Incidental Mutation 'R1564:Reck'
ID 175096
Institutional Source Beutler Lab
Gene Symbol Reck
Ensembl Gene ENSMUSG00000028476
Gene Name reversion-inducing-cysteine-rich protein with kazal motifs
Synonyms St15
MMRRC Submission 039603-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1564 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 43875530-43944806 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43912061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 190 (I190T)
Ref Sequence ENSEMBL: ENSMUSP00000030198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030198]
AlphaFold Q9Z0J1
Predicted Effect probably benign
Transcript: ENSMUST00000030198
AA Change: I190T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000030198
Gene: ENSMUSG00000028476
AA Change: I190T

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 91.0%
Validation Efficiency
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,384,316 (GRCm39) Q3923* probably null Het
Abcc12 T A 8: 87,244,115 (GRCm39) T1013S probably benign Het
Acad9 T C 3: 36,143,578 (GRCm39) I558T possibly damaging Het
Agbl4 C A 4: 110,812,761 (GRCm39) probably null Het
Akr1b1 C T 6: 34,283,470 (GRCm39) probably null Het
Aktip A G 8: 91,857,709 (GRCm39) M1T probably null Het
Apc G T 18: 34,448,202 (GRCm39) Q1665H probably benign Het
Arfgef3 T C 10: 18,467,452 (GRCm39) D1916G probably damaging Het
Arhgef11 T C 3: 87,609,817 (GRCm39) V365A probably benign Het
Bank1 C A 3: 135,919,602 (GRCm39) E265* probably null Het
Bbs7 A T 3: 36,629,944 (GRCm39) D578E probably damaging Het
Bin3 T C 14: 70,372,218 (GRCm39) F172L probably damaging Het
Bves A G 10: 45,245,377 (GRCm39) D350G probably benign Het
Cacna1h A T 17: 25,596,835 (GRCm39) C80* probably null Het
Cacna2d4 T C 6: 119,218,156 (GRCm39) F164L possibly damaging Het
Cenpj T C 14: 56,789,523 (GRCm39) D842G probably benign Het
Col12a1 C A 9: 79,521,122 (GRCm39) R2781L probably damaging Het
Cyp2c68 A T 19: 39,724,024 (GRCm39) C213* probably null Het
Defb33 T A 8: 21,387,597 (GRCm39) C45S possibly damaging Het
Dolk A T 2: 30,175,633 (GRCm39) N137K probably damaging Het
Fam171b G A 2: 83,710,628 (GRCm39) E767K probably damaging Het
Fbxl20 A T 11: 97,989,312 (GRCm39) D189E probably damaging Het
Gm10643 A T 8: 84,791,111 (GRCm39) M1K probably null Het
Gm572 T G 4: 148,735,643 (GRCm39) I24S possibly damaging Het
Gnpda1 A G 18: 38,471,142 (GRCm39) probably null Het
Gpr141b T C 13: 19,913,470 (GRCm39) noncoding transcript Het
Helz2 G T 2: 180,875,021 (GRCm39) N1824K probably benign Het
Insl3 G T 8: 72,142,935 (GRCm39) A99S possibly damaging Het
Lpin2 G A 17: 71,532,055 (GRCm39) V137I probably benign Het
Lrrc9 A G 12: 72,533,827 (GRCm39) E1032G probably damaging Het
Macf1 T C 4: 123,353,150 (GRCm39) T1510A probably benign Het
Mnd1 T C 3: 84,023,738 (GRCm39) E116G probably benign Het
Mycbp2 A G 14: 103,407,287 (GRCm39) probably null Het
Myoz3 G A 18: 60,713,914 (GRCm39) S23L probably benign Het
Napsa G T 7: 44,236,073 (GRCm39) V371F probably damaging Het
