 (GRCm39) missense probably benign 0.00
R0066:Reck UTSW 4 43,930,936 (GRCm39) missense probably damaging 0.97
R0607:Reck UTSW 4 43,940,719 (GRCm39) missense probably benign 0.01
R0626:Reck UTSW 4 43,930,295 (GRCm39) missense probably benign 0.00
R0894:Reck UTSW 4 43,922,967 (GRCm39) missense probably damaging 1.00
R0932:Reck UTSW 4 43,922,838 (GRCm39) missense possibly damaging 0.95
R1564:Reck UTSW 4 43,912,061 (GRCm39) missense probably benign 0.00
R1633:Reck UTSW 4 43,922,964 (GRCm39) missense possibly damaging 0.89
R1772:Reck UTSW 4 43,890,982 (GRCm39) missense probably benign 0.00
R1968:Reck UTSW 4 43,913,771 (GRCm39) splice site probably null
R2105:Reck UTSW 4 43,943,195 (GRCm39) missense probably damaging 0.99
R2225:Reck UTSW 4 43,922,837 (GRCm39) missense probably benign 0.01
R2302:Reck UTSW 4 43,931,015 (GRCm39) missense probably benign 0.28
R2430:Reck UTSW 4 43,930,202 (GRCm39) missense possibly damaging 0.88
R2655:Reck UTSW 4 43,938,966 (GRCm39) missense probably benign 0.01
R3858:Reck UTSW 4 43,930,261 (GRCm39) missense probably benign 0.13
R4027:Reck UTSW 4 43,922,931 (GRCm39) missense probably damaging 1.00
R4028:Reck UTSW 4 43,922,931 (GRCm39) missense probably damaging 1.00
R4029:Reck UTSW 4 43,922,931 (GRCm39) missense probably damaging 1.00
R4080:Reck UTSW 4 43,942,293 (GRCm39) missense possibly damaging 0.95
R4497:Reck UTSW 4 43,891,001 (GRCm39) missense probably benign
R4583:Reck UTSW 4 43,931,062 (GRCm39) critical splice donor site probably null
R4702:Reck UTSW 4 43,898,060 (GRCm39) missense probably damaging 1.00
R5934:Reck UTSW 4 43,930,979 (GRCm39) missense probably damaging 1.00
R6114:Reck UTSW 4 43,922,895 (GRCm39) missense probably damaging 1.00
R6235:Reck UTSW 4 43,937,450 (GRCm39) missense probably damaging 1.00
R7895:Reck UTSW 4 43,890,970 (GRCm39) missense probably benign 0.00
R7903:Reck UTSW 4 43,927,166 (GRCm39) missense possibly damaging 0.49
R8047:Reck UTSW 4 43,927,221 (GRCm39) missense probably damaging 1.00
R8477:Reck UTSW 4 43,891,011 (GRCm39) missense probably benign 0.00
R8853:Reck UTSW 4 43,912,089 (GRCm39) missense probably benign 0.15
R8912:Reck UTSW 4 43,938,802 (GRCm39) intron probably benign
R9084:Reck UTSW 4 43,922,809 (GRCm39) splice site probably benign
R9342:Reck UTSW 4 43,943,301 (GRCm39) missense probably benign 0.04
R9553:Reck UTSW 4 43,928,310 (GRCm39) missense probably damaging 1.00
X0062:Reck UTSW 4 43,922,921 (GRCm39) missense probably damaging 1.00
X0067:Reck UTSW 4 43,914,016 (GRCm39) missense probably damaging 1.00
Posted On 2013-03-25