Nefh T C 11: 4,889,878 (GRCm39) T914A unknown Het
Neurod2 A T 11: 98,218,250 (GRCm39) C305S probably damaging Het
Nmnat3 T C 9: 98,236,219 (GRCm39) probably null Het
Nuf2 A G 1: 169,326,362 (GRCm39) V463A unknown Het
Olfml1 A T 7: 107,170,346 (GRCm39) T78S possibly damaging Het
Opcml G A 9: 28,814,612 (GRCm39) C288Y probably damaging Het
Oprl1 T C 2: 181,360,733 (GRCm39) I222T possibly damaging Het
Or13a28 G A 7: 140,217,967 (GRCm39) V118I probably benign Het
Or4c104 A T 2: 88,587,000 (GRCm39) N6K possibly damaging Het
Or4c122 G T 2: 89,080,016 (GRCm39) N7K probably benign Het
Or6c210 T C 10: 129,495,884 (GRCm39) F70L probably benign Het
Pcsk5 A G 19: 17,632,120 (GRCm39) Y349H probably damaging Het
Pla2g4d C A 2: 120,099,384 (GRCm39) R706L possibly damaging Het
Pmm1 A G 15: 81,840,401 (GRCm39) Y55H probably damaging Het
Polb A G 8: 23,120,357 (GRCm39) probably null Het
Pom121l2 T C 13: 22,167,523 (GRCm39) I598T possibly damaging Het
Pxmp2 C T 5: 110,429,062 (GRCm39) probably null Het
Rbm39 G T 2: 155,996,177 (GRCm39) L403I probably benign Het
Rec8 T C 14: 55,859,732 (GRCm39) probably null Het
Rer1 A T 4: 155,160,050 (GRCm39) I166N probably damaging Het
Rgs17 T A 10: 5,792,567 (GRCm39) K60* probably null Het
Ripor2 C T 13: 24,859,768 (GRCm39) T152M probably damaging Het
Scgb1b2 A T 7: 30,991,200 (GRCm39) probably benign Het
Scn3a C A 2: 65,344,979 (GRCm39) R503M probably damaging Het
Scn4a C A 11: 106,236,367 (GRCm39) D298Y probably benign Het
Scn9a A G 2: 66,314,648 (GRCm39) F1679S probably damaging Het
Scyl3 G T 1: 163,767,553 (GRCm39) probably null Het
Sec23ip A G 7: 128,368,005 (GRCm39) probably null Het
She C T 3: 89,756,921 (GRCm39) A325V possibly damaging Het
Skint2 T G 4: 112,483,195 (GRCm39) M200R probably damaging Het
Slc17a5 A T 9: 78,485,981 (GRCm39) C35S probably damaging Het
Slc25a24 T A 3: 109,070,819 (GRCm39) S393T probably damaging Het
Slc6a19 C T 13: 73,834,243 (GRCm39) V320M probably damaging Het
Snap91 T C 9: 86,674,249 (GRCm39) D579G possibly damaging Het
Spats2l C T 1: 57,985,383 (GRCm39) R479C probably damaging Het
Syngr3 G C 17: 24,905,642 (GRCm39) probably null Het
Tas2r107 A C 6: 131,636,785 (GRCm39) I88R probably damaging Het
Them7 A T 2: 105,128,259 (GRCm39) N80I probably damaging Het
Tmprss7 C T 16: 45,482,516 (GRCm39) probably null Het
Tnrc6b A G 15: 80,764,369 (GRCm39) N624D possibly damaging Het
Trpm2 T G 10: 77,778,833 (GRCm39) I378L probably benign Het
Ttn C A 2: 76,554,876 (GRCm39) W30676L probably damaging Het
Ttn A G 2: 76,774,384 (GRCm39) V2220A unknown Het
Uba6 T C 5: 86,302,266 (GRCm39) T134A probably benign Het
Vmn2r55 A G 7: 12,418,678 (GRCm39) S81P probably damaging Het
Zfp616 T A 11: 73,975,548 (GRCm39) S606T probably damaging Het
Zfp653 C A 9: 21,967,155 (GRCm39) A577S probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- AAAGCTATTTGCATTTCAGTGTCGCC -3'
(R):5'- GCTCCCGCATTACAGAAATCTACAGTG -3'

Sequencing Primer
(F):5'- CTCTCTCTCCACAGTGGGC -3'
(R):5'- AGTAGAACCCAGACTATGCTTTC -3'
Posted On 2014-04-